R3188W last accessed: 2022-11-04

metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

omim
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

Other names: OMIM, omim

Online Mendelian Inheritance in Man. It is an authoritative compendium of human genes and phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype

Webpage:

https://www.omim.org

Licence:

Name: OMIM - specific. Non permissive for commercial purposes
URL: https://www.omim.org/help/agreement

Publications:

Publications
More detailed information about this field from each metasource.

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
PMID: 15608251
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
PMID: 25428349
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

McKusick's Online Mendelian Inheritance in Man (OMIM)
PMID: 18842627
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

OMIM.org: leveraging knowledge across phenotype-gene relationships
PMID: 30445645
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders PubMed citations: 1141.

1141 articles citing: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

PO2RDF: representation of real-world data for precision oncology using resource description framework. PMID:35907849
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family. PMID:35905044
Exploring Quercetin Anti-Osteoporosis Pharmacological Mechanisms with In Silico and In Vivo Models. PMID:35888070
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core. PMID:35885962
Network Pharmacology-Based Prediction and Pharmacological Validation of Effects of Astragali Radix on Acetaminophen-Induced Liver Injury. PMID:35860733
Metformin and Gegen Qinlian Decoction boost islet α-cell proliferation of the STZ induced diabetic rats. PMID:35858880
Molecular characterization of triple-negative myeloproliferative neoplasms by next-generation sequencing. PMID:35840818
Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph. PMID:35830458
Multiple Mechanisms of Shenqi Pill in Treating Nonalcoholic Fatty Liver Disease Based on Network Pharmacology and Molecular Docking. PMID:35795275
Large-Scale Validation of Hypothesis Generation Systems via Candidate Ranking. PMID:35789222
Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment. PMID:35765363
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. PMID:35760791
From drug repositioning to target repositioning: prediction of therapeutic targets using genetically perturbed transcriptomic signatures. PMID:35758779
PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine. PMID:35743744
Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View. PMID:35741843
Open problems in human trait genetics. PMID:35725481
Bioinformatics and System Biology Approach to Reveal the Interaction Network and the Therapeutic Implications for Non-Small Cell Lung Cancer Patients With COVID-19. PMID:35721149
Computational drug repurposing based on electronic health records: a scoping review. PMID:35701544
Network pharmacology and in vivo experiments reveal the pharmacological effects and molecular mechanisms of Simiao Powder in prevention and treatment for gout. PMID:35672755
The Neuroprotective Effect of Shenmai Injection on Oxidative Stress Injury in PC12 Cells Based on Network Pharmacology. PMID:35668778
BETA: a comprehensive benchmark for computational drug-target prediction. PMID:35649342
A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing. PMID:35627305
Loricrin at the Boundary between Inside and Outside. PMID:35625601
Mechanistic analysis of erectile dysfunction in a depression rat model. PMID:35615771
Connecting DCX, COMT and FMR1 in social behavior and cognitive impairment. PMID:35590332
Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis. PMID:35573728
An Herbal Product Alleviates Bleomycin-Induced Pulmonary Fibrosis in Mice via Regulating NF-κB/TNF-α Signaling in Macrophages. PMID:35548340
Prioritization of risk genes in multiple sclerosis by a refined Bayesian framework followed by tissue-specificity and cell type feature assessment. PMID:35545758
Artificial intelligence in cancer target identification and drug discovery. PMID:35538061
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure. PMID:35524567
Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility. PMID:35523146
Non-conventional Genetic Basis of Congenital Adrenal Hypoplasia in South Asia. PMID:35495001
Mechanism of Jujube (Ziziphus jujuba Mill.) Fruit in the Appetite Regulation Based on Network Pharmacology and Molecular Docking Method. PMID:35480085
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. PMID:35440622
A Study on Methodologies of Drug Repositioning Using Biomedical Big Data: A Focus on Diabetes Mellitus. PMID:35413782
An overview of SNP-SNP microhaplotypes in the 26 populations of the 1000 Genomes Project. PMID:35397682
Explore potential disease related metabolites based on latent factor model. PMID:35387615
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. PMID:35350997
Network Crosstalk as a Basis for Drug Repurposing. PMID:35350247
Cell cycle arrest is an important mechanism of action of compound Kushen injection in the prevention of colorectal cancer. PMID:35288618
DBHR: a collection of databases relevant to human research. PMID:35251694
Network Pharmacology Study to Reveal the Potentiality of a Methanol Extract of Caesalpinia sappan L. Wood against Type-2 Diabetes Mellitus. PMID:35207564
Synthesis and Antitumor Evaluation of Menthone-Derived Pyrimidine-Urea Compounds as Potential PI3K/Akt/mTOR Signaling Pathway Inhibitor. PMID:35186896
An Alu insertion map of the Indian population: identification and analysis in 1021 genomes of the IndiGen project. PMID:35178516
CRISPR Therapeutics for Duchenne Muscular Dystrophy. PMID:35163754
DDIT: An Online Predictor for Multiple Clinical Phenotypic Drug-Disease Associations. PMID:35126114
Evaluating semantic similarity methods for comparison of text-derived phenotype profiles. PMID:35123470
DDA-SKF: Predicting Drug-Disease Associations Using Similarity Kernel Fusion. PMID:35095495
Variant interpretation: UCSC Genome Browser Recommended Track Sets. PMID:35088925
Elucidation of Potential Targets of San-Miao-San in the Treatment of Osteoarthritis Based on Network Pharmacology and Molecular Docking Analysis. PMID:35087596
The Epidermis: Redox Governor of Health and Diseases. PMID:35052551
Identification of putative genetic variants in major depressive disorder patients in Pakistan. PMID:35040003
Exploring the Mechanism of Edaravone for Oxidative Stress in Rats with Cerebral Infarction Based on Quantitative Proteomics Technology. PMID:35027937
Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups. PMID:34976016
Network pharmacology-based strategy to investigate the active ingredients and molecular mechanisms of Scutellaria Barbata D. Don against radiation pneumonitis. PMID:34964782
Mechanism of Elian granules in the treatment of precancerous lesions of gastric cancer in rats through the MAPK signalling pathway based on network pharmacology. PMID:34962453
An integrated brain-specific network identifies genes associated with neuropathologic and clinical traits of Alzheimer's disease. PMID:34953465
Emerging Molecular Dependencies of Mutant EGFR-Driven Non-Small Cell Lung Cancer. PMID:34944063
Exploring the Potential Targets and Mechanisms of Huang Lian Jie Du Decoction in the Treatment of Coronavirus Disease 2019 Based on Network Pharmacology. PMID:34938107
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease. PMID:34906245
Using Gene Ontology to Annotate and Prioritize Microarray Data. PMID:34902135
The effect and mechanism of Jiao-tai-wan in the treatment of diabetes mellitus with depression based on network pharmacology and experimental analysis. PMID:34875999
A Network-Based Drug Repurposing Method Via Non-Negative Matrix Factorization. PMID:34875000
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report. PMID:34863162
Gene biomarker prediction in glioma by integrating scRNA-seq data and gene regulatory network. PMID:34863158
Variant interpretation using population databases: Lessons from gnomAD. PMID:34859531
Identification of the Active Constituents and Significant Pathways of Shen-qi-Yi-zhu Decoction on Antigastric Cancer: A Network Pharmacology Research and Experimental Validation. PMID:34853601
Analysis of Differentially Expressed Genes That Aggravate Metabolic Diseases in Depression. PMID:34833079
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. PMID:34816580
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus. PMID:34791504
Cell type identification from single-cell transcriptomes in melanoma. PMID:34784909
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. PMID:34780871
Exploring the Effect of Jiawei Buguzhi Pills on TGF-β-Smad Pathway in Postmenopausal Osteoporosis Based on Integrated Pharmacological Strategy. PMID:34754316
CYP11B1 variants influence skeletal maturation via alternative splicing. PMID:34754074
Exploration of the anti-insomnia mechanism of Ganoderma by central-peripheral multi-level interaction network analysis. PMID:34715778
Selection on ancestral genetic variation fuels repeated ecotype formation in bottlenose dolphins. PMID:34705499
Gut-microbiota-microglia-brain interactions in Alzheimer's disease: knowledge-based, multi-dimensional characterization. PMID:34670619
Network Pharmacology-Based and Molecular Docking-Based Analysis of Suanzaoren Decoction for the Treatment of Parkinson's Disease with Sleep Disorder. PMID:34660782
Systems Biology and Chemoinformatics-Based Strategies to Explore the Biological Mechanism of Fugui Wenyang Decoction in Treating Vascular Dementia Rats. PMID:34659639
Identifying disease-gene associations using a convolutional neural network-based model by embedding a biological knowledge graph with entity descriptions. PMID:34653225
Exploring the Mechanism of Resveratrol in Reducing the Soft Tissue Damage of Osteoarthritis Based on Network Pharmacology and Experimental Pharmacology. PMID:34646331
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family. PMID:34641644
Mechanism of Paeoniae Radix Alba in the Treatment of Non-alcoholic Fatty Liver Disease Based on Sequential Metabolites Identification Approach, Network Pharmacology, and Binding Affinity Measurement. PMID:34604271
Multi-faceted semantic clustering with text-derived phenotypes. PMID:34600327
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability. PMID:34584144
Genetic variants associated with platelet count are predictive of human disease and physiological markers. PMID:34580418
Mechanism of Radix Rhei Et Rhizome Intervention in Cerebral Infarction: A Research Based on Chemoinformatics and Systematic Pharmacology. PMID:34531920
Exploring the mechanism of Danggui Buxue Decoction in regulating atherosclerotic disease network based on integrated pharmacological methods. PMID:34528665
Distinct genetic landscape and a low response to doxorubicin in a luminal-A breast cancer cell line of Pakistani origin. PMID:34495459
Identifying Breast Cancer-Related Genes Based on a Novel Computational Framework Involving KEGG Pathways and PPI Network Modularity. PMID:34484285
Prospects and challenges of cancer systems medicine: from genes to disease networks. PMID:34471925
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS. PMID:34465180
Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review. PMID:34445667
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. PMID:34442375
Identification of Targeted Proteins by Jamu Formulas for Different Efficacies Using Machine Learning Approach. PMID:34440610
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. PMID:34428295
Exploring the Pharmacological Mechanism of Liuwei Dihuang Decoction for Diabetic Retinopathy: A Systematic Biological Strategy-Based Research. PMID:34394383
Feasibility and Mechanism Analysis of Shenfu Injection in the Treatment of Idiopathic Pulmonary Fibrosis. PMID:34393772
Identification and Quantification of Glutathionylated Cysteines under Ischemic Stress. PMID:34382403
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. PMID:34373650
Machine learning approaches for drug combination therapies. PMID:34368832
Exploiting genomic synteny in Felidae: cross-species genome alignments and SNV discovery can aid conservation management. PMID:34362297
A Network Pharmacology Approach to Investigate the Mechanism of Erjing Prescription in Type 2 Diabetes. PMID:34349832
Decoding 'Unnecessary Complexity': A Law of Complexity and a Concept of Hidden Variation Behind "Missing Heritability" in Precision Medicine. PMID:34341835
Exploring the Regulatory Mechanism of Modified Huanglian Maidong Decoction on Type 2 Diabetes Mellitus Biological Network Based on Systematic Pharmacology. PMID:34335798
Prediction of Disease Genes Based on Stage-Specific Gene Regulatory Networks in Breast Cancer. PMID:34335705
Retinoblastoma genetics screening and clinical management. PMID:34294096
Disease gene prediction with privileged information and heteroscedastic dropout. PMID:34252957
Exploring the Regulatory Mechanism of Hedysarum Multijugum Maxim.-Chuanxiong Rhizoma Compound on HIF-VEGF Pathway and Cerebral Ischemia-Reperfusion Injury's Biological Network Based on Systematic Pharmacology. PMID:34248611
Angelica Dahurica Regulated the Polarization of Macrophages and Accelerated Wound Healing in Diabetes: A Network Pharmacology Study and In Vivo Experimental Validation. PMID:34234674
Exploring the Mechanism of Berberine Intervention in Ulcerative Colitis from the Perspective of Inflammation and Immunity Based on Systemic Pharmacology. PMID:34211579
Towards a global investigation of transcriptomic signatures through co-expression networks and pathway knowledge for the identification of disease mechanisms. PMID:34197603
The structure-based cancer-related single amino acid variation prediction. PMID:34193921
Predicting circRNA-Disease Associations Based on Deep Matrix Factorization with Multi-source Fusion. PMID:34185304
Viewing Victor McKusick's legacy through the lens of his bibliography. PMID:34159717
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. PMID:34145886
Network module-based drug repositioning for pulmonary arterial hypertension. PMID:34132494
DGLinker: flexible knowledge-graph prediction of disease-gene associations. PMID:34125897
Genomic insights into body size evolution in Carnivora support Peto's paradox. PMID:34107880
Systematic Pharmacology Reveals the Antioxidative Stress and Anti-Inflammatory Mechanisms of Resveratrol Intervention in Myocardial Ischemia-Reperfusion Injury. PMID:34093716
2-kupl: mapping-free variant detection from DNA-seq data of matched samples. PMID:34090332
In silico drug repositioning using deep learning and comprehensive similarity measures. PMID:34074242
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks. PMID:34046427
Integrated Strategy of Network Pharmacological Prediction and Experimental Validation Elucidate Possible Mechanism of Bu-Yang Herbs in Treating Postmenopausal Osteoporosis via ESR1. PMID:34045964
Exploring the Mechanism of Zhibai Dihuang Decoction in the Treatment of Ureaplasma Urealyticum-Induced Orchitis Based on Integrated Pharmacology. PMID:34040514
A Study to Decipher the Potential Effects of Butylphthalide against Central Nervous System Diseases Based on Network Pharmacology and Molecular Docking Integration Strategy. PMID:34035826
Integrated Pharmacological Analysis on the Mechanism of Fuyou Formula in Treating Precocious Puberty. PMID:34025416
The Performance Comparison of Gene Co-expression Networks of Breast and Prostate Cancer using Different Selection Criteria. PMID:34003445
Network Pharmacology-Based Investigation of the Therapeutic Mechanisms of Action of Danning Tablets in Nonalcoholic Fatty Liver Disease. PMID:33995543
Functional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions. PMID:33988505
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PMID:33983923
Genetic and epigenetic features of promoters with ubiquitous chromatin accessibility support ubiquitous transcription of cell-essential genes. PMID:33978759
Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae). PMID:33976821
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
CBP-JMF: An Improved Joint Matrix Tri-Factorization Method for Characterizing Complex Biological Processes of Diseases. PMID:33968140
The peripheral and core regions of virus-host network of COVID-19. PMID:33956950
Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis. PMID:33907838
Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach. PMID:33889172
Integrated Systems Pharmacology and Surface Plasmon Resonance Approaches to Reveal the Synergistic Effect of Multiple Components of Gu-Ben-Ke-Chuan Decoction on Chronic Bronchitis. PMID:33883922
Network Pharmacology Analysis of ZiShenWan for Diabetic Nephropathy and Experimental Verification of Its Anti-Inflammatory Mechanism. PMID:33883881
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. PMID:33859359
The impact of identity by descent on fitness and disease in dogs. PMID:33853941
Molecular genetics of inherited retinal degenerations in Icelandic patients. PMID:33851411
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders. PMID:33849535
Towards similarity-based differential diagnostics for common diseases. PMID:33836447
A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome. PMID:33833373
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. PMID:33798442
A Network Pharmacology to Explore the Mechanism of Calculus Bovis in the Treatment of Ischemic Stroke. PMID:33778069
Study on the Mechanism of Jiawei Shengjiang Powder in Improving Male Asthma-Induced Asthenospermia Based on Network Pharmacology and Bioinformatics. PMID:33776422
Comorbidities associated with genetic abnormalities in children with intellectual disability. PMID:33753861
Exploring the Oxidative Stress Mechanism of Buyang Huanwu Decoction in Intervention of Vascular Dementia Based on Systems Biology Strategy. PMID:33747352
Systematic elucidation of the mechanism of Jingyin granule in the treatment of Novel Coronavirus (COVID-19) Pneumonia via Network Pharmacology. PMID:33746581
Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. PMID:33731941
Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks. PMID:33709075
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. PMID:33680884
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. PMID:33677721
Expanding the drug discovery space with predicted metabolite-target interactions. PMID:33674782
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. PMID:33664247
An Integrative Pharmacology-Based Pattern to Uncover the Pharmacological Mechanism of Ginsenoside H Dripping Pills in the Treatment of Depression. PMID:33658934
The important herbal pair for the treatment of COVID-19 and its possible mechanisms. PMID:33658066
Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia. PMID:33643553
Using Machine Learning to Collect and Facilitate Remote Access to Biomedical Databases: Development of the Biomedical Database Inventory. PMID:33629960
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
Identification of hub genes associated with adult acute myeloid leukemia progression through weighted gene co-expression network analysis. PMID:33592582
Omics Playground: a comprehensive self-service platform for visualization, analytics and exploration of Big Omics Data. PMID:33575569
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Predicting therapeutic drugs for hepatocellular carcinoma based on tissue-specific pathways. PMID:33561121
Exploring the Active Components of Simotang Oral Liquid and Their Potential Mechanism of Action on Gastrointestinal Disorders by Integrating Ultrahigh-Pressure Liquid Chromatography Coupled with Linear Ion Trap-Orbitrap Analysis and Network Pharmacology. PMID:33521474
A Deep Learning-Based Approach for Identifying the Medicinal Uses of Plant-Derived Natural Compounds. PMID:33519445
Genetic Association Studies of Age-Related Traits: New Perspectives. PMID:33511377
Predicting lincRNA-Disease Association in Heterogeneous Networks Using Co-regularized Non-negative Matrix Factorization. PMID:33510774
Exploring the mechanism of aidi injection for lung cancer by network pharmacology approach and molecular docking validation. PMID:33506873
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. PMID:33499903
A network pharmacology perspective for deciphering potential mechanisms of action of Solanum nigrum L. in bladder cancer. PMID:33494738
SNF-NN: computational method to predict drug-disease interactions using similarity network fusion and neural networks. PMID:33482713
An empirical meta-analysis of the life sciences linked open data on the web. PMID:33479214
Decompression of Multimorbidity Along the Disease Trajectories of Diabetes Mellitus Patients. PMID:33469431
DALIA- a comprehensive resource of Disease Alleles in Arab population. PMID:33439861
Lingzhi and San-Miao-San with hyaluronic acid gel mitigate cartilage degeneration in anterior cruciate ligament transection induced osteoarthritis. PMID:33437632
A review of computational drug repositioning: strategies, approaches, opportunities, challenges, and directions. PMID:33431024
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome. PMID:33417599
Systematical Identification of the Protective Effect of Danhong Injection and BuChang NaoXinTong Capsules on Transcription Factors in Cerebral Ischemia Mice Brain. PMID:33414894
Family history assessment significantly enhances delivery of precision medicine in the genomics era. PMID:33413596
Radix Rehmanniae and Corni Fructus against Diabetic Nephropathy via AGE-RAGE Signaling Pathway. PMID:33344651
Network pharmacology-based strategy for predicting therapy targets of Tripterygium wilfordii on acute myeloid leukemia. PMID:33327305
Study on Network Pharmacological Analysis and Preliminary Validation to Understand the Mechanisms of Plantaginis Semen in Treatment of Gouty Nephropathy. PMID:33312224
PathExt: a general framework for path-based mining of omics-integrated biological networks. PMID:33305329
Hybrid attentional memory network for computational drug repositioning. PMID:33297947
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
Research on the Potential Mechanism of Gentiopicroside Against Gastric Cancer Based on Network Pharmacology. PMID:33262572
Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives. PMID:33240932
Exploring the Mechanism of Icariin in Osteoporosis Based on a Network Pharmacology Strategy. PMID:33230092
DEEPScreen: high performance drug-target interaction prediction with convolutional neural networks using 2-D structural compound representations. PMID:33209251
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier. PMID:33206638
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants. PMID:33199988
Integrated network pharmacology and molecular docking approaches to reveal the synergistic mechanism of multiple components in Venenum Bufonis for ameliorating heart failure. PMID:33194384
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD). PMID:33183351
A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19. PMID:33156843
Potential Molecular Mechanisms of Plantain in the Treatment of Gout and Hyperuricemia Based on Network Pharmacology. PMID:33149752
Integrating systematic biological and proteomics strategies to explore the pharmacological mechanism of danshen yin modified on atherosclerosis. PMID:33140562
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
Network Pharmacology-Based Strategy Reveals the Effects of Hedysarum multijugum Maxim.-Radix Salviae Compound on Oxidative Capacity and Cardiomyocyte Apoptosis in Rats with Diabetic Cardiomyopathy. PMID:33134388
An Integrative Serum Pharmacology-Based Approach to Study the Anti-Tumor Activity of B. paniculatum Aqueous Bulb Extract on the Human Hepatocellular Carcinoma Cell Line BEL-7404. PMID:33123002
The MemMoRF database for recognizing disordered protein regions interacting with cellular membranes. PMID:33119751
Preclinical validation of therapeutic targets predicted by tensor factorization on heterogeneous graphs. PMID:33106501
Allelic distribution of ABO gene in Chinese centenarians. PMID:33103040
Monogenic variants in dystonia: an exome-wide sequencing study. PMID:33098801
The Effect of Hedysarum multijugum Maxim.-Chuanxiong rhizoma Compound on Ischemic Stroke: A Research Based on Network and Experimental Pharmacology. PMID:33082911
Potential Molecular Mechanisms of Chaihu-Shugan-San in Treatment of Breast Cancer Based on Network Pharmacology. PMID:33062007
Mapping scientific landscapes in UMLS research: a scientometric review. PMID:33059367
RepCOOL: computational drug repositioning via integrating heterogeneous biological networks. PMID:33008415
C3: connect separate connected components to form a succinct disease module. PMID:33008305
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study. PMID:33006565
Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. PMID:33001999
STAB: a spatio-temporal cell atlas of the human brain. PMID:32976581
The 2019 National Natural language processing (NLP) Clinical Challenges (n2c2)/Open Health NLP (OHNLP) shared task on clinical concept normalization for clinical records. PMID:32968800
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis. PMID:32961042
A network pharmacology study on analgesic mechanism of Yuanhu-Baizhi herb pair. PMID:32948176
NEDD: a network embedding based method for predicting drug-disease associations. PMID:32938396
ANDDigest: a new web-based module of ANDSystem for the search of knowledge in the scientific literature. PMID:32921303
The Active Compounds and Therapeutic Mechanisms of Pentaherbs Formula for Oral and Topical Treatment of Atopic Dermatitis Based on Network Pharmacology. PMID:32916837
Literature-Wide Association Studies (LWAS) for a Rare Disease: Drug Repurposing for Inflammatory Breast Cancer. PMID:32872166
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. PMID:32843488
Exploring the mechanism of Radix Rhei Et Rhizome intervention in intracerebral hemorrhage based on systematic pharmacology and proteomics strategy. PMID:32803256
Identification of Undetected Monogenic Cardiovascular Disorders. PMID:32792077
Exploring protective effect of Glycine tabacina aqueous extract against nephrotic syndrome by network pharmacology and experimental verification. PMID:32765640
Exploring Drug Treatment Patterns Based on the Action of Drug and Multilayer Network Model. PMID:32708644
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. PMID:32707033
Genetic Inheritance and Its Contribution to Tinnitus. PMID:32705497
MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature. PMID:32703994
A Network Medicine Approach to Investigation and Population-based Validation of Disease Manifestations and Drug Repurposing for COVID-19. PMID:32676577
PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. PMID:32665031
Combining phenome-driven drug-target interaction prediction with patients' electronic health records-based clinical corroboration toward drug discovery. PMID:32657406
Toward heterogeneous information fusion: bipartite graph convolutional networks for in silico drug repurposing. PMID:32657387
Network-principled deep generative models for designing drug combinations as graph sets. PMID:32657357
Hepatoprotective effects of Hovenia dulcis seeds against alcoholic liver injury and related mechanisms investigated via network pharmacology. PMID:32655267
Protective Mechanisms Against DNA Replication Stress in the Nervous System. PMID:32630049
Deciphering the underlying mechanism of Xianlinggubao capsule against osteoporosis by network pharmacology. PMID:32620113
The transcriptional signature associated with human motile cilia. PMID:32616903
A Comprehensive Network Pharmacology-Based Strategy to Investigate Multiple Mechanisms of HeChan Tablet on Lung Cancer. PMID:32595734
Building a PubMed knowledge graph. PMID:32591513
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. PMID:32588908
A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis. PMID:32575372
Mechanism of YuPingFeng in the Treatment of COPD Based on Network Pharmacology. PMID:32566658
Deep belief network-Based Matrix Factorization Model for MicroRNA-Disease Associations Prediction. PMID:32523330
Network pharmacology to dissect the mechanisms of Yinlai Decoction for pneumonia. PMID:32493296
Polygenic risk scores: pleiotropy and the effect of environment. PMID:32488673
Evaluating drug targets through human loss-of-function genetic variation. PMID:32461653
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. PMID:32461613
An Integrative Pharmacology-Based Analysis of Refined Qingkailing Injection Against Cerebral Ischemic Stroke: A Novel Combination of Baicalin, Geniposide, Cholic Acid, and Hyodeoxycholic Acid. PMID:32457601
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
Exploring the mechanism of Shengmai Yin for coronary heart disease based on systematic pharmacology and chemoinformatics. PMID:32436944
Si-Wei-Qing-Gan-Tang Improves Non-Alcoholic Steatohepatitis by Modulating the Nuclear Factor-κB Signal Pathway and Autophagy in Methionine and Choline Deficient Diet-Fed Rats. PMID:32425782
Investigating Human Mitochondrial Genomes in Single Cells. PMID:32403285
Why data citation isn't working, and what to do about it. PMID:32367113
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. PMID:32355288
Potential Molecular Mechanisms of Zhibai Dihuang Wan in Systemic Lupus Erythematosus Based on Network Biology. PMID:32351603
Diagnosis support systems for rare diseases: a scoping review. PMID:32299466
Integrated querying and version control of context-specific biological networks. PMID:32294194
Systems Pharmacology-Based Strategy to Investigate Pharmacological Mechanisms of Radix Puerariae for Treatment of Hypertension. PMID:32265716
Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism. PMID:32259488
Essential gene prediction in Drosophila melanogaster using machine learning approaches based on sequence and functional features. PMID:32257045
An Integrated Pharmacology-Based Analysis for Antidepressant Mechanism of Chinese Herbal Formula Xiao-Yao-San. PMID:32256358
MaveQuest: a web resource for planning experimental tests of human variant effects. PMID:32251504
Automated gene data integration with Databio. PMID:32238171
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era. PMID:32231685
Regulation of pluripotency and reprogramming by RNA binding proteins. PMID:32220295
Association of G6PD variants with hemoglobin A1c and impact on diabetes diagnosis in East Asian individuals. PMID:32209585
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene. PMID:32195206
Deciphering the Active Compounds and Mechanisms of Qixuehe Capsule on Qi Stagnation and Blood Stasis Syndrome: A Network Pharmacology Study. PMID:32190085
Selected neuropeptide genes show genetic differentiation between Africans and non-Africans. PMID:32171244
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
Predict New Therapeutic Drugs for Hepatocellular Carcinoma Based on Gene Mutation and Expression. PMID:32047745
Use of a Systematic Pharmacological Methodology to Explore the Mechanism of Shengmai Powder in Treating Diabetic Cardiomyopathy. PMID:32023237
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. PMID:32000841
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. PMID:31980526
In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract. PMID:31935276
Combining lexical and context features for automatic ontology extension. PMID:31931870
Screening and Identification of Molecular Targets Involved in Preventing Gastric Precancerous Lesions in Chronic Atrophic Gastritis by Qilianshupi Decoction. PMID:31929816
Systematic analysis of lncRNA and microRNA dynamic features reveals diagnostic and prognostic biomarkers of myocardial infarction. PMID:31927529
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases. PMID:31920494
Network Pharmacology Approach Reveals the Potential Immune Function Activation and Tumor Cell Apoptosis Promotion of Xia Qi Decoction in Lung Cancer. PMID:31905767
The exploration of disease-specific gene regulatory networks in esophageal carcinoma and stomach adenocarcinoma. PMID:31888440
Identification of infectious disease-associated host genes using machine learning techniques. PMID:31881961
HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks. PMID:31865916
Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System. PMID:31850066
Association of polymorphism in heat shock protein 70 genes with type 2 diabetes in Bangladeshi population. PMID:31816668
Exploring the Pharmacological Mechanism of Quercetin-Resveratrol Combination for Polycystic Ovary Syndrome: A Systematic Pharmacological Strategy-Based Research. PMID:31804513
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants. PMID:31799076
A Literature-Based Knowledge Graph Embedding Method for Identifying Drug Repurposing Opportunities in Rare Diseases. PMID:31797619
Using a Large Margin Context-Aware Convolutional Neural Network to Automatically Extract Disease-Disease Association from Literature: Comparative Analytic Study. PMID:31769759
I3: A Self-organising Learning Workflow for Intuitive Integrative Interpretation of Complex Genetic Data. PMID:31765831
A network-based approach to uncover microRNA-mediated disease comorbidities and potential pathobiological implications. PMID:31754458
Ranking of non-coding pathogenic variants and putative essential regions of the human genome. PMID:31748530
Predicting drug-disease associations via sigmoid kernel-based convolutional neural networks. PMID:31747915
Discovery of disease- and drug-specific pathways through community structures of a literature network. PMID:31738408
Enriching Human Interactome with Functional Mutations to Detect High-Impact Network Modules Underlying Complex Diseases. PMID:31731769
Identification of candidate cancer drivers by integrative Epi-DNA and Gene Expression (iEDGE) data analysis. PMID:31729402
Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation. PMID:31712642
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
Systematic Pharmacological Methodology to Explore the Pharmacological Mechanism of Siwu Decoction for Osteoporosis. PMID:31666500
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
Universal concept signature analysis: genome-wide quantification of new biological and pathological functions of genes and pathways. PMID:31631213
VarSight: prioritizing clinically reported variants with binary classification algorithms. PMID:31615419
Predicting circRNA-Disease Associations Based on Improved Collaboration Filtering Recommendation System With Multiple Data. PMID:31608124
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. PMID:31607425
Investigating the Multi-Target Pharmacological Mechanism of Hedyotis diffusa Willd Acting on Prostate Cancer: A Network Pharmacology Approach. PMID:31600936
Evidence of Neutral Evolution of Mitochondrial DNA in Human Hepatocellular Carcinoma. PMID:31599941
Discovery of Novel Sequences in 1,000 Swedish Genomes. PMID:31560401
Drug repurposing for breast cancer therapy: Old weapon for new battle. PMID:31550502
Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations. PMID:31517177
A Multi-Label Learning Framework for Drug Repurposing. PMID:31505805
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. PMID:31500643
A corpus of plant-disease relations in the biomedical domain. PMID:31461491
A Novel Computational Model for Predicting microRNA-Disease Associations Based on Heterogeneous Graph Convolutional Networks. PMID:31455028
Dataset of the frequency patterns of publications annotated to human protein-coding genes, their protein products and genetic relevance. PMID:31453287
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study. PMID:31440271
Exploring the new horizons of drug repurposing: A vital tool for turning hard work into smart work. PMID:31421629
Additional Neural Matrix Factorization model for computational drug repositioning. PMID:31412762
The Methodological Trends of Traditional Herbal Medicine Employing Network Pharmacology. PMID:31412658
A network pharmacology-based study on the anti-hepatoma effect of Radix Salviae Miltiorrhizae. PMID:31406500
Integrated Analysis of DNA Methylation and Biochemical/Metabolic Parameter During the Long-Term Isolation Environment. PMID:31402871
Network Pharmacology-Based Prediction of the Active Compounds, Potential Targets, and Signaling Pathways Involved in Danshiliuhao Granule for Treatment of Liver Fibrosis. PMID:31354851
A review of drug knowledge discovery using BioNLP and tensor or matrix decomposition. PMID:31307133
A genetic-phenotypic classification for syndromic micrognathia. PMID:31273320
PTSD Biomarker Database: deep dive metadatabase for PTSD biomarkers, visualizations and analysis tools. PMID:31260040
Extracting Biomedical Terms from Postpartum Depression Online Health Communities. PMID:31259014
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology. PMID:31255713
A genetics-led approach defines the drug target landscape of 30 immune-related traits. PMID:31253980
In Silico Toxicology Data Resources to Support Read-Across and (Q)SAR. PMID:31244651
Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter. PMID:31212313
Identify the Key Active Ingredients and Pharmacological Mechanisms of Compound XiongShao Capsule in Treating Diabetic Peripheral Neuropathy by Network Pharmacology Approach. PMID:31210774
Analysis of disease organ as a novel phenotype towards disease genetics understanding. PMID:31207382
Systems Chemical Genetics-Based Drug Discovery: Prioritizing Agents Targeting Multiple/Reliable Disease-Associated Genes as Drug Candidates. PMID:31191604
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. PMID:31180560
Cancer adjuvant chemotherapy prediction model for non-small cell lung cancer. PMID:31170692
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. PMID:31160820
Identifying lncRNA-mediated regulatory modules via ChIA-PET network analysis. PMID:31142264
Molecular mechanisms involved in drug-induced liver injury caused by urate-lowering Chinese herbs: A network pharmacology study and biology experiments. PMID:31141540
HNCDB: An Integrated Gene and Drug Database for Head and Neck Cancer. PMID:31139565
Gegen Qinlian decoction enhances the effect of PD-1 blockade in colorectal cancer with microsatellite stability by remodelling the gut microbiota and the tumour microenvironment. PMID:31138779
Drug repositioning of herbal compounds via a machine-learning approach. PMID:31138103
In silico Identification and Mechanism Exploration of Hepatotoxic Ingredients in Traditional Chinese Medicine. PMID:31130860
Doc2Hpo: a web application for efficient and accurate HPO concept curation. PMID:31106327
GIDB: a knowledge database for the automated curation and multidimensional analysis of molecular signatures in gastrointestinal cancer. PMID:31089686
Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population. PMID:31072070
Genes with High Network Connectivity Are Enriched for Disease Heritability. PMID:31051114
TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes. PMID:31045203
The multiplex network of human diseases. PMID:31044086
CANCROX: a cross-species cancer therapy database. PMID:31032838
Genetic Variations and Precision Medicine. PMID:31019429
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). PMID:31015822
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer. PMID:31006514
HumCFS: a database of fragile sites in human chromosomes. PMID:30999860
Hierarchical sequence labeling for extracting BEL statements from biomedical literature. PMID:30961584
Deciphering the Pharmacological Mechanism of the Herb Radix Ophiopogonis in the Treatment of Nasopharyngeal Carcinoma by Integrating iTRAQ-Coupled 2-D LC-MS/MS Analysis and Network Investigation. PMID:30936832
Prediction of drug-disease associations based on ensemble meta paths and singular value decomposition. PMID:30925858
Curating gene sets: challenges and opportunities for integrative analysis. PMID:30888410
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population. PMID:30866607
Mechanism-based disease similarity. PMID:30854526
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. PMID:30850667
How to Develop a Drug Target Ontology: KNowledge Acquisition and Representation Methodology (KNARM). PMID:30848456
A new computational drug repurposing method using established disease-drug pair knowledge. PMID:30840053
Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing. PMID:30835913
Incorporating Knowledge-Driven Insights into a Collaborative Filtering Model to Facilitate the Differential Diagnosis of Rare Diseases. PMID:30815196
EnDisease: a manually curated database for enhancer-disease associations. PMID:30788500
PheWAS-Based Systems Genetics Methods for Anti-Breast Cancer Drug Discovery. PMID:30781719
Driver network as a biomarker: systematic integration and network modeling of multi-omics data to derive driver signaling pathways for drug combination prediction. PMID:30768150
Rare disease knowledge enrichment through a data-driven approach. PMID:30764825
Analyzing a co-occurrence gene-interaction network to identify disease-gene association. PMID:30736752
Systematically Characterizing Chemical Profile and Potential Mechanisms of Qingre Lidan Decoction Acting on Cholelithiasis by Integrating UHPLC-QTOF-MS and Network Target Analysis. PMID:30719056
Conserved Disease Modules Extracted From Multilayer Heterogeneous Disease and Gene Networks for Understanding Disease Mechanisms and Predicting Disease Treatments. PMID:30713550
Context-sensitive network analysis identifies food metabolites associated with Alzheimer's disease: an exploratory study. PMID:30704467
NeuroMuscleDB: a Database of Genes Associated with Muscle Development, Neuromuscular Diseases, Ageing, and Neurodegeneration. PMID:30684219
Stems cells, big data and compendium-based analyses for identifying cell types, signalling pathways and gene regulatory networks. PMID:30684132
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. PMID:30668673
DIABLO: an integrative approach for identifying key molecular drivers from multi-omics assays. PMID:30657866
Combining relation extraction with function detection for BEL statement extraction. PMID:30624649
Global analysis of N6-methyladenosine functions and its disease association using deep learning and network-based methods. PMID:30601803
Computational drug repositioning using meta-path-based semantic network analysis. PMID:30598084
Prediction of CircRNA-Disease Associations Using KATZ Model Based on Heterogeneous Networks. PMID:30585259
Nonlinear expression and visualization of nonmetric relationships in genetic diseases and microbiome data. PMID:30577738
Diagnosing rare diseases after the exome. PMID:30559314
Association of a potential functional mir-520f rs75598818 G>A polymorphism with breast cancer. PMID:30555079
SBLC: a hybrid model for disease named entity recognition based on semantic bidirectional LSTMs and conditional random fields. PMID:30526592
The Chinese herbal formula Fuzheng Quxie Decoction attenuates cognitive impairment and protects cerebrovascular function in SAMP8 mice. PMID:30519025
High-frequency actionable pathogenic exome variants in an average-risk cohort. PMID:30487145
Comparative expression profiling reveals widespread coordinated evolution of gene expression across eukaryotes. PMID:30470754
Network Pharmacology to Unveil the Biological Basis of Health-Strengthening Herbal Medicine in Cancer Treatment. PMID:30469422
Computational prediction of miRNAs in Nipah virus genome reveals possible interaction with human genes involved in encephalitis. PMID:30426028
Exploring Pharmacological Mechanisms of Xuefu Zhuyu Decoction in the Treatment of Traumatic Brain Injury via a Network Pharmacology Approach. PMID:30402137
The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project. PMID:30390178
Network pharmacology-based strategy to investigate pharmacological mechanisms of Zuojinwan for treatment of gastritis. PMID:30382864
SymMap: an integrative database of traditional Chinese medicine enhanced by symptom mapping. PMID:30380087
Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. PMID:30374096
Heterogeneous network embedding for identifying symptom candidate genes. PMID:30357378
Systematic identification and analysis of dysregulated miRNA and transcription factor feed-forward loops in hypertrophic cardiomyopathy. PMID:30338905
A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score. PMID:30258123
ATD: a comprehensive bioinformatics resource for deciphering the association of autophagy and diseases. PMID:30239683
Global Deletome Profile of Saccharomyces cerevisiae Exposed to the Technology-Critical Element Yttrium. PMID:30233513
Network pharmacology-based identification of major component of Angelica sinensis and its action mechanism for the treatment of acute myocardial infarction. PMID:30232231
Network-Based Approaches to Explore Complex Biological Systems towards Network Medicine. PMID:30200360
Comprehensive network map of interferon gamma signaling. PMID:30191398
CEA: Combination-based gene set functional enrichment analysis. PMID:30166636
Multifunctional Proteins: Involvement in Human Diseases and Targets of Current Drugs. PMID:30123928
Review of Drug Repositioning Approaches and Resources. PMID:30123072
Identification of pathways and genes associated with cerebral palsy. PMID:30109564
A network map of netrin receptor UNC5B-mediated signaling. PMID:30084000
Species-Specific Changes in a Primate Transcription Factor Network Provide Insights into the Molecular Evolution of the Primate Prefrontal Cortex. PMID:30059966
Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM). PMID:30032338
Prioritization and functional assessment of noncoding variants associated with complex diseases. PMID:29996888
Development of a Cannabinoid-Based Photoaffinity Probe to Determine the Δ8/9-Tetrahydrocannabinol Protein Interaction Landscape in Neuroblastoma Cells. PMID:29992186
Predicting Potential Drugs for Breast Cancer based on miRNA and Tissue Specificity. PMID:29989066
Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach. PMID:29973620
Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions. PMID:29949603
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. PMID:29934635
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. PMID:29915382
Repurposing sertraline sensitizes non-small cell lung cancer cells to erlotinib by inducing autophagy. PMID:29875309
Network-based machine learning and graph theory algorithms for precision oncology. PMID:29872707
Network Pharmacology-Based Approach to Investigate the Mechanisms of Hedyotis diffusa Willd. in the Treatment of Gastric Cancer. PMID:29853970
Network-Based Disease Module Discovery by a Novel Seed Connector Algorithm with Pathobiological Implications. PMID:29791871
Genomic sequencing identifies secondary findings in a cohort of parent study participants. PMID:29790872
Measuring coverage and accuracy of whole-exome sequencing in clinical context. PMID:29789557
A workflow for the integrative transcriptomic description of molecular pathology and the suggestion of normalizing compounds, exemplified by Parkinson's disease. PMID:29784986
A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology. PMID:29745853
Prediction of microRNA and gene target from an integrated network in chronic obstructive pulmonary disease based on canonical correlation analysis. PMID:29710745
New perspectives: systems medicine in cardiovascular disease. PMID:29699591
Exploring the Pharmacological Mechanism of Danzhi Xiaoyao Powder on ER-Positive Breast Cancer by a Network Pharmacology Approach. PMID:29692855
A systems biology approach to predict and characterize human gut microbial metabolites in colorectal cancer. PMID:29670137
Detecting Disease Specific Pathway Substructures through an Integrated Systems Biology Approach. PMID:29657291
Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. PMID:29615537
Heterogeneous network propagation for herb target identification. PMID:29589568
Facilitating Anti-Cancer Combinatorial Drug Discovery by Targeting Epistatic Disease Genes. PMID:29570606
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology. PMID:29564678
Exploring the Mechanism of Dangguiliuhuang Decoction Against Hepatic Fibrosis by Network Pharmacology and Experimental Validation. PMID:29556199
Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies. PMID:29538399
IMPPAT: A curated database of Indian Medicinal Plants, Phytochemistry And Therapeutics. PMID:29531263
A global network of biomedical relationships derived from text. PMID:29490008
Global view of a drug-sensitivity gene network. PMID:29423044
Prioritizing disease genes with an improved dual label propagation framework. PMID:29422030
Estimating the mutational load for cardiovascular diseases in Pakistani population. PMID:29420653
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. PMID:29416752
CoVaCS: a consensus variant calling system. PMID:29402227
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients. PMID:29367705
Systematic target function annotation of human transcription factors. PMID:29325558
Simultaneous inference of phenotype-associated genes and relevant tissues from GWAS data via Bayesian integration of multiple tissue-specific gene networks. PMID:29300920
Predicting drug-disease interactions by semi-supervised graph cut algorithm and three-layer data integration. PMID:29297383
Investigations on factors influencing HPO-based semantic similarity calculation. PMID:29297376
Probability-based collaborative filtering model for predicting gene-disease associations. PMID:29297351
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology. PMID:29295162
Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective. PMID:29258237
WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data. PMID:29255179
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
LRSSLMDA: Laplacian Regularized Sparse Subspace Learning for MiRNA-Disease Association prediction. PMID:29253885
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. PMID:29243736
Gene gravity-like algorithm for disease gene prediction based on phenotype-specific network. PMID:29212543
Predicting new indications of compounds with a network pharmacology approach: Liuwei Dihuang Wan as a case study. PMID:29212201
Uncovering the Pharmacological Mechanism of Astragalus Salvia Compound on Pregnancy-Induced Hypertension Syndrome by a Network Pharmacology Approach. PMID:29203792
A network pharmacology approach to investigate the pharmacological effects of Guizhi Fuling Wan on uterine fibroids. PMID:29201170
Protein-protein interaction analysis to identify biomarker networks for endometriosis. PMID:29201163
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Protein complex scaffolding predicted as a prevalent function of long non-coding RNAs. PMID:29165713
Using molecular functional networks to manifest connections between obesity and obesity-related diseases. PMID:29156709
MultitaskProtDB-II: an update of a database of multitasking/moonlighting proteins. PMID:29136215
Chromosome preference of disease genes and vectorization for the prediction of non-coding disease genes. PMID:29108274
Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease. PMID:29059182
Cellular network perturbations by disease-associated variants. PMID:29057377
Comparative genomic analyses highlight the contribution of pseudogenized protein-coding genes to human lincRNAs. PMID:29037146
DISNOR: a disease network open resource. PMID:29036667
A nonparametric significance test for sampled networks. PMID:29036452
A new synonym-substitution method to enrich the human phenotype ontology. PMID:29017443
Functional 5' UTR motif discovery with LESMoN: Local Enrichment of Sequence Motifs in biological Networks. PMID:28977652
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
A non-negative matrix factorization based method for predicting disease-associated miRNAs in miRNA-disease bilayer network. PMID:28968753
Gene Regulation Network Based Analysis Associated with TGF-βeta Stimulation in Lung Adenocarcinoma Cells. PMID:28959347
BRWLDA: bi-random walks for predicting lncRNA-disease associations. PMID:28947982
Computational prediction of human disease-related microRNAs by path-based random walk. PMID:28938576
Understanding mutational effects in digenic diseases. PMID:28911095
Main active constituent identification in Guanxinjing capsule, a traditional Chinese medicine, for the treatment of coronary heart disease complicated with depression. PMID:28858293
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
Molecular mechanisms of the analgesic action of Wu-tou Decoction on neuropathic pain in mice revealed using microarray and network analysis. PMID:28816231
Myst2/Kat7 histone acetyltransferase interaction proteomics reveals tumour-suppressor Niam as a novel binding partner in embryonic stem cells. PMID:28811661
Annotating pathogenic non-coding variants in genic regions. PMID:28794409
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. PMID:28726811
Genome-Wide Polygenic Scores Predict Reading Performance Throughout the School Years. PMID:28706435
Construction of competitive endogenous RNA network reveals regulatory role of long non-coding RNAs in type 2 diabetes mellitus. PMID:28643459
HGPEC: a Cytoscape app for prediction of novel disease-gene and disease-disease associations and evidence collection based on a random walk on heterogeneous network. PMID:28619054
Accurate prediction of functional effects for variants by combining gradient tree boosting with optimal neighborhood properties. PMID:28614374
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. PMID:28604728
MetabolitePredict: A de novo human metabolomics prediction system and its applications in rheumatoid arthritis. PMID:28600026
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. PMID:28594829
A disease similarity matrix based on the uniqueness of shared genes. PMID:28589854
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. PMID:28574513
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. PMID:28572275
Genomic diagnosis for children with intellectual disability and/or developmental delay. PMID:28554332
Identifying pathogenicity of human variants via paralog-based yeast complementation. PMID:28542158
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. PMID:28539665
Network mirroring for drug repositioning. PMID:28539121
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. PMID:28512736
Leveraging multiple genomic data to prioritize disease-causing indels from exome sequencing data. PMID:28496131
Common sequence variants affect molecular function more than rare variants? PMID:28487536
Inferring miRNA sponge co-regulation of protein-protein interactions in human breast cancer. PMID:28482794
Gene ORGANizer: linking genes to the organs they affect. PMID:28444223
Deep mining heterogeneous networks of biomedical linked data to predict novel drug-target associations. PMID:28430977
A large-scale benchmark of gene prioritization methods. PMID:28429739
Improving data workflow systems with cloud services and use of open data for bioinformatics research. PMID:28419324
Use of Graph Database for the Integration of Heterogeneous Biological Data. PMID:28416946
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. PMID:28397838
Lessons from the CAGI-4 Hopkins clinical panel challenge. PMID:28397312
Proof-of-Concept Workflow for Establishing Reference Intervals of Human Urine Proteome for Monitoring Physiological and Pathological Changes. PMID:28396014
Integrated network analysis reveals potentially novel molecular mechanisms and therapeutic targets of refractory epilepsies. PMID:28388656
Using structural knowledge in the protein data bank to inform the search for potential host-microbe protein interactions in sequence space: application to Mycobacterium tuberculosis. PMID:28376709
Identifying miRNA sponge modules using biclustering and regulatory scores. PMID:28361682
In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis. PMID:28339466
Large-scale prediction of microRNA-disease associations by combinatorial prioritization algorithm. PMID:28317855
The essential and downstream common proteins of amyotrophic lateral sclerosis: A protein-protein interaction network analysis. PMID:28282387
GT2RDF: Semantic Representation of Genetic Testing Data. PMID:28269903
Genome-Scale Reconstruction of the Human Astrocyte Metabolic Network. PMID:28243200
Drug voyager: a computational platform for exploring unintended drug action. PMID:28241745
Insights into the molecular mechanisms of Polygonum multiflorum Thunb-induced liver injury: a computational systems toxicology approach. PMID:28239160
FocusHeuristics - expression-data-driven network optimization and disease gene prediction. PMID:28205611
Using predictive specificity to determine when gene set analysis is biologically meaningful. PMID:28204549
Predicting disease-related genes using integrated biomedical networks. PMID:28198675
Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case. PMID:28196369
Var2GO: a web-based tool for gene variants selection. PMID:28185576
Protein Bioinformatics Databases and Resources. PMID:28150231
A Systematic Framework for Drug Repositioning from Integrated Omics and Drug Phenotype Profiles Using Pathway-Drug Network. PMID:28127549
Identification of shared and unique gene families associated with oral clefts. PMID:28106045
Tianfoshen oral liquid: a CFDA approved clinical traditional Chinese medicine, normalizes major cellular pathways disordered during colorectal carcinogenesis. PMID:28099904
An analysis of disease-gene relationship from Medline abstracts by DigSee. PMID:28054646
Network pharmacology-based identification of key pharmacological pathways of Yin-Huang-Qing-Fei capsule acting on chronic bronchitis. PMID:28053519
Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. PMID:28053046
CanProVar 2.0: An Updated Database of Human Cancer Proteome Variation. PMID:27977206
Increased burden of deleterious variants in essential genes in autism spectrum disorder. PMID:27956632
Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes. PMID:27939638
FARNA: knowledgebase of inferred functions of non-coding RNA transcripts. PMID:27924038
Localized structural frustration for evaluating the impact of sequence variants. PMID:27915290
Uncover miRNA-Disease Association by Exploiting Global Network Similarity. PMID:27907011
KBG syndrome involving a single-nucleotide duplication in ANKRD11. PMID:27900361
SCN8A mutation in a child presenting with seizures and developmental delays. PMID:27900360
ChimerDB 3.0: an enhanced database for fusion genes from cancer transcriptome and literature data mining. PMID:27899563
Enzymatic Activity and Thermodynamic Stability of Biliverdin IXβ Reductase Are Maintained by an Active Site Serine. PMID:27897348
Genetics and genomic medicine in Morocco: the present hope can make the future bright. PMID:27896281
Systematic Analysis of Protein Interaction Network Associated with Azoospermia. PMID:27834916
Disease gene prioritization by integrating tissue-specific molecular networks using a robust multi-network model. PMID:27829360
Harnessing Big Data for Systems Pharmacology. PMID:27814027
The Pre-Eclampsia Ontology: A Disease Ontology Representing the Domain Knowledge Specific to Pre-Eclampsia. PMID:27788142
Network Consistency Projection for Human miRNA-Disease Associations Inference. PMID:27779232
Dissecting the biological relationship between TCGA miRNA and mRNA sequencing data using MMiRNA-Viewer. PMID:27766936
Dione: An OWL representation of ICD-10-CM for classifying patients' diseases. PMID:27737720
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. PMID:27694994
Prediction of new drug indications based on clinical data and network modularity. PMID:27678071
In silico prediction of chemical mechanism of action via an improved network-based inference method. PMID:27646592
Mapping Phenotypic Information in Heterogeneous Textual Sources to a Domain-Specific Terminological Resource. PMID:27643689
Systems Biology-Based Investigation of Cellular Antiviral Drug Targets Identified by Gene-Trap Insertional Mutagenesis. PMID:27632082
Sieve-based coreference resolution enhances semi-supervised learning model for chemical-induced disease relation extraction. PMID:27630201
High-throughput discovery of novel developmental phenotypes. PMID:27626380
Systems Medicine as an Emerging Tool for Cardiovascular Genetics. PMID:27626034
Comparative analysis of housekeeping and tissue-specific driver nodes in human protein interaction networks. PMID:27612563
Functional networks inference from rule-based machine learning models. PMID:27597880
Towards understanding brain-gut-microbiome connections in Alzheimer's disease. PMID:27585440
Discover the network underlying the connections between aging and age-related diseases. PMID:27582315
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders. PMID:27580923
Predicted Molecular Effects of Sequence Variants Link to System Level of Disease. PMID:27536940
Discovering gene expression signatures responding to tyrosine kinase inhibitor treatment in chronic myeloid leukemia. PMID:27534394
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. PMID:27479844
Common disease signatures from gene expression analysis in Huntington's disease human blood and brain. PMID:27476530
A network based approach to drug repositioning identifies plausible candidates for breast cancer and prostate cancer. PMID:27475327
Signaling network map of the aryl hydrocarbon receptor. PMID:27465749
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. PMID:27456059
The Use of Speckle Tracking Echocardiography for Early Detection of Myocardial Dysfunction in Patients with Duchenne Muscular Dystrophy. PMID:27452803
The nonessentiality of essential genes in yeast provides therapeutic insights into a human disease. PMID:27440870
Systematic investigation of transcription factors critical in the protection against cerebral ischemia by Danhong injection. PMID:27431009
BcCluster: A Bladder Cancer Database at the Molecular Level. PMID:27376128
Conservation in Mammals of Genes Associated with Aggression-Related Behavioral Phenotypes in Honey Bees. PMID:27359102
Pathway and network-based strategies to translate genetic discoveries into effective therapies. PMID:27340225
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study. PMID:27329291
A network-driven approach for genome-wide association mapping. PMID:27307613
Systems pharmacology to investigate the interaction of berberine and other drugs in treating polycystic ovary syndrome. PMID:27306862
Guizhi-Shaoyao-Zhimu decoction attenuates rheumatoid arthritis partially by reversing inflammation-immune system imbalance. PMID:27277474
Omics databases on kidney disease: where they can be found and how to benefit from them. PMID:27274817
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. PMID:27260402
The Orthology Ontology: development and applications. PMID:27259657
The Use of Protein-Protein Interactions for the Analysis of the Associations between PM2.5 and Some Diseases. PMID:27243032
Robust Multi-Network Clustering via Joint Cross-Domain Cluster Alignment. PMID:27239167
Identification of polycystic ovary syndrome potential drug targets based on pathobiological similarity in the protein-protein interaction network. PMID:27191267
Identification of the anti-tumor activity and mechanisms of nuciferine through a network pharmacology approach. PMID:27180984
PinSnps: structural and functional analysis of SNPs in the context of protein interaction networks. PMID:27153707
Building a glaucoma interaction network using a text mining approach. PMID:27152122
Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development. PMID:27150584
Ligand cluster-based protein network and ePlatton, a multi-target ligand finder. PMID:27143991
An integrated signal transduction network of macrophage migration inhibitory factor. PMID:27139435
CoReCG: a comprehensive database of genes associated with colon-rectal cancer. PMID:27114494
The concerted impact of domestication and transposon insertions on methylation patterns between dogs and grey wolves. PMID:27112634
Empowered genome community: leveraging a bioinformatics platform as a citizen-scientist collaboration tool. PMID:27054071
Polymorphism of rs3737597 in DISC1 Gene on Chromosome 1q42.2 in sALS Patients: a Chinese Han Population Case-Control Study. PMID:27052956
A pan-cancer analysis of prognostic genes. PMID:27047702
SoftPanel: a website for grouping diseases and related disorders for generation of customized panels. PMID:27044653
Metabolomic network analysis of estrogen-stimulated MCF-7 cells: a comparison of overrepresentation analysis, quantitative enrichment analysis and pathway analysis versus metabolite network analysis. PMID:27039105
Pathogenic Network Analysis Predicts Candidate Genes for Cervical Cancer. PMID:27034707
A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe. PMID:27014338
Using PSEA-Quant for Protein Set Enrichment Analysis of Quantitative Mass Spectrometry-Based Proteomics. PMID:27010334
Illuminating drug action by network integration of disease genes: a case study of myocardial infarction. PMID:27004607
KinetochoreDB: a comprehensive online resource for the kinetochore and its related proteins. PMID:26989151
GeneAnalytics: An Integrative Gene Set Analysis Tool for Next Generation Sequencing, RNAseq and Microarray Data. PMID:26983021
HerDing: herb recommendation system to treat diseases using genes and chemicals. PMID:26980517
DenguePredict: An Integrated Drug Repositioning Approach towards Drug Discovery for Dengue. PMID:26958268
LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems. PMID:26958175
Genome-Wide Association Study to Identify Genes Related to Renal Mercury Concentrations in Mice. PMID:26942574
shRNA target prediction informed by comprehensive enquiry (SPICE): a supporting system for high-throughput screening of shRNA library. PMID:26941783
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. PMID:26919060
Comparative analysis of housekeeping and tissue-selective genes in human based on network topologies and biological properties. PMID:26897376
The exploration of network motifs as potential drug targets from post-translational regulatory networks. PMID:26853265
Integration of Multiple Genomic and Phenotype Data to Infer Novel miRNA-Disease Associations. PMID:26849207
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. PMID:26838676
PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sources. PMID:26834980
Chamber Specific Gene Expression Landscape of the Zebrafish Heart. PMID:26815362
Accelerating Adverse Outcome Pathway Development Using Publicly Available Data Sources. PMID:26809562
Network-based analysis of genetic variants associated with hippocampal volume in Alzheimer's disease: a study of ADNI cohorts. PMID:26788126
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data. PMID:26764020
Network Analysis of Human Genes Influencing Susceptibility to Mycobacterial Infections. PMID:26751573
In Silico Functional Annotation of Genomic Variation. PMID:26724722
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. PMID:26716990
BigQ: a NoSQL based framework to handle genomic variants in i2b2. PMID:26714792
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. PMID:26712023
Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome. PMID:26702067
The European Bioinformatics Institute in 2016: Data growth and integration. PMID:26673705
DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations. PMID:26673408
Reads meet rotamers: structural biology in the age of deep sequencing. PMID:26658741
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS. PMID:26601959
An Effective Method to Identify Shared Pathways and Common Factors among Neurodegenerative Diseases. PMID:26575483
Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling. PMID:26549015
Comparison of genetic variants in matched samples using thesaurus annotation. PMID:26545822
Modular organization of the human disease genes: a text-based network inference. PMID:26527852
Pharmacogenetics of analgesic drugs. PMID:26516523
Multiple SNP Set Analysis for Genome-Wide Association Studies Through Bayesian Latent Variable Selection. PMID:26515609
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases. PMID:26507285
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. PMID:26494363
A Glimpse to Background and Characteristics of Major Molecular Biological Networks. PMID:26491677
The human gene damage index as a gene-level approach to prioritizing exome variants. PMID:26483451
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases. PMID:26477495
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data. PMID:26459872
HEALER: homomorphic computation of ExAct Logistic rEgRession for secure rare disease variants analysis in GWAS. PMID:26446135
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data. PMID:26437450
PUBLIC HEALTH AND EPIDEMIOLOGICAL DATABASES FOR THE ENHANCEMENT OF MEDICAL EDUCATION. PMID:26392847
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. PMID:26392352
Interactive Big Data Resource to Elucidate Human Immune Pathways and Diseases. PMID:26362267
Computational approaches to study the effects of small genomic variations. PMID:26350246
Cell type-selective disease-association of genes under high regulatory load. PMID:26338775
Applications of comparative evolution to human disease genetics. PMID:26338499
A computational framework for the prioritization of disease-gene candidates. PMID:26330267
Mapping the Conformation Space of Wildtype and Mutant H-Ras with a Memetic, Cellular, and Multiscale Evolutionary Algorithm. PMID:26325505
Anatomy of protein disorder, flexibility and disease-related mutations. PMID:26322316
Genome-wide haplotype association analysis identifies SERPINB9, SERPINE2, GAK, and HSP90B1 as novel risk genes for oral squamous cell carcinoma. PMID:26318431
Curation of the Mammalian Palmitoylome Indicates a Pivotal Role for Palmitoylation in Diseases and Disorders of the Nervous System and Cancers. PMID:26275289
Prediction of MicroRNA-Disease Associations Based on Social Network Analysis Methods. PMID:26273645
MicroRNA and transcription factor mediated regulatory network analysis reveals critical regulators and regulatory modules in myocardial infarction. PMID:26258537
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. PMID:26255989
FROG - Fingerprinting Genomic Variation Ontology. PMID:26244889
Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL. PMID:26236721
A guide on gene prioritization in studies of psychiatric disorders. PMID:26230968
Learning the Structure of Biomedical Relationships from Unstructured Text. PMID:26219079
Knowledge transfer via classification rules using functional mapping for integrative modeling of gene expression data. PMID:26202217
Putative effectors for prognosis in lung adenocarcinoma are ethnic and gender specific. PMID:26160836
Novel drug target identification for the treatment of dementia using multi-relational association mining. PMID:26154857
PhenoPredict: A disease phenome-wide drug repositioning approach towards schizophrenia drug discovery. PMID:26151312
Better prediction of functional effects for sequence variants. PMID:26110438
A genome-wide systems analysis reveals strong link between colorectal cancer and trimethylamine N-oxide (TMAO), a gut microbial metabolite of dietary meat and fat. PMID:26100814
Using text mining techniques to extract phenotypic information from the PhenoCHF corpus. PMID:26099853
The expression of tumour suppressors and proto-oncogenes in tissues susceptible to their hereditary cancers. PMID:26079304
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. PMID:26070612
Systems biology of neurodegenerative diseases. PMID:26065845
Prediction of Metabolic Gene Biomarkers for Neurodegenerative Disease by an Integrated Network-Based Approach. PMID:26064912
Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature. PMID:26047637
Network-based prediction and knowledge mining of disease genes. PMID:26043920
DISMIRA: Prioritization of disease candidates in miRNA-disease associations based on maximum weighted matching inference model and motif-based analysis. PMID:26040329
Concept selection for phenotypes and diseases using learn to rank. PMID:26034558
Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy. PMID:26031632
SPECTRA: An Integrated Knowledge Base for Comparing Tissue and Tumor-Specific PPI Networks in Human. PMID:26005672
DBDiaSNP: An Open-Source Knowledgebase of Genetic Polymorphisms and Resistance Genes Related to Diarrheal Pathogens. PMID:25978092
CEMTDD: The database for elucidating the relationships among herbs, compounds, targets and related diseases for Chinese ethnic minority traditional drugs. PMID:25970778
Analysis of Cynandione A's Anti-Ischemic Stroke Effects from Pathways and Protein-Protein Interactome. PMID:25955557
Towards drug repositioning: a unified computational framework for integrating multiple aspects of drug similarity and disease similarity. PMID:25954437
Determining minimum set of driver nodes in protein-protein interaction networks. PMID:25947063
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. PMID:25941534
Deciphering the pharmacological mechanism of the Chinese formula huanglian-jie-du decoction in the treatment of ischemic stroke using a systems biology-based strategy. PMID:25937634
PolySearch2: a significantly improved text-mining system for discovering associations between human diseases, genes, drugs, metabolites, toxins and more. PMID:25925572
Computational algorithms to predict Gene Ontology annotations. PMID:25916950
Understanding multicellular function and disease with human tissue-specific networks. PMID:25915600
RecRWR: a recursive random walk method for improved identification of diseases. PMID:25874227
Mining disease genes using integrated protein-protein interaction and gene-gene co-regulation information. PMID:25870785
Diverse array-designed modes of combination therapies in Fangjiomics. PMID:25864646
A comparative study of disease genes and drug targets in the human protein interactome. PMID:25861037
Uncovering pharmacological mechanisms of Wu-tou decoction acting on rheumatoid arthritis through systems approaches: drug-target prediction, network analysis and experimental validation. PMID:25820382
Colorectal cancer drug target prediction using ontology-based inference and network analysis. PMID:25818893
ICan: an integrated co-alteration network to identify ovarian cancer-related genes. PMID:25803614
Supporting the annotation of chronic obstructive pulmonary disease (COPD) phenotypes with text mining workflows. PMID:25789153
Automatic concept recognition using the human phenotype ontology reference and test suite corpora. PMID:25725061
Pinpointing disease genes through phenomic and genomic data fusion. PMID:25708473
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. PMID:25706643
Disease networks. Uncovering disease-disease relationships through the incomplete interactome. PMID:25700523
Network propagation with dual flow for gene prioritization. PMID:25689268
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology. PMID:25664462
Hypothalamic gene expression underlying pre-hibernation satiety. PMID:25640202
Genome-wide detection and characterization of positive selection in Korean Native Black Pig from Jeju Island. PMID:25634476
FXR antagonism of NSAIDs contributes to drug-induced liver injury identified by systems pharmacology approach. PMID:25631039
Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area. PMID:25598768
Protein interactome of muscle invasive bladder cancer. PMID:25569276
Protein sector analysis for the clustering of disease-associated mutations. PMID:25559331
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization. PMID:25550428
Insights from systems pharmacology into cardiovascular drug discovery and therapy. PMID:25539592
Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network. PMID:25538735
Sequence search and analysis of gene products containing RNA recognition motifs in the human genome. PMID:25534245
SG-ADVISER CNV: copy-number variant annotation and interpretation. PMID:25521334
Assessment of subnetwork detection methods for breast cancer. PMID:25520555
Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases. PMID:25479423
Monoallelic expression of the human FOXP2 speech gene. PMID:25422445
A proteome-scale map of the human interactome network. PMID:25416956
Pathway connectivity and signaling coordination in the yeast stress-activated signaling network. PMID:25411400
Classification and visualization based on derived image features: application to genetic syndromes. PMID:25405460
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. PMID:25401298
Systematic analysis of new drug indications by drug-gene-disease coherent subnetworks. PMID:25390685
Europe PMC: a full-text literature database for the life sciences and platform for innovation. PMID:25378340
A census of human RNA-binding proteins. PMID:25365966
GeneFriends: a human RNA-seq-based gene and transcript co-expression database. PMID:25361971
Genenames.org: the HGNC resources in 2015. PMID:25361968
Visualization of genetic disease-phenotype similarities by multiple maps t-SNE with Laplacian regularization. PMID:25350393
MitProNet: A knowledgebase and analysis platform of proteome, interactome and diseases for mammalian mitochondria. PMID:25347823
Network-based analysis of comorbidities risk during an infection: SARS and HIV case studies. PMID:25344230
Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. PMID:25340632
Disease variants in genomes of 44 centenarians. PMID:25333069
GroupRank: rank candidate genes in PPI network by differentially expressed gene groups. PMID:25330105
Organ system heterogeneity DB: a database for the visualization of phenotypes at the organ system level. PMID:25313158
Phylostratigraphic bias creates spurious patterns of genome evolution. PMID:25312911
Executing SADI services in Galaxy. PMID:25309716
Evolutionary profiling reveals the heterogeneous origins of classes of human disease genes: implications for modeling disease genetics in animals. PMID:25281000
Comparative analysis of a novel disease phenotype network based on clinical manifestations. PMID:25277758
Quantifying the impact and extent of undocumented biomedical synonymy. PMID:25255227
Renal Gene Expression Database (RGED): a relational database of gene expression profiles in kidney disease. PMID:25252782
Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array. PMID:25248638
Combining structural modeling with ensemble machine learning to accurately predict protein fold stability and binding affinity effects upon mutation. PMID:25243403
System analysis of LWDH related genes based on text mining in biological networks. PMID:25243143
Integration strategy is a key step in network-based analysis and dramatically affects network topological properties and inferring outcomes. PMID:25243127
Human germline and pan-cancer variomes and their distinct functional profiles. PMID:25232094
Predicting disease associations via biological network analysis. PMID:25228247
Principal component analysis characterizes shared pathogenetics from genome-wide association studies. PMID:25211452
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease. PMID:25201102
Biological network exploration with Cytoscape 3. PMID:25199793
A systematic approach to identify novel cancer drug targets using machine learning, inhibitor design and high-throughput screening. PMID:25165489
Lean Big Data integration in systems biology and systems pharmacology. PMID:25109570
Integrative analysis reveals disease-associated genes and biomarkers for prostate cancer progression. PMID:25080090
Systematic analysis of gene properties influencing organ system phenotypes in mammalian perturbations. PMID:25061072
sapFinder: an R/Bioconductor package for detection of variant peptides in shotgun proteomics experiments. PMID:25053745
Multi-tissue computational modeling analyzes pathophysiology of type 2 diabetes in MKR mice. PMID:25029527
Degree-adjusted algorithm for prioritisation of candidate disease genes from gene expression and protein interactome. PMID:25014224
Predicting disease-related proteins based on clique backbone in protein-protein interaction network. PMID:25013377
Processing biological literature with customizable Web services supporting interoperable formats. PMID:25006225
Quantitative network mapping of the human kinome interactome reveals new clues for rational kinase inhibitor discovery and individualized cancer therapy. PMID:25003367
Two-layer modular analysis of gene and protein networks in breast cancer. PMID:24997799
Network based integrated analysis of phenotype-genotype data for prioritization of candidate symptom genes. PMID:24991551
Drug repositioning by integrating target information through a heterogeneous network model. PMID:24974205
Identification of novel elements of the Drosophila blisterome sheds light on potential pathological mechanisms of several human diseases. PMID:24968325
'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration. PMID:24939193
Nanoinformatics knowledge infrastructures: bringing efficient information management to nanomedical research. PMID:24932210
Applying MetaMap to Medline for identifying novel associations in a large clinical dataset: a feasibility analysis. PMID:24928177
A novel method for gathering and prioritizing disease candidate genes based on construction of a set of disease-related MeSH® terms. PMID:24917541
A systems biology investigation of neurodegenerative dementia reveals a pivotal role of autophagy. PMID:24908109
DiseaseConnect: a comprehensive web server for mechanism-based disease-disease connections. PMID:24895436
Studying tumorigenesis through network evolution and somatic mutational perturbations in the cancer interactome. PMID:24881052
Prediction of bacterial microRNAs and possible targets in human cell transcriptome. PMID:24871974
Pancreatic Cancer Database: an integrative resource for pancreatic cancer. PMID:24839966
Performance comparison of SNP detection tools with illumina exome sequencing data--an assessment using both family pedigree information and sample-matched SNP array data. PMID:24831545
The personal genome browser: visualizing functions of genetic variants. PMID:24799434
Defining functional DNA elements in the human genome. PMID:24753594
dRiskKB: a large-scale disease-disease risk relationship knowledge base constructed from biomedical text. PMID:24725842
Approaches for recognizing disease genes based on network. PMID:24707485
Quantum coupled mutation finder: predicting functionally or structurally important sites in proteins using quantum Jensen-Shannon divergence and CUDA programming. PMID:24694117
Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies. PMID:24651380
Modeling 3D facial shape from DNA. PMID:24651127
Kaleidoscopic protein-protein interactions in the life and death of ataxin-1: new strategies against protein aggregation. PMID:24636457
VNP: Interactive Visual Network Pharmacology of Diseases, Targets, and Drugs. PMID:24622768
A network pharmacology approach to understanding the mechanisms of action of traditional medicine: Bushenhuoxue formula for treatment of chronic kidney disease. PMID:24598793
A conceptual review on systems biology in health and diseases: from biological networks to modern therapeutics. PMID:24592295
A network map of the gastrin signaling pathway. PMID:24584707
Prioritizing protein complexes implicated in human diseases by network optimization. PMID:24565064
HMPAS: Human Membrane Protein Analysis System. PMID:24564858
ProphNet: a generic prioritization method through propagation of information. PMID:24564336
Network analysis of neurodegenerative disease highlights a role of Toll-like receptor signaling. PMID:24551850
A network pharmacology approach to determine active compounds and action mechanisms of ge-gen-qin-lian decoction for treatment of type 2 diabetes. PMID:24527048
Literature mining of genetic variants for curation: quantifying the importance of supplementary material. PMID:24520105
A network based method for analysis of lncRNA-disease associations and prediction of lncRNAs implicated in diseases. PMID:24498199
Loss of connectivity in cancer co-expression networks. PMID:24489837
Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter. PMID:24482635
Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. PMID:24454733
Systematic large-scale study of the inheritance mode of Mendelian disorders provides new insight into human diseasome. PMID:24448549
gsGator: an integrated web platform for cross-species gene set analysis. PMID:24423189
A network-based systematic study for the mechanism of the treatment of zhengs related to cough variant asthma. PMID:24348708
Bioinformatics analysis for the antirheumatic effects of huang-lian-jie-du-tang from a network perspective. PMID:24348693
Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying. PMID:24303249
Combining heterogenous data for prediction of disease related and pharmacogenes. PMID:24297559
Gene3D: Multi-domain annotations for protein sequence and comparative genome analysis. PMID:24270792
The central role of AMP-kinase and energy homeostasis impairment in Alzheimer's disease: a multifactor network analysis. PMID:24265728
Specialized Dynamical Properties of Promiscuous Residues Revealed by Simulated Conformational Ensembles. PMID:24250278
Development of a versatile enrichment analysis tool reveals associations between the maternal brain and mental health disorders, including autism. PMID:24245670
SMPDB 2.0: big improvements to the Small Molecule Pathway Database. PMID:24203708
Functional analysis of microRNA and transcription factor synergistic regulatory network based on identifying regulatory motifs in non-small cell lung cancer. PMID:24200043
The semantic web in translational medicine: current applications and future directions. PMID:24197933
Novel modeling of cancer cell signaling pathways enables systematic drug repositioning for distinct breast cancer metastases. PMID:24097821
Latent factor analysis facilitates modelling of oncogenic genes for colon adenocarcinoma. PMID:24067416
Systematic investigation of cancer-associated somatic point mutations in SNP databases. PMID:24022151
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation. PMID:23997956
Integration of cardiac proteome biology and medicine by a specialized knowledgebase. PMID:23965338
Combining evidence of preferential gene-tissue relationships from multiple sources. PMID:23950964
Prediction of microRNAs associated with human diseases based on weighted k most similar neighbors. PMID:23950912
Left ventricular noncompaction in Duchenne muscular dystrophy. PMID:23914774
The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility. PMID:23860041
Bioinformatics for spermatogenesis: annotation of male reproduction based on proteomics. PMID:23852026
JBioWH: an open-source Java framework for bioinformatics data integration. PMID:23846595
Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature. PMID:23828786
PUMA: a unified framework for penalized multiple regression analysis of GWAS data. PMID:23825936
Mining breast cancer genes with a network based noise-tolerant approach. PMID:23799982
Effect of single amino acid substitution observed in cancer on Pim-1 kinase thermodynamic stability and structure. PMID:23755147
Prioritization of candidate disease genes by topological similarity between disease and protein diffusion profiles. PMID:23734762
VisANT 4.0: Integrative network platform to connect genes, drugs, diseases and therapies. PMID:23716640
WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013. PMID:23703215
MetaRanker 2.0: a web server for prioritization of genetic variation data. PMID:23703204
Equivalent indels--ambiguous functional classes and redundancy in databases. PMID:23658777
An Integrative Platform of TCM Network Pharmacology and Its Application on a Herbal Formula, Qing-Luo-Yin. PMID:23653662
Signal propagation in protein interaction network during colorectal cancer progression. PMID:23586028
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis. PMID:23585529
Prediction of associations between OMIM diseases and microRNAs by random walk on OMIM disease similarity network. PMID:23576899
Similarity-based methods for potential human microRNA-disease association prediction. PMID:23570623
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. PMID:23555315
Seasonal and regional differences in gene expression in the brain of a hibernating mammal. PMID:23526982
PASE: a novel method for functional prediction of amino acid substitutions based on physicochemical properties. PMID:23508070
An integrated map of corticotropin-releasing hormone signaling pathway. PMID:23504413
Hunting human disease genes: lessons from the past, challenges for the future. PMID:23504071
crcTRP: a translational research platform for colorectal cancer. PMID:23431356
Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. PMID:23431257
Defining the extracellular matrix using proteomics. PMID:23419153
A new way to protect privacy in large-scale genome-wide association studies. PMID:23413435
Mining skeletal phenotype descriptions from scientific literature. PMID:23409017
HDAM: a resource of human disease associated mutations from next generation sequencing studies. PMID:23369322
Visualization of protein interaction networks: problems and solutions. PMID:23368786
Disease gene identification by random walk on multigraphs merging heterogeneous genomic and phenotype data. PMID:23282070
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. PMID:23255863
Signaling network of Oncostatin M pathway. PMID:23255051
A framework for annotating human genome in disease context. PMID:23251346
Wiki-pi: a web-server of annotated human protein-protein interactions to aid in discovery of protein function. PMID:23209562
Biomarker identification using text mining. PMID:23197989
Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency. PMID:23194362
Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. PMID:23181723
An efficient heuristic method for active feature acquisition and its application to protein-protein interaction prediction. PMID:23173746
A multicellular signal transduction network of AGE/RAGE signaling. PMID:23161412
Interpreting noncoding genetic variation in complex traits and human disease. PMID:23138309
C²Maps: a network pharmacology database with comprehensive disease-gene-drug connectivity relationships. PMID:23134618
A travel guide to Cytoscape plugins. PMID:23132118
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. PMID:23104991
Evolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases. PMID:23091697
Insights into the pathogenesis of axial spondyloarthropathy from network and pathway analysis. PMID:23046677
PAGED: a pathway and gene-set enrichment database to enable molecular phenotype discoveries. PMID:23046413
EpiExplorer: live exploration and global analysis of large epigenomic datasets. PMID:23034089
Exploiting protein-protein interaction networks for genome-wide disease-gene prioritization. PMID:23028459
Effects of psychological stress on innate immunity and metabolism in humans: a systematic analysis. PMID:23028447
Inferring novel gene-disease associations using Medical Subject Heading Over-representation Profiles. PMID:23021552
Online tools for bioinformatics analyses in nutrition sciences. PMID:22983844
AbsIDconvert: an absolute approach for converting genetic identifiers at different granularities. PMID:22967011
RhesusBase: a knowledgebase for the monkey research community. PMID:22965133
Coupled mutation finder: a new entropy-based method quantifying phylogenetic noise for the detection of compensatory mutations. PMID:22963049
Distinct and competitive regulatory patterns of tumor suppressor genes and oncogenes in ovarian cancer. PMID:22952919
A census of human soluble protein complexes. PMID:22939629
Sequencing and analysis of a South Asian-Indian personal genome. PMID:22938532
FunSAV: predicting the functional effect of single amino acid variants using a two-stage random forest model. PMID:22937107
Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics. PMID:22839973
Increased de novo copy number variants in the offspring of older males. PMID:22832608
Beyond captions: linking figures with abstract sentences in biomedical articles. PMID:22815711
Transcriptomine, a web resource for nuclear receptor signaling transcriptomes. PMID:22786849
GenomeGems: evaluation of genetic variability from deep sequencing data. PMID:22748151
A generalizable pre-clinical research approach for orphan disease therapy. PMID:22704758
A simple method for analyzing exome sequencing data shows distinct levels of nonsynonymous variation for human immune and nervous system genes. PMID:22701602
Biomine: predicting links between biological entities using network models of heterogeneous databases. PMID:22672646
Biomarker identification for prostate cancer and lymph node metastasis from microarray data and protein interaction network using gene prioritization method. PMID:22654636
The role of protein structural analysis in the next generation sequencing era. PMID:22610134
Prediction of drug-target interactions and drug repositioning via network-based inference. PMID:22589709
Analyzing effects of naturally occurring missense mutations. PMID:22577471
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. PMID:22573496
Inferring high-confidence human protein-protein interactions. PMID:22558947
Community of protein complexes impacts disease association. PMID:22549411
A genome resource to address mechanisms of developmental programming: determination of the fetal sheep heart transcriptome. PMID:22508961
An examination of the OMIM database for associating mutation to a consensus reference sequence. PMID:22477700
Functional repertoire, molecular pathways and diseases associated with 3D domain swapping in the human proteome. PMID:22472218
The transcription factor encyclopedia. PMID:22458515
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. PMID:22449239
High accordance in prognosis prediction of colorectal cancer across independent datasets by multi-gene module expression profiles. PMID:22438977
Structural stability of human protein tyrosine phosphatase ρ catalytic domain: effect of point mutations. PMID:22389709
A Resource of Quantitative Functional Annotation for Homo sapiens Genes. PMID:22384401
Assessing the utility of gene co-expression stability in combination with correlation in the analysis of protein-protein interaction networks. PMID:22369639
Prioritizing disease candidate genes by a gene interconnectedness-based approach. PMID:22369140
Rewiring of PDZ domain-ligand interaction network contributed to eukaryotic evolution. PMID:22346764
Proteomics and systems biology: current and future applications in the nutritional sciences. PMID:22332076
KB-Rank: efficient protein structure and functional annotation identification via text query. PMID:22270457
Sequencing and comparative genomic analysis of 1227 Felis catus cDNA sequences enriched for developmental, clinical and nutritional phenotypes. PMID:22257742
QTL/microarray approach using pathway information. PMID:22244197
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. PMID:22236433
Of toasters and molecular ticker tapes. PMID:22219716
Similarity-based disease risk assessment for personal genomes: proof of concept. PMID:22195217
SySAP: a system-level predictor of deleterious single amino acid polymorphisms. PMID:22183811
Cell-type-specific differentiation and molecular profiles in skin transplantation: implication of medical approach for genetic skin diseases. PMID:22174987
Mining FDA drug labels using an unsupervised learning technique--topic modeling. PMID:22166012
k-Neighborhood decentralization: a comprehensive solution to index the UMLS for large scale knowledge discovery. PMID:22154838
SNPedia: a wiki supporting personal genome annotation, interpretation and analysis. PMID:22140107
A novel method of transcriptional response analysis to facilitate drug repositioning for cancer therapy. PMID:22108825
Defining the role of essential genes in human disease. PMID:22096564
BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems. PMID:22084196
myKaryoView: a light-weight client for visualization of genomic data. PMID:22046276
Inferring pleiotropy by network analysis: linked diseases in the human PPI network. PMID:22034985
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. PMID:21992071
Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. PMID:21992066
Characterization of pathogenic germline mutations in human protein kinases. PMID:21992016
The BioAssay network and its implications to future therapeutic discovery. PMID:21988927
Functional analysis beyond enrichment: non-redundant reciprocal linkage of genes and biological terms. PMID:21949701
iCTNet: a Cytoscape plugin to produce and analyze integrative complex traits networks. PMID:21943367
Sequential alterations in catabolic and anabolic gene expression parallel pathological changes during progression of monoiodoacetate-induced arthritis. PMID:21931681
The representation of protein complexes in the Protein Ontology (PRO). PMID:21929785
Ranking candidate disease genes from gene expression and protein interaction: a Katz-centrality based approach. PMID:21912686
Using electronic patient records to discover disease correlations and stratify patient cohorts. PMID:21901084
Are mouse models of human mycobacterial diseases relevant? Genetics says: 'yes!'. PMID:21896006
An integrative approach to ortholog prediction for disease-focused and other functional studies. PMID:21880147
Application of computational systems biology to explore environmental toxicity hazards. PMID:21846611
The interplay between microscopic and mesoscopic structures in complex networks. PMID:21829597
Creating a "hopeful monster": mouse forward genetic screens. PMID:21805270
An integrated semiconductor device enabling non-optical genome sequencing. PMID:21776081
Genome sequence and global sequence variation map with 5.5 million SNPs in Chinese rhesus macaque. PMID:21733155
On the origins of Mendelian disease genes in man: the impact of gene duplication. PMID:21705381
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PMID:21695124
Integrative computational biology for cancer research. PMID:21691773
Do cancer proteins really interact strongly in the human protein-protein interaction network? PMID:21666777
g:Profiler--a web server for functional interpretation of gene lists (2011 update). PMID:21646343
Semantic-JSON: a lightweight web service interface for Semantic Web contents integrating multiple life science databases. PMID:21632604
Protein localization as a principal feature of the etiology and comorbidity of genetic diseases. PMID:21613983
The Structural Biology Knowledgebase: a portal to protein structures, sequences, functions, and methods. PMID:21472436
A bioinformatics workflow for variant peptide detection in shotgun proteomics. PMID:21389108
The expanded human disease network combining protein-protein interaction information. PMID:21386875
Somatic coding mutations in human induced pluripotent stem cells. PMID:21368825
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
Dr. PIAS: an integrative system for assessing the druggability of protein-protein interactions. PMID:21303559
Prediction of human disease-related gene clusters by clustering analysis. PMID:21278917
Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan. PMID:21221749
CNV-WebStore: online CNV analysis, storage and interpretation. PMID:21208430
Using bioinformatics to predict the functional impact of SNVs. PMID:21159622
FINDbase: a worldwide database for genetic variation allele frequencies updated. PMID:21113021
Prognostic transcriptional association networks: a new supervised approach based on regression trees. PMID:21098433
DrugBank 3.0: a comprehensive resource for 'omics' research on drugs. PMID:21059682
VnD: a structure-centric database of disease-related SNPs and drugs. PMID:21051351
ChemProt: a disease chemical biology database. PMID:20935044
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. PMID:20929868
Domain altering SNPs in the human proteome and their impact on signaling pathways. PMID:20886114
Mutated genes, pathways and processes in tumours. PMID:20847737
A systems biology approach to identify effective cocktail drugs. PMID:20840734
Sequencing and analysis of an Irish human genome. PMID:20822512
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PMID:20808887
Prediction of deleterious non-synonymous SNPs based on protein interaction network and hybrid properties. PMID:20689580
Varietas: a functional variation database portal. PMID:20671203
A quantitative approach to study indirect effects among disease proteins in the human protein interaction network. PMID:20670417
Tissue-specific target analysis of disease-associated microRNAs in human signaling pathways. PMID:20614023
The biological context of HIV-1 host interactions reveals subtle insights into a system hijack. PMID:20529270
Prioritization of disease microRNAs through a human phenome-microRNAome network. PMID:20522252
Revealing and avoiding bias in semantic similarity scores for protein pairs. PMID:20509916
PhenoHM: human-mouse comparative phenome-genome server. PMID:20507906
Maternal-zygotic epistasis and the evolution of genetic diseases. PMID:20467476
DynaMod: dynamic functional modularity analysis. PMID:20460468
Ohnologs in the human genome are dosage balanced and frequently associated with disease. PMID:20439718
Phenotype ontologies for mouse and man: bridging the semantic gap. PMID:20427557
Systems pharmacology of arrhythmias. PMID:20407125
An expanded Oct4 interaction network: implications for stem cell biology, development, and disease. PMID:20362542
Bayesian approach to transforming public gene expression repositories into disease diagnosis databases. PMID:20360561
Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility. PMID:20208995
The Homeodomain Resource: a comprehensive collection of sequence, structure, interaction, genomic and functional information on the homeodomain protein family. PMID:20157477
Extracting consistent knowledge from highly inconsistent cancer gene data sources. PMID:20137077
Integration of multiple data sources to prioritize candidate genes using discounted rating system. PMID:20122192
Detecting disease associated modules and prioritizing active genes based on high throughput data. PMID:20070902
CanProVar: a human cancer proteome variation database. PMID:20052754
Integrative approaches to the prediction of protein functions based on the feature selection. PMID:20043848
From protein sequences to 3D-structures and beyond: the example of the UniProt knowledgebase. PMID:20043185
Advances in translational bioinformatics: computational approaches for the hunting of disease genes. PMID:20007728
The biological coherence of human phenome databases. PMID:20004759
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System. PMID:19958500
MitoInteractome: mitochondrial protein interactome database, and its application in 'aging network' analysis. PMID:19958484
Linking human diseases to animal models using ontology-based phenotype annotation. PMID:19956802
SMPDB: The Small Molecule Pathway Database. PMID:19948758
Dynamism in gene expression across multiple studies. PMID:19920211
Edgetic perturbation models of human inherited disorders. PMID:19888216
Non-redundant patent sequence databases with value-added annotations at two levels. PMID:19884134
ParaHaplo: A program package for haplotype-based whole-genome association study using parallel computing. PMID:19845960
Structural imperatives impose diverse evolutionary constraints on helical membrane proteins. PMID:19815527
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. PMID:19800049
ACCF/AHA/ACP 2009 competence and training statement: a curriculum on prevention of cardiovascular disease: a report of the American College of Cardiology Foundation/American Heart Association/American College of Physicians Task Force on Competence and Training (Writing Committee to Develop a Competence and Training Statement on Prevention of Cardiovascular Disease): developed in collaboration with the American Academy of Neurology; American Association of Cardiovascular and Pulmonary Rehabilitation; American College of Preventive Medicine; American College of Sports Medicine; American Diabetes Association; American Society of Hypertension; Association of Black Cardiologists; Centers for Disease Control and Prevention; National Heart, Lung, and Blood Institute; National Lipid Association; and Preventive Cardiovascular Nurses Association. PMID:19778678
Discovering cancer genes by integrating network and functional properties. PMID:19765316
Correlating protein function and stability through the analysis of single amino acid substitutions. PMID:19758472
Automated seeding of specialised wiki knowledgebases with BioKb. PMID:19758431
Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network. PMID:19728866
OnEX: Exploring changes in life science ontologies. PMID:19678926
Building disease-specific drug-protein connectivity maps from molecular interaction networks and PubMed abstracts. PMID:19649302
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. PMID:19546169
Structural implication of splicing stochastics. PMID:19528068
The Cell Cycle Ontology: an application ontology for the representation and integrated analysis of the cell cycle process. PMID:19480664
Application of a new probabilistic model for mining implicit associated cancer genes from OMIM and medline. PMID:19458778
Databases and QSAR for cancer research. PMID:19458762
Public databases and software for the pathway analysis of cancer genomes. PMID:19455256
PCOPGene-Net: holistic characterisation of cellular states from microarray data based on continuous and non-continuous analysis of gene-expression relationships. PMID:19426548
Inferring novel disease indications for known drugs by semantically linking drug action and disease mechanism relationships. PMID:19426461
Mapping gene associations in human mitochondria using clinical disease phenotypes. PMID:19390613
SysPTM: a systematic resource for proteomic research on post-translational modifications. PMID:19366988
Planning the human variome project: the Spain report. PMID:19306394
From cancer genomes to cancer models: bridging the gaps. PMID:19305388
Computationally driven, quantitative experiments discover genes required for mitochondrial biogenesis. PMID:19300474
Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. PMID:19289044
TFCat: the curated catalog of mouse and human transcription factors. PMID:19284633
Disease candidate gene identification and prioritization using protein interaction networks. PMID:19245720
MitoMiner, an integrated database for the storage and analysis of mitochondrial proteomics data. PMID:19208617
The "etiome": identification and clustering of human disease etiological factors. PMID:19208189
Identifying hypothetical genetic influences on complex disease phenotypes. PMID:19208188
Next generation tools for the annotation of human SNPs. PMID:19181721
Variable locus length in the human genome leads to ascertainment bias in functional inference for non-coding elements. PMID:19168912
Quantifying dominance and deleterious effect on human disease genes. PMID:19139396
An evolutionary and structural characterization of mammalian protein complex organization. PMID:19108706
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes. PMID:19104045
An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases. PMID:19091018
Genotype-phenotype databases: challenges and solutions for the post-genomic era. PMID:19065136
GeneDistiller--distilling candidate genes from linkage intervals. PMID:19057649
SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. PMID:19036792
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PMID:18989397
SNPLogic: an interactive single nucleotide polymorphism selection, annotation, and prioritization system. PMID:18984625
Cataloging coding sequence variations in human genome databases. PMID:18974781
VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts. PMID:18953038
HMDB: a knowledgebase for the human metabolome. PMID:18953024
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. PMID:18950739
MODBASE, a database of annotated comparative protein structure models and associated resources. PMID:18948282
IUPHAR-DB: the IUPHAR database of G protein-coupled receptors and ion channels. PMID:18948278
Database resources of the National Center for Biotechnology Information. PMID:18940862
Identification of mitochondrial disease genes through integrative analysis of multiple datasets. PMID:18930150
Bioinformatics analysis of metastasis-related proteins in hepatocellular carcinoma. PMID:18855979
RAPID: Resource of Asian Primary Immunodeficiency Diseases. PMID:18842635
McKusick's Online Mendelian Inheritance in Man (OMIM). PMID:18842627
PharmGKB: an integrated resource of pharmacogenomic data and knowledge. PMID:18819074
ProteoLens: a visual analytic tool for multi-scale database-driven biological network data mining. PMID:18793469
Short tandem repeats in human exons: a target for disease mutations. PMID:18789129
MitoP2: an integrative tool for the analysis of the mitochondrial proteome. PMID:18780189
The Degradome database: mammalian proteases and diseases of proteolysis. PMID:18776217
Translational integrity and continuity: personalized biomedical data integration. PMID:18760382
Drug-therapy networks and the prediction of novel drug targets. PMID:18710588
Genetic variation in an individual human exome. PMID:18704161
Reduced purifying selection prevails over positive selection in human copy number variant evolution. PMID:18687881
An en masse phenotype and function prediction system for Mus musculus. PMID:18613952
Inferring mouse gene functions from genomic-scale data using a combined functional network/classification strategy. PMID:18613949
Predicting gene function in a hierarchical context with an ensemble of classifiers. PMID:18613947
A critical assessment of Mus musculus gene function prediction using integrated genomic evidence. PMID:18613946
The implications of human metabolic network topology for disease comorbidity. PMID:18599447
Congenital disease SNPs target lineage specific structural elements in protein kinases. PMID:18579784
Isoform discovery by targeted cloning, 'deep-well' pooling and parallel sequencing. PMID:18552854
E3Miner: a text mining tool for ubiquitin-protein ligases. PMID:18483079
Mapping proteins to disease terminologies: from UniProt to MeSH. PMID:18460185
Clinical uses of microarrays in cancer research. PMID:18453086
The annotation of both human and mouse kinomes in UniProtKB/Swiss-Prot: one small step in manual annotation, one giant leap for full comprehension of genomes. PMID:18436524
Conserved co-expression for candidate disease gene prioritization. PMID:18433471
Protein networks in disease. PMID:18381899
Systematic characterization of the murine mitochondrial proteome using functionally validated cardiac mitochondria. PMID:18348319
Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta. PMID:18294402
A perspective for biomedical data integration: design of databases for flow cytometry. PMID:18275602
IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts. PMID:18232731
Protein interactions in human genetic diseases. PMID:18199329
The Mouse Genome Database (MGD): mouse biology and model systems. PMID:18158299
Recommendations for locus-specific databases and their curation. PMID:18157828
Comparative genomics search for losses of long-established genes on the human lineage. PMID:18085818
Database resources of the National Center for Biotechnology Information. PMID:18045790
The UniTrap resource: tools for the biologist enabling optimized use of gene trap clones. PMID:17942430
PAZAR: a framework for collection and dissemination of cis-regulatory sequence annotation. PMID:17916232
Linking microarray reporters with protein functions. PMID:17897448
The Edinburgh human metabolic network reconstruction and its functional analysis. PMID:17882155
InSite: a computational method for identifying protein-protein interaction binding sites on a proteome-wide scale. PMID:17868464
An integrative in silico approach for discovering candidates for drug-targetable protein-protein interactions in interactome data. PMID:17705877
Identification of novel proteins affected by rotenone in mitochondria of dopaminergic cells. PMID:17705834
Online genetic databases informing human genome epidemiology. PMID:17610726
The ENCODEdb portal: simplified access to ENCODE Consortium data. PMID:17568011
A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells. PMID:17540781
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. PMID:17514509
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction. PMID:17513528
The human disease network. PMID:17502601
Reconstruction of human protein interolog network using evolutionary conserved network. PMID:17493278
Geriatric syndromes: clinical, research, and policy implications of a core geriatric concept. PMID:17493201
CARGO: a web portal to integrate customized biological information. PMID:17483515
Mendelian Inheritance in Man and its online version, OMIM. PMID:17357067
Assessing human germ-cell mutagenesis in the Postgenome Era: a celebration of the legacy of William Lawson (Bill) Russell. PMID:17295306
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. PMID:17293536
N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology. PMID:17275978
Global reconstruction of the human metabolic network based on genomic and bibliomic data. PMID:17267599
A Web-based platform to find out relations between OMIC data and clinical features. PMID:17238569
DiscoverySpace: an interactive data analysis application. PMID:17210078
Computational approaches to phenotyping: high-throughput phenomics. PMID:17202287
HMDB: the Human Metabolome Database. PMID:17202168
GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs. PMID:17178752
Database resources of the National Center for Biotechnology Information. PMID:17170002
The Rat Genome Database, update 2007--easing the path from disease to data and back again. PMID:17151068
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. PMID:17135191
The mouse Gene Expression Database (GXD): 2007 update. PMID:17130151
PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways. PMID:17130144
Patome: a database server for biological sequence annotation and analysis in issued patents and published patent applications. PMID:17085479
PhenomicDB: a new cross-species genotype/phenotype resource. PMID:16982638
GeneTests: an online genetic information resource for health care providers. PMID:16888670
Challenges and strategies of the Genetics Home Reference. PMID:16888669
STK11 status and intussusception risk in Peutz-Jeghers syndrome. PMID:16882735
New Onto-Tools: Promoter-Express, nsSNPCounter and Onto-Translate. PMID:16845086
Systems biology of SNPs. PMID:16820779
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. PMID:16685651
Fold designability, distribution, and disease. PMID:16680196
Predicting disease genes using protein-protein interactions. PMID:16611749
SNPs3D: candidate gene and SNP selection for association studies. PMID:16551372
Exploring supervised and unsupervised methods to detect topics in biomedical text. PMID:16539745
Further understanding human disease genes by comparing with housekeeping genes and other genes. PMID:16504025
Comparison of human (and other) genome browsers. PMID:16460652
Djinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and exploration. PMID:16426464
HPtaa database-potential target genes for clinical diagnosis and immunotherapy of human carcinoma. PMID:16381942
CTGA: the database for genetic disorders in Arab populations. PMID:16381941
OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI. PMID:16381939
QTL MatchMaker: a multi-species quantitative trait loci (QTL) database and query system for annotation of genes and QTL. PMID:16381937
TreeFam: a curated database of phylogenetic trees of animal gene families. PMID:16381935
TRANSPATH: an information resource for storing and visualizing signaling pathways and their pathological aberrations. PMID:16381929
pSTIING: a 'systems' approach towards integrating signalling pathways, interaction and transcriptional regulatory networks in inflammation and cancer. PMID:16381926
Human protein reference database--2006 update. PMID:16381900
LOCATE: a mouse protein subcellular localization database. PMID:16381849
ChimerDB--a knowledgebase for fusion sequences. PMID:16381848
Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists. PMID:16351744
PSE: a tool for browsing a large amount of MEDLINE/PubMed abstracts with gene names and common words as the keywords. PMID:16336692
Tandem repeat copy-number variation in protein-coding regions of human genes. PMID:16086851
The impact of the NIH public access policy on literature informatics: What role can the neuroinformaticists play? PMID:15988039
Recent additions and improvements to the Onto-Tools. PMID:15980579
GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists. PMID:15980570
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders PubMed citations: 708.

708 articles citing: OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Mechanism of Danhong Injection in the Treatment of Arrhythmia Based on Network Pharmacology, Molecular Docking, and In Vitro Experiments. PMID:35915792
Natural history of Myhre syndrome. PMID:35907855
X-CAP improves pathogenicity prediction of stopgain variants. PMID:35906703
Network Pharmacology and Molecular Docking on the Molecular Mechanism of Jiawei-Huang Lian-Gan Jiang Decoction in the Treatment of Colorectal Adenomas. PMID:35899228
Mechanisms of Action of Semen Ziziphi spinosae in the Treatment of Tourette Syndrome. PMID:35875687
Network Pharmacology-Based Strategy to Investigate the Mechanisms of Cibotium barometz in Treating Osteoarthritis. PMID:35873632
Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine. PMID:35873469
Mechanism of Action of Yin Nourishing and Heat Clearing Prescription in Treating Cough Variant Asthma Based on Network Pharmacology and Molecular Docking Verification. PMID:35866040
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family. PMID:35864542
Taohong Siwu Decoction exerts anticancer effects on breast cancer via regulating MYC, BIRC5, EGF and PIK3R1 revealed by HTS2 technology. PMID:35860405
Network Pharmacology-Based Strategy to Reveal the Mechanism of Cassiae Semen against Cataracts. PMID:35860180
Network pharmacology-based analysis of the effects of puerarin on sarcopenia. PMID:35845507
Current landscape of gene-editing technology in biomedicine: Applications, advantages, challenges, and perspectives. PMID:35845351
The heterogeneous pharmacological medical biochemical network PharMeBINet. PMID:35821017
HumanMine: advanced data searching, analysis and cross-species comparison. PMID:35820040
Qin Huang formula enhances the effect of Adriamycin in B-cell lymphoma via increasing tumor infiltrating lymphocytes by targeting toll-like receptor signaling pathway. PMID:35818037
Contexts and contradictions: a roadmap for computational drug repurposing with knowledge inference. PMID:35817308
A Mechanistic Exploratory Study on the Therapeutic Efficacy of Astragaloside IV Against Diabetic Retinopathy Revealed by Network Pharmacology. PMID:35814228
Network pharmacology and bioinformatics analysis identified essential genes of Jingulian in the treatment of rheumatoid arthritis and COVID-19. PMID:35813340
Genetic variation associated with condensate dysregulation in disease. PMID:35809564
Prioritizing Suggestive Candidate Genes in Migraine: An Opinion. PMID:35785356
Pharmacological analysis of Empagliflozin: Acting through the CaMKII pathway in type 2 diabetes and acute cardiovascular events. PMID:35767566
Modeling Kaempferol as a Potential Pharmacological Agent for COVID-19/PF Co-Occurrence Based on Bioinformatics and System Pharmacological Tools. PMID:35754492
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches. PMID:35743235
TangShenWeiNing Formula Prevents Diabetic Nephropathy by Protecting Podocytes Through the SIRT1/HIF-1α Pathway. PMID:35721758
Integrating Network Pharmacology and Experimental Validation to Explore the Key Mechanism of Gubitong Recipe in the Treatment of Osteoarthritis. PMID:35720033
Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea. PMID:35706451
A Genomic Information Management System for Maintaining Healthy Genomic States and Application of Genomic Big Data in Clinical Research. PMID:35682641
[Huangqi Sijunzi decoction for treating cancer-related fatigue in breast cancer patients: a randomized trial and network pharmacology study]. PMID:35673907
Investigation of the mechanism of Shen Qi Wan prescription in the treatment of T2DM via network pharmacology and molecular docking. PMID:35673584
Bioarchaeological evidence of one of the earliest Islamic burials in the Levant. PMID:35672445
Network pharmacology and experimental verification based research into the effect and mechanism of Aucklandiae Radix-Amomi Fructus against gastric cancer. PMID:35672352
Naoluo Xintong Decoction in the Treatment of Ischemic Stroke: A Network Analysis of the Mechanism of Action. PMID:35668929
Humanized yeast to model human biology, disease and evolution. PMID:35661208
Medication Rules in Herbal Medicine for Mild Cognitive Impairment: A Network Pharmacology and Data Mining Study. PMID:35646138
The Brain Research Hotspot Database (BRHD): A Panoramic Database of the Latest Hotspots in Brain Research. PMID:35625024
Integrated Network Pharmacology and Clinical Study to Reveal the Effects and Mechanisms of Bushen Huoxue Huatan Decoction on Polycystic Ovary Syndrome. PMID:35600955
Network Pharmacology and Absolute Bacterial Quantification-Combined Approach to Explore the Mechanism of Tianqi Pingchan Granule Against 6-OHDA-Induced Parkinson's Disease in Rats. PMID:35600818
Exploration of the System-Level Mechanisms of the Herbal Drug FDY003 for Pancreatic Cancer Treatment: A Network Pharmacological Investigation. PMID:35591866
The potential effects and mechanisms of hispidulin in the treatment of diabetic retinopathy based on network pharmacology. PMID:35590353
Mechanism of Peitu Shengjin Formula Shenlingbaizhu Powder in Treating Bronchial Asthma and Allergic Colitis through Different Diseases with Simultaneous Treatment Based on Network Pharmacology and Molecular Docking. PMID:35586697
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor. PMID:35585273
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. PMID:35584218
Exploring Molecular Mechanisms of Aloe barbadmsis Miller on Diphenoxylate-Induced Constipation in Mice. PMID:35571728
Evaluation of tea (Camellia sinensis L.) phytochemicals as multi-disease modulators, a multidimensional in silico strategy with the combinations of network pharmacology, pharmacophore analysis, statistics and molecular docking. PMID:35536529
Utilizing Network Pharmacology and Molecular Docking Integrated Surface Plasmon Resonance Technology to Investigate the Potential Targets and Mechanisms of Tripterygium wilfordii against Pulmonary Artery Hypertension. PMID:35535154
Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes. PMID:35512711
Rules of Chinese Herbal Intervention of Radiation Pneumonia Based on Network Pharmacology and Data Mining. PMID:35509624
The Mechanism of Dendrobium officinale as a Treatment for Hyperlipidemia Based on Network Pharmacology and Experimental Validation. PMID:35502176
Systematic Elaboration of the Pharmacological Targets and Potential Mechanisms of ZhiKe GanCao Decoction for Preventing and Delaying Intervertebral Disc Degeneration. PMID:35497916
Wuzi Yanzong pill attenuates MPTP-induced Parkinson's Disease via PI3K/Akt signaling pathway. PMID:35488941
Icariin: A Potential Molecule for Treatment of Knee Osteoarthritis. PMID:35479319
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. PMID:35477703
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes. PMID:35456399
Darling: A Web Application for Detecting Disease-Related Biomedical Entity Associations with Literature Mining. PMID:35454109
Identifying the Mechanism of Polygoni Cuspidati Rhizoma et Radix in Treating Acute Liver Failure Based on Network Pharmacology and Molecular Docking. PMID:35432526
Potential therapeutic targets and molecular details of anthocyan-treated inflammatory bowel disease: a systematic bioinformatics analysis of network pharmacology. PMID:35423341
PPVED: A machine learning tool for predicting the effect of single amino acid substitution on protein function in plants. PMID:35398963
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. PMID:35388186
Molecular Mechanism Underlying Effects of Wumeiwan on Steroid-Dependent Asthma: A Network Pharmacology, Molecular Docking, and Experimental Verification Study. PMID:35386850
Disrupted long-range gene regulations elucidate shared tissue-specific mechanisms of neuropsychiatric disorders. PMID:35379909
Anticancer Activity of Erianin: Cancer-Specific Target Prediction Based on Network Pharmacology. PMID:35372513
The Mechanism of Ginseng and Astragalus Decoction in the Treatment of Malignant Pleural Effusion Based on Network Pharmacology and Molecular Docking Technology. PMID:35341150
Uncovering the Pharmacological Mechanisms of Gexia-Zhuyu Formula (GXZY) in Treating Liver Cirrhosis by an Integrative Pharmacology Strategy. PMID:35330838
Myopia Genetics and Heredity. PMID:35327754
Functional Enrichment Analysis of Regulatory Elements. PMID:35327392
Comprehensive Metabolomics and Network Pharmacology to Explore the Mechanism of 5-Hydroxymethyl Furfural in the Treatment of Blood Deficiency Syndrome. PMID:35310893
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders. PMID:35304488
Protecting effect of emodin in experimental autoimmune encephalomyelitis mice by inhibiting microglia activation and inflammation via Myd88/PI3K/Akt/NF-κB signalling pathway. PMID:35287559
Revealing Calcium Signaling Pathway as Novel Mechanism of Danhong Injection for Treating Acute Myocardial Infarction by Systems Pharmacology and Experiment Validation. PMID:35281886
Network pharmacology and molecular docking analysis reveals the mechanism of asiaticoside on COVID-19. PMID:35280425
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes. PMID:35271803
Identification of the potential mechanism of Radix pueraria in colon cancer based on network pharmacology. PMID:35260672
DBHR: a collection of databases relevant to human research. PMID:35251694
[Identification of traditional Chinese drugs containing active ingredients for treating myocardial infarction and analysis of their therapeutic mechanisms by network pharmacology and molecular docking]. PMID:35249866
Network pharmacology analysis and experimental study strategy reveals the potential mechanism of puerarin against rotavirus. PMID:35242859
Network pharmacology-based predictions of active components and pharmacological mechanisms of Artemisia annua L. for the treatment of the novel Corona virus disease 2019 (COVID-19). PMID:35241045
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. PMID:35240055
An Integrated Pharmacology-Based Strategy to Investigate the Potential Mechanism of Xiebai San in Treating Pediatric Pneumonia. PMID:35237157
Exploring the Potential Antidepressant Mechanisms of Pinellia by Using the Network Pharmacology and Molecular Docking. PMID:35230627
Overcoming Drug Resistance in Advanced Prostate Cancer by Drug Repurposing. PMID:35225948
Inferring Retinal Degeneration-Related Genes Based on Xgboost. PMID:35223997
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. PMID:35220969
Syndromic male subfertility: A network view of genome-phenome associations. PMID:35218153
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis. PMID:35205407
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. PMID:35192731
Network Pharmacology Prediction and Molecular Docking-Based Strategy to Discover the Potential Pharmacological Mechanism of Wen-Yu-Jin against Pulmonary Fibrosis in a Mouse Model. PMID:35186103
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation. PMID:35180879
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. PMID:35178824
Uncovering the Potential Mechanisms of Coptis chinensis Franch. for Serious Mental Illness by Network Pharmacology and Pharmacology-Based Analysis. PMID:35173416
The impact of GeneMatcher on international data sharing and collaboration. PMID:35170833
Zebrafish information network, the knowledgebase for Danio rerio research. PMID:35166825
Network Pharmacology Analysis on the Mechanism of Huangqi Sijunzi Decoction in Treating Cancer-Related Fatigue. PMID:35154614
Herbal Formula Modified Bu-Shen-Huo-Xue Decoction Attenuates Intervertebral Disc Degeneration via Regulating Inflammation and Oxidative Stress. PMID:35154344
Integration of Network Pharmacology and Experimental Validation to Explore the Pharmacological Mechanisms of Zhuanggu Busui Formula Against Osteoporosis. PMID:35154014
Multimodal reasoning based on knowledge graph embedding for specific diseases. PMID:35150235
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. PMID:35146449
Network Pharmacology and Molecular Docking Analysis on Pharmacological Mechanisms of Astragalus membranaceus in the Treatment of Gastric Ulcer. PMID:35140802
Elucidating the material basis and potential mechanisms of Ershiwuwei Lvxue Pill acting on rheumatoid arthritis by UPLC-Q-TOF/MS and network pharmacology. PMID:35130279
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. PMID:35120630
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. PMID:35115730
Disentangling glial diversity in peripheral nerves at single-nuclei resolution. PMID:35115729
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. PMID:35108381
Systematic Pharmacology-Based Strategy to Explore the Molecular Network Mechanism of Modified Taohong Siwu Decoction in the Treatment of Premature Ovarian Failure. PMID:35096106
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. PMID:35087072
Population-Based Penetrance of Deleterious Clinical Variants. PMID:35076666
A Practical Strategy for Exploring the Pharmacological Mechanism of Luteolin Against COVID-19/Asthma Comorbidity: Findings of System Pharmacology and Bioinformatics Analysis. PMID:35069542
Tissue-specific multi-omics analysis of atrial fibrillation. PMID:35064145
Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal. PMID:35053637
The QChip1 knowledgebase and microarray for precision medicine in Qatar. PMID:35046417
Identification of cardiomyopathy-related core genes through human metabolic networks and expression data. PMID:35016605
Network Pharmacology and Inflammatory Microenvironment Strategy Approach to Finding the Potential Target of Siraitia grosvenorii (Luo Han Guo) for Glioblastoma. PMID:34987553
Network Pharmacology-Based Investigation and Experimental Exploration of the Antiapoptotic Mechanism of Colchicine on Myocardial Ischemia Reperfusion Injury. PMID:34975499
Network Pharmacology Study on Molecular Mechanisms of Zhishi Xiebai Guizhi Decoction in the Treatment of Coronary Heart Disease. PMID:34966435
Total Flavonoids of Chuju Decrease Oxidative Stress and Cell Apoptosis in Ischemic Stroke Rats: Network and Experimental Analyses. PMID:34955724
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study. PMID:34946904
A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease. PMID:34906219
Network Pharmacology and Experimental Validation to Reveal the Pharmacological Mechanisms of Liuwei Dihuang Decoction Against Intervertebral Disc Degeneration. PMID:34880601
Systems biology and machine learning approaches identify drug targets in diabetic nephropathy. PMID:34873190
Computational Network Pharmacology-Based Strategy to Capture Key Functional Components and Decode the Mechanism of Chai-Hu-Shu-Gan-San in Treating Depression. PMID:34867413
Antidepressant Mechanism of Traditional Chinese Medicine Formula Xiaoyaosan in CUMS-Induced Depressed Mouse Model via RIPK1-RIPK3-MLKL Mediated Necroptosis Based on Network Pharmacology Analysis. PMID:34867405
Uncovering Bupi Yishen Formula Pharmacological Mechanisms Against Chronic Kidney Disease by Network Pharmacology and Experimental Validation. PMID:34867380
The possible mechanism of Hippophae fructus oil applied in tympanic membrane repair identified based on network pharmacology and molecular docking. PMID:34859918
A Novel Mutation of the KLK6 Gene in a Family With Knee Osteoarthritis. PMID:34858488
Meningitis Caused by the Live Varicella Vaccine Virus: Metagenomic Next Generation Sequencing, Immunology Exome Sequencing and Cytokine Multiplex Profiling. PMID:34835092
Facilitating Antiviral Drug Discovery Using Genetic and Evolutionary Knowledge. PMID:34834924
Comparable Number of Genes Having Experienced Positive Selection among Great Ape Species. PMID:34827995
Mechanism of quercetin therapeutic targets for Alzheimer disease and type 2 diabetes mellitus. PMID:34824300
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. PMID:34816580
Pharmacological Mechanism of Danggui-Sini Formula for Intervertebral Disc Degeneration: A Network Pharmacology Study. PMID:34805401
Mechanistic insights into the renoprotective role of curcumin in cisplatin-induced acute kidney injury: network pharmacology analysis and experimental validation. PMID:34802380
Genetic architecture of orbital telorism. PMID:34791242
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care. PMID:34776723
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. PMID:34746695
Study on the Mechanism of Liuwei Dihuang Pills in Treating Parkinson's Disease Based on Network Pharmacology. PMID:34746302
The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research. PMID:34741192
Gene4HL: An Integrated Genetic Database for Hearing Loss. PMID:34733322
RNAInter v4.0: RNA interactome repository with redefined confidence scoring system and improved accessibility. PMID:34718726
Knowledge-based approaches to drug discovery for rare diseases. PMID:34718207
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. PMID:34711829
Effects and Components of Herb Pair Huanglian-Banxia on Diabetic Gastroparesis by Network Pharmacology. PMID:34708128
Elucidate multidimensionality of type 1 diabetes mellitus heterogeneity by multifaceted information. PMID:34697343
Formins in Human Disease. PMID:34685534
Investigation of the Active Ingredients and Mechanism of Hudi Enteric-Coated Capsules in DSS-Induced Ulcerative Colitis Mice Based on Network Pharmacology and Experimental Verification. PMID:34675488
Huanglianjiedu Decoction as an effective treatment for oral squamous cell carcinoma based on network pharmacology and experimental validation. PMID:34674717
WTD Attenuating Rheumatoid Arthritis via Suppressing Angiogenesis and Modulating the PI3K/AKT/mTOR/HIF-1α Pathway. PMID:34646130
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders. PMID:34638716
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. PMID:34605855
The Key Ingredient Acacetin in Weishu Decoction Alleviates Gastrointestinal Motility Disorder Based on Network Pharmacology Analysis. PMID:34594156
COVID19db: a comprehensive database platform to discover potential drugs and targets of COVID-19 at whole transcriptomic scale. PMID:34554255
Identifying the dynamic gene regulatory network during latent HIV-1 reactivation using high-dimensional ordinary differential equations. PMID:34531927
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. PMID:34529933
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. PMID:34514437
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. PMID:34504351
Exploring the Biological Mechanism of Huang Yam in Treating Tumors and Preventing Antitumor Drug-Induced Cardiotoxicity Using Network Pharmacology and Molecular Docking Technology. PMID:34484411
Candidate gene prioritization for chronic obstructive pulmonary disease using expression information in protein-protein interaction networks. PMID:34481483
Repurposing new drug candidates and identifying crucial molecules underlying PCOS Pathogenesis Based On Bioinformatics Analysis. PMID:34480296
Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. PMID:34465876
Exploring targets and signaling pathways of paeonol involved in relieving inflammation based on modern technology. PMID:34463943
Mechanism Prediction of Astragalus membranaceus against Cisplatin-Induced Kidney Damage by Network Pharmacology and Molecular Docking. PMID:34457031
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. PMID:34450027
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
Identification of Potential Bioactive Ingredients and Mechanisms of the Guanxin Suhe Pill on Angina Pectoris by Integrating Network Pharmacology and Molecular Docking. PMID:34422068
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. PMID:34407837
nf-LO: A Scalable, Containerized Workflow for Genome-to-Genome Lift Over. PMID:34383887
Investigating the Mechanism of Scutellariae barbata Herba in the Treatment of Colorectal Cancer by Network Pharmacology and Molecular Docking. PMID:34381520
Rare variant contribution to human disease in 281,104 UK Biobank exomes. PMID:34375979
Formononetin protects against ox-LDL-induced endothelial dysfunction by activating PPAR-γ signaling based on network pharmacology and experimental validation. PMID:34369277
Male Infertility Knowledgebase: decoding the genetic and disease landscape. PMID:34363073
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. PMID:34363016
Exploring the Mechanism of Scutellaria baicalensis Georgi Efficacy against Oral Squamous Cell Carcinoma Based on Network Pharmacology and Molecular Docking Analysis. PMID:34335829
Retinoblastoma genetics screening and clinical management. PMID:34294096
RNA Sequencing of CD4+ T Cells in Relapsing-Remitting Multiple Sclerosis Patients at Relapse: Deciphering the Involvement of Novel genes and Pathways. PMID:34286457
Clinical Exome Reanalysis: Current Practice and Beyond. PMID:34283395
Network Pharmacology-Based Dissection of the Active Ingredients and Protective Mechanism of the Salvia Miltiorrhiza and Panax Notoginseng Herb Pair against Insulin Resistance. PMID:34278114
Effect of dapagliflozin on diabetic patients with cardiovascular disease via MAPK signalling pathway. PMID:34258872
Disruptive Selection of Human Immunostimulatory and Immunosuppressive Genes Both Provokes and Prevents Rheumatoid Arthritis, Respectively, as a Self-Domestication Syndrome. PMID:34239535
Joint disease-specificity at the regulatory base-pair level. PMID:34230488
Metabolomics and Network Pharmacology-Based Investigation into the Mechanisms Underlying the Therapeutic Effect of a New Chinese Traditional Medicine (Cui Nai Ling) on Bromocriptine-Induced Hypogalactia. PMID:34221092
Coregulation Analysis of Mechanistic Biomarkers in Autosomal Dominant Polycystic Kidney Disease. PMID:34206927
Summarizing the Effective Herbs for the Treatment of Hypertensive Nephropathy by Complex Network and Machine Learning. PMID:34194519
Mechanism of protective effect of xuan-bai-cheng-qi decoction on LPS-induced acute lung injury based on an integrated network pharmacology and RNA-sequencing approach. PMID:34183011
Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis. PMID:34174938
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus. PMID:34169650
Precision omics data integration and analysis with interoperable ontologies and their application for COVID-19 research. PMID:34159360
DGLinker: flexible knowledge-graph prediction of disease-gene associations. PMID:34125897
Target identification among known drugs by deep learning from heterogeneous networks. PMID:34123272
G-Protein-Coupled Receptors and Ischemic Stroke: a Focus on Molecular Function and Therapeutic Potential. PMID:34120294
Assessment of a complete and classified platelet proteome from genome-wide transcripts of human platelets and megakaryocytes covering platelet functions. PMID:34117303
Investigating the active compounds and mechanism of HuaShi XuanFei formula for prevention and treatment of COVID-19 based on network pharmacology and molecular docking analysis. PMID:34105049
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. PMID:34092239
Mechnetor: a web server for exploring protein mechanism and the functional context of genetic variants. PMID:34076240
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. PMID:34075210
Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations. PMID:34043790
Mapping OMIM Disease-Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes. PMID:34026820
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. PMID:34019647
Investigation of the Mechanism of Traditional Chinese Medicines in Angiogenesis through Network Pharmacology and Data Mining. PMID:34007289
A Combined Phytochemistry and Network Pharmacology Approach to Reveal Potential Anti-NSCLC Effective Substances and Mechanisms in Marsdenia tenacissima (Roxb.) Moon (Stem). PMID:33994999
Prediction of Synergistic Drug Combinations for Prostate Cancer by Transcriptomic and Network Characteristics. PMID:33986671
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. PMID:33964184
Network pharmacology integrated with experimental validation revealed the anti-inflammatory effects of Andrographis paniculata. PMID:33963245
The VRNetzer platform enables interactive network analysis in Virtual Reality. PMID:33893283
Network-Based Analysis of Fatal Comorbidities of COVID-19 and Potential Therapeutics. PMID:33891554
Comparative transcriptomics and network pharmacology analysis to identify the potential mechanism of celastrol against osteoarthritis. PMID:33870466
The Use of Traditional Chinese Medicine in Relieving EGFR-TKI-Associated Diarrhea Based on Network Pharmacology and Data Mining. PMID:33868436
Traditional Chinese Formula Xiaoyaosan Alleviates Depressive-Like Behavior in CUMS Mice by Regulating PEBP1-GPX4-Mediated Ferroptosis in the Hippocampus. PMID:33854318
Whole-Transcriptome RNA Sequencing Reveals Significant Differentially Expressed mRNAs, miRNAs, and lncRNAs and Related Regulating Biological Pathways in the Peripheral Blood of COVID-19 Patients. PMID:33833618
Chlorogenic Acid Inhibits Human Glioma U373 Cell Progression via Regulating the SRC/MAPKs Signal Pathway: Based on Network Pharmacology Analysis. PMID:33833498
De novo Prediction of Moonlighting Proteins Using Multimodal Deep Ensemble Learning. PMID:33828582
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
Reducing Sanger confirmation testing through false positive prediction algorithms. PMID:33767343
Whole Genome Interpretation for a Family of Five. PMID:33763108
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. PMID:33749989
UbiNet 2.0: a verified, classified, annotated and updated database of E3 ubiquitin ligase-substrate interactions. PMID:33693667
Network pharmacology-based study to explore the mechanism of the Yiqi Gubiao pill in lung cancer treatment. PMID:33692853
Disturbance of Mitochondrial Dynamics and Mitochondrial Therapies in Atherosclerosis. PMID:33672784
DbStRiPs: Database of structural repeats in proteins. PMID:33641184
Mechanism of Modified Danggui Sini Decoction for Knee Osteoarthritis Based on Network Pharmacology and Molecular Docking. PMID:33628311
Uncovering the Anti-Lung-Cancer Mechanisms of the Herbal Drug FDY2004 by Network Pharmacology. PMID:33628308
A Network Pharmacology Study on the Molecular Mechanisms of FDY003 for Breast Cancer Treatment. PMID:33628298
Linking clinotypes to phenotypes and genotypes from laboratory test results in comprehensive physical exams. PMID:33627109
The similarity of inherited diseases (I): clinical similarity within the phenotypic series. PMID:33622316
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. PMID:33547280
ADDRESS: A Database of Disease-associated Human Variants Incorporating Protein Structure and Folding Stabilities. PMID:33539887
Manganese exposure in juvenile C57BL/6 mice increases glial inflammatory responses in the substantia nigra following infection with H1N1 influenza virus. PMID:33493177
Study of the active ingredients and mechanism of Sparganii rhizoma in gastric cancer based on HPLC-Q-TOF-MS/MS and network pharmacology. PMID:33479376
Comprehensive computational target fishing approach to identify Xanthorrhizol putative targets. PMID:33452398
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. PMID:33432820
Identification of the active substances and mechanisms of ginger for the treatment of colon cancer based on network pharmacology and molecular docking. PMID:33430939
The case for open science: rare diseases. PMID:33426479
The Shuganhuazheng Formula in Triple-Negative Breast Cancer: A Study Based on Network Pharmacology and In Vivo Experiments. PMID:33414839
Personizing the prediction of future susceptibility to a specific disease. PMID:33406077
Meta-Analysis of Differentially Expressed Genes in the Substantia Nigra in Parkinson's Disease Supports Phenotype-Specific Transcriptome Changes. PMID:33390883
Unraveling the Molecular Mechanisms of Fructus Anisi Stellati as a Remedy for Infantile Colic by Network Pharmacology. PMID:33381218
Microenvironment Remodeling and Subsequent Clinical Implications in Diffuse Large B-Cell Histologic Variant of Richter Syndrome. PMID:33381116
The Underlying Mechanism of Paeonia lactiflora Pall. in Parkinson's Disease Based on a Network Pharmacology Approach. PMID:33381034
Community Approaches for Integrating Environmental Exposures into Human Models of Disease. PMID:33369481
Rare and de novo coding variants in chromodomain genes in Chiari I malformation. PMID:33352116
An Investigation of the Molecular Mechanisms Underlying the Analgesic Effect of Jakyak-Gamcho Decoction: A Network Pharmacology Study. PMID:33343676
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study. PMID:33333793
Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires. PMID:33329738
A flexible computational pipeline for research analyses of unsolved clinical exome cases. PMID:33303739
Study on Medication Rules of Traditional Chinese Medicine against Antineoplastic Drug-Induced Cardiotoxicity Based on Network Pharmacology and Data Mining. PMID:33281914
MoonProt 3.0: an update of the moonlighting proteins database. PMID:33245761
A molecular cell atlas of the human lung from single-cell RNA sequencing. PMID:33208946
A Network Pharmacology to Explore the Mechanism of Astragalus Membranaceus in the Treatment of Diabetic Retinopathy. PMID:33204295
OrthoDB in 2020: evolutionary and functional annotations of orthologs. PMID:33196836
A Collection of Benchmark Data Sets for Knowledge Graph-based Similarity in the Biomedical Domain. PMID:33181823
Pathway information extracted from 25 years of pathway figures. PMID:33168034
Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes. PMID:33150273
Network pharmacology and molecular docking analyses on Lianhua Qingwen capsule indicate Akt1 is a potential target to treat and prevent COVID-19. PMID:33140889
Network Pharmacology-Based Study on the Mechanism of Pinellia ternata in Asthma Treatment. PMID:33133221
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. PMID:33076341
Protein-protein and protein-nucleic acid binding residues important for common and rare sequence variants in human. PMID:33050876
inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing. PMID:33029071
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. PMID:33023636
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. PMID:33001864
Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases. PMID:32988995
The similarity of inherited diseases (II): clinical and biological similarity between the phenotypic series. PMID:32972400
Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study. PMID:32938448
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. PMID:32928283
A Quantitative Proteome Map of the Human Body. PMID:32916130
Regulation of the mitochondrial permeability transition pore and its effects on aging. PMID:32904375
Development of Multiscale Transcriptional Regulatory Network in Esophageal Cancer Based on Integrated Analysis. PMID:32851080
Myosin XVI in the Nervous System. PMID:32824179
A guide to plasma membrane solute carrier proteins. PMID:32810346
Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report. PMID:32807111
Analyzing Active Constituents and Optimal Steaming Conditions Related to the Hematopoietic Effect of Steamed Panax notoginseng by Network Pharmacology Coupled with Response Surface Methodology. PMID:32775450
Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine. PMID:32774791
Alternative Applications of Genotyping Array Data Using Multivariant Methods. PMID:32773169
A Novel Network Pharmacology Strategy to Decode Metabolic Biomarkers and Targets Interactions for Depression. PMID:32760300
The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and Chocó, Colombia. PMID:32681795
Meta-Analysis of the Alzheimer's Disease Human Brain Transcriptome and Functional Dissection in Mouse Models. PMID:32668255
Integrative pharmacological mechanism of vitamin C combined with glycyrrhizic acid against COVID-19: findings of bioinformatics analyses. PMID:32662814
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. PMID:32659782
UFO: A tool for unifying biomedical ontology-based semantic similarity calculation, enrichment analysis and visualization. PMID:32645039
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes. PMID:32637154
Constructing knowledge graphs and their biomedical applications. PMID:32637040
A Census and Categorization Method of Epitranscriptomic Marks. PMID:32630140
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. PMID:32591635
Quantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease. PMID:32591566
pyMeSHSim: an integrative python package for biomedical named entity recognition, normalization, and comparison of MeSH terms. PMID:32552728
A comprehensive map of disease networks and molecular drug discoveries for glaucoma. PMID:32546683
Relieving Sore Throat Formula Exerts a Therapeutic Effect on Pharyngitis through Immunoregulation and NF-κB Pathway. PMID:32508523
Human gene and disease associations for clinical-genomics and precision medicine research. PMID:32508008
Assessment of the Retina of Plp-α-Syn Mice as a Model for Studying Synuclein-Dependent Diseases. PMID:32503050
Resveratrol: Multi-Targets Mechanism on Neurodegenerative Diseases Based on Network Pharmacology. PMID:32477148
Network Pharmacology to Uncover the Molecular Mechanisms of Action of LeiGongTeng for the Treatment of Nasopharyngeal Carcinoma. PMID:32448862
PathWalks: identifying pathway communities using a disease-related map of integrated information. PMID:32369599
MACSNVdb: a high-quality SNV database for interspecies genetic divergence investigation among macaques. PMID:32367112
Signaling Inclusivity in Undergraduate Biology Courses through Deliberate Framing of Genetics Topics Relevant to Gender Identity, Disability, and Race. PMID:32357097
The Predicted Key Molecules, Functions, and Pathways That Bridge Mild Cognitive Impairment (MCI) and Alzheimer's Disease (AD). PMID:32308643
A reference map of the human binary protein interactome. PMID:32296183
Investigation of cardiovascular protective effect of Shenmai injection by network pharmacology and pharmacological evaluation. PMID:32293408
Novel application of normalized pointwise mutual information (NPMI) to mine biomedical literature for gene sets associated with disease: use case in breast carcinogenesis. PMID:32274464
Systems Biochemistry Approaches to Defining Mitochondrial Protein Function. PMID:32268114
A Network Pharmacology Study on the Mechanisms of the Herbal Extract, Christina Loosestrife, for the Treatment of Nephrolithiasis. PMID:32241963
Ethnogeographic and inter-individual variability of human ABC transporters. PMID:32206879
A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial Metabolism and ER-Resident UFMylation. PMID:32160526
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease. PMID:32160399
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening. PMID:32123222
Investigating the multi-target pharmacological mechanism of danhong injection acting on unstable angina by combined network pharmacology and molecular docking. PMID:32122353
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. PMID:32122231
Pathogenic Gene Prediction Algorithm Based on Heterogeneous Information Fusion. PMID:32117433
Network Pharmacology-Based Investigation of the System-Level Molecular Mechanisms of the Hematopoietic Activity of Samul-Tang, a Traditional Korean Herbal Formula. PMID:32104198
MicroRNA sequencing of rat hippocampus and human biofluids identifies acute, chronic, focal and diffuse traumatic brain injuries. PMID:32094409
Transcriptome analysis reveals the difference between "healthy" and "common" aging and their connection with age-related diseases. PMID:32077223
Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies. PMID:32071193
Exploration of databases and methods supporting drug repurposing: a comprehensive survey. PMID:32055842
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription. PMID:32051525
Steamed Panax notoginseng Attenuates Anemia in Mice With Blood Deficiency Syndrome via Regulating Hematopoietic Factors and JAK-STAT Pathway. PMID:32038252
Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It. PMID:32033288
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases. PMID:32032351
A Systems Pharmacology Approach for Identifying the Multiple Mechanisms of Action for the Rougui-Fuzi Herb Pair in the Treatment of Cardiocerebral Vascular Diseases. PMID:32025235
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. PMID:32024334
The IUPHAR Guide to Immunopharmacology: connecting immunology and pharmacology. PMID:32020584
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. PMID:32019583
New markers for regulation of transcription and macromolecule metabolic process in porcine oocytes during in vitro maturation. PMID:32016446
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. PMID:32005911
Annotating and detecting phenotypic information for chronic obstructive pulmonary disease. PMID:31984360
Patient similarity by joint matrix trifactorization to identify subgroups in acute myeloid leukemia. PMID:31984320
MicroRNA and transcription factor co-regulatory networks and subtype classification of seminoma and non-seminoma in testicular germ cell tumors. PMID:31965022
MetaOmGraph: a workbench for interactive exploratory data analysis of large expression datasets. PMID:31956905
The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension. PMID:31930100
A brief history of human disease genetics. PMID:31915397
Genome analysis and knowledge-driven variant interpretation with TGex. PMID:31888639
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. PMID:31888525
Broad-Spectrum Profiling of Drug Safety via Learning Complex Network. PMID:31868917
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining. PMID:31856831
dictyBase and the Dicty Stock Center (version 2.0) - a progress report. PMID:31840793
MGeND: an integrated database for Japanese clinical and genomic information. PMID:31839973
Clinical evidence-guided network pharmacology analysis reveals a critical contribution of β1-adrenoreceptor upregulation to bradycardia alleviation by Shenxian-Shengmai. PMID:31822281
The distributions of protein coding genes within chromatin domains in relation to human disease. PMID:31805995
The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation. PMID:31769834
A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. PMID:31767637
ChiTaRS 5.0: the comprehensive database of chimeric transcripts matched with druggable fusions and 3D chromatin maps. PMID:31747015
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. PMID:31735951
PCOSBase: a manually curated database of polycystic ovarian syndrome. PMID:31725861
Comparative analysis of cellular expression pattern of schizophrenia risk genes in human versus mouse cortex. PMID:31700606
Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity. PMID:31695696
The IUPHAR/BPS Guide to PHARMACOLOGY in 2020: extending immunopharmacology content and introducing the IUPHAR/MMV Guide to MALARIA PHARMACOLOGY. PMID:31691834
A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. PMID:31691811
RareLSD: a manually curated database of lysosomal enzymes associated with rare diseases. PMID:31688938
Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care. PMID:31688677
Ensembles of natural language processing systems for portable phenotyping solutions. PMID:31655273
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. PMID:31642496
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PMID:31642469
Ubiquitin Ligases Involved in the Regulation of Wnt, TGF-β, and Notch Signaling Pathways and Their Roles in Mouse Development and Homeostasis. PMID:31623112
Biological Network Approaches and Applications in Rare Disease Studies. PMID:31614842
VarSite: Disease variants and protein structure. PMID:31606900
Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine. PMID:31586224
Predicting circRNA-Disease Associations Based on circRNA Expression Similarity and Functional Similarity. PMID:31572444
Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. PMID:31501267
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. PMID:31479590
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. PMID:31467448
C3: Consensus Cancer Driver Gene Caller. PMID:31465854
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. PMID:31463572
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy. PMID:31452356
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Understanding protein multifunctionality: from short linear motifs to cellular functions. PMID:31432235
Disease classification via gene network integrating modules and pathways. PMID:31417727
Network Pharmacology Identifies the Mechanisms of Action of Shaoyao Gancao Decoction in the Treatment of Osteoarthritis. PMID:31409761
Quantifying gene selection in cancer through protein functional alteration bias. PMID:31334812
EPIC: software toolkit for elution profile-based inference of protein complexes. PMID:31308550
PhenPath: a tool for characterizing biological functions underlying different phenotypes. PMID:31307376
Prioritization and comprehensive analysis of genes associated with melanoma. PMID:31289481
Assessing predictions on fitness effects of missense variants in calmodulin. PMID:31283071
Disease gene prediction for molecularly uncharacterized diseases. PMID:31276496
Mechanisms of Compound Kushen Injection for the Treatment of Lung Cancer Based on Network Pharmacology. PMID:31275410
Fusion of multiple heterogeneous networks for predicting circRNA-disease associations. PMID:31270357
Research on the Potential Mechanism of Gypenosides on Treating Thyroid-Associated Ophthalmopathy Based on Network Pharmacology. PMID:31268042
Proteomics INTegrator (PINT): An Online Tool To Store, Query, and Visualize Large Proteomics Experiment Results. PMID:31260318
Unweaving the role of nuclear Lamins in neural circuit integrity. PMID:31223139
Active repurposing of drug candidates for melanoma based on GWAS, PheWAS and a wide range of omics data. PMID:31221082
Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome. PMID:31216618
Meta-analysis of genomic variants and gene expression data in schizophrenia suggests the potential need for adjunctive therapeutic interventions for neuropsychiatric disorders. PMID:31204709
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. PMID:31192527
Endometriosis Knowledgebase: a gene-based resource on endometriosis. PMID:31169291
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. PMID:31160820
Investigating the dysfunctional pathogenesis of Wilms' tumor through a multidimensional integration strategy. PMID:31157257
WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs. PMID:31114916
ResponseNet v.3: revealing signaling and regulatory pathways connecting your proteins and genes across human tissues. PMID:31114913
BEERE: a web server for biomedical entity expansion, ranking and explorations. PMID:31114876
The ATP-dependent chromatin remodelling enzyme Uls1 prevents Topoisomerase II poisoning. PMID:31106359
MutationDistiller: user-driven identification of pathogenic DNA variants. PMID:31106342
Optimal control nodes in disease-perturbed networks as targets for combination therapy. PMID:31097707
Pathway-specific protein domains are predictive for human diseases. PMID:31075101
Exome Sequencing in Children. PMID:31056085
Novel Characterization of Antioxidant Enzyme, 3-Mercaptopyruvate Sulfurtransferase-Knockout Mice: Overexpression of the Evolutionarily-Related Enzyme Rhodanese. PMID:31052467
The Promoter Regions of Intellectual Disability-Associated Genes Are Uniquely Enriched in LTR Sequences of the MER41 Primate-Specific Endogenous Retrovirus: An Evolutionary Connection Between Immunity and Cognition. PMID:31031802
Identifying Disease-Gene Associations With Graph-Regularized Manifold Learning. PMID:31001321
De Novo Transcriptome Assembly and Functional Annotation in Five Species of Bats. PMID:30996290
In silico Characterization of Human Prion-Like Proteins: Beyond Neurological Diseases. PMID:30971948
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects. PMID:30952858
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar. PMID:30937429
Prioritization of candidate metabolites for postmenopausal osteoporosis using multi-omics composite network. PMID:30936988
Identification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary Function. PMID:30881373
Using genetic drug-target networks to develop new drug hypotheses for major depressive disorder. PMID:30877270
Natural Selection Equally Supports the Human Tendencies in Subordination and Domination: A Genome-Wide Study With in silico Confirmation and in vivo Validation in Mice. PMID:30873204
Identification of Key Metabolites for Acute Lung Injury in Patients with Sepsis. PMID:30847314
Isoform-specific GSK3A activity is negatively correlated with human sperm motility. PMID:30824926
Identifying Windows of Susceptibility by Temporal Gene Analysis. PMID:30809014
A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. PMID:30797065
Data-driven multiple-level analysis of gut-microbiome-immune-joint interactions in rheumatoid arthritis. PMID:30744546
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
Ranking Cancer Proteins by Integrating PPI Network and Protein Expression Profiles. PMID:30723737
Network Analysis Reveals TNF as a Major Hub of Reactive Inflammation Following Spinal Cord Injury. PMID:30700814
Genetic and genomic analyses of testicular hypoplasia in Nellore cattle. PMID:30677076
Unveiling Active Constituents and Potential Targets Related to the Hematinic Effect of Steamed Panax notoginseng Using Network Pharmacology Coupled With Multivariate Data Analyses. PMID:30670967
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. PMID:30665703
The utility of phenomics in diagnosis of inherited metabolic disorders. PMID:30651242
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. PMID:30619459
Ensembl variation resources. PMID:30576484
RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis. PMID:30564269
Identifying mouse developmental essential genes using machine learning. PMID:30563825
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations. PMID:30535305
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma. PMID:30520782
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. PMID:30514889
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. PMID:30507031
Identification of gene expression profiles in myocardial infarction: a systematic review and meta-analysis. PMID:30482209
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. PMID:30477555
GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. PMID:30477545
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets. PMID:30476243
Distributed gene clinical decision support system based on cloud computing. PMID:30454054
OMIM.org: leveraging knowledge across phenotype-gene relationships. PMID:30445645
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms. PMID:30445427
Widespread Genotype-Phenotype Correlations in Intellectual Disability. PMID:30420816
Human Disease Ontology 2018 update: classification, content and workflow expansion. PMID:30407550
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases. PMID:30398659
HmtVar: a new resource for human mitochondrial variations and pathogenicity data. PMID:30371888
iDog: an integrated resource for domestic dogs and wild canids. PMID:30371881
Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances. PMID:30371672
Quantitative and systems pharmacology 4. Network-based analysis of drug pleiotropy on coronary artery disease. PMID:30359818
Network-Based Methods for Prediction of Drug-Target Interactions. PMID:30356768
Genomic and Phenomic Research in the 21st Century. PMID:30342790
PopHumanScan: the online catalog of human genome adaptation. PMID:30335169
Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome. PMID:30268395
Topological alternate centrality measure capturing drug targets in the network of MAPK pathways. PMID:30259868
AGD: Aneurysm Gene Database. PMID:30256987
The Comparative Toxicogenomics Database: update 2019. PMID:30247620
PTMD: A Database of Human Disease-associated Post-translational Modifications. PMID:30244175
ATD: a comprehensive bioinformatics resource for deciphering the association of autophagy and diseases. PMID:30239683
Dme-Hsa Disease Database (DHDD): Conserved Human Disease-Related miRNA and Their Targeting Genes in Drosophila melanogaster. PMID:30200613
DES-Mutation: System for Exploring Links of Mutations and Diseases. PMID:30190574
Mitochondrial DNA copy number is associated with psychosis severity and anti-psychotic treatment. PMID:30143692
The impact of genome-wide association studies on biomedical research publications. PMID:30103832
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences. PMID:30083448
Phenotype-oriented network analysis for discovering pharmacological effects of natural compounds. PMID:30076354
Genetic Testing in Endocrinology. PMID:30072819
Automatic extraction of gene-disease associations from literature using joint ensemble learning. PMID:30048465
In silico prediction of novel residues involved in amyloid primary nucleation of human I56T and D67H lysozyme. PMID:30029603
Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias. PMID:30027898
Network-based approach to prediction and population-based validation of in silico drug repurposing. PMID:30002366
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency. PMID:29997612
[From symptom to syndrome using modern software support]. PMID:29995249
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. PMID:29959160
Hepatoprotective Effect of San-Cao Granule on Con A-Induced Liver Injury in Mice and Mechanisms of Action Exploration. PMID:29946260
GNOMICS: A one-stop shop for biomedical and genomic data. PMID:29888054
A proposed nosology of inborn errors of metabolism. PMID:29884839
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
Genomic atlas of the human plasma proteome. PMID:29875488
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. PMID:29861106
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Protein Interactomics by Two-Hybrid Methods. PMID:29855947
Combining mechanism-based prediction with patient-based profiling for psoriasis metabolomics biomarker discovery. PMID:29854244
Gαo (GNAO1) encephalopathies: plasma membrane vs. Golgi functions. PMID:29844856
Sorting Five Human Tumor Types Reveals Specific Biomarkers and Background Classification Genes. PMID:29802335
GIANT 2.0: genome-scale integrated analysis of gene networks in tissues. PMID:29800226
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. PMID:29790234
Zebrafish Models of Rare Hereditary Pediatric Diseases. PMID:29789451
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
Using WormBase: A Genome Biology Resource for Caenorhabditis elegans and Related Nematodes. PMID:29761466
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. PMID:29760442
PregOMICS-Leveraging systems biology and bioinformatics for drug repurposing in maternal-child health. PMID:29726581
Improved ontology-based similarity calculations using a study-wise annotation model. PMID:29688377
Bipartite graphs in systems biology and medicine: a survey of methods and applications. PMID:29648623
Transcriptome-wide discovery of coding and noncoding RNA-binding proteins. PMID:29636419
Recognition of the polycistronic nature of human genes is critical to understanding the genotype-phenotype relationship. PMID:29626081
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. PMID:29621297
A 35-gene signature discriminates between rapidly- and slowly-progressing glioblastoma multiforme and predicts survival in known subtypes of the cancer. PMID:29614978
A genomics approach reveals insights into the importance of gene losses for mammalian adaptations. PMID:29572503
Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project. PMID:29551419
Discovery and validation of a glioblastoma co-expressed gene module. PMID:29541392
Identification of Shared Molecular Signatures Indicate the Susceptibility of Endometriosis to Multiple Sclerosis. PMID:29503661
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. PMID:29486463
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. PMID:29483656
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. PMID:29474920
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees. PMID:29397366
Interleukins and their signaling pathways in the Reactome biological pathway database. PMID:29378288
PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases. PMID:29370821
The role of the clinician in the multi-omics era: are you ready? PMID:29362952
PhenoRank: reducing study bias in gene prioritization through simulation. PMID:29360927
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. PMID:29340838
Investigation and identification of functional post-translational modification sites associated with drug binding and protein-protein interactions. PMID:29322920
Precision oncology in the age of integrative genomics. PMID:29319699
Biotea: semantics for Pubmed Central. PMID:29312824
Stable solution to l 2,1-based robust inductive matrix completion and its application in linking long noncoding RNAs to human diseases. PMID:29297358
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. PMID:29276006
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. PMID:29276005
Developing a 'personalome' for precision medicine: emerging methods that compute interpretable effect sizes from single-subject transcriptomes. PMID:29272327
Enhancing the Promise of Drug Repositioning through Genetics. PMID:29270124
Prioritizing chronic obstructive pulmonary disease (COPD) candidate genes in COPD-related networks. PMID:29262568
Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective. PMID:29258237
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data. PMID:29226803
DLREFD: a database providing associations of long non-coding RNAs, environmental factors and phenotypes. PMID:29220470
NRDTD: a database for clinically or experimentally supported non-coding RNAs and drug targets associations. PMID:29220444
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
Functional germline variants as potential co-oncogenes. PMID:29177190
ClinVar: improving access to variant interpretations and supporting evidence. PMID:29165669
The IUPHAR/BPS Guide to PHARMACOLOGY in 2018: updates and expansion to encompass the new guide to IMMUNOPHARMACOLOGY. PMID:29149325
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans. PMID:29145497
Saccharomyces genome database informs human biology. PMID:29140510
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. PMID:29140481
Network pharmacology exploration reveals endothelial inflammation as a common mechanism for stroke and coronary artery disease treatment of Danhong injection. PMID:29133791
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. PMID:29133643
PedAM: a database for Pediatric Disease Annotation and Medicine. PMID:29126123
A systematic survey to identify lethal recessive variation in highly managed pig populations. PMID:29121877
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
eRAM: encyclopedia of rare disease annotations for precision medicine. PMID:29106618
Protein-mRNA interactome capture: cartography of the mRNP landscape. PMID:29098073
Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse. PMID:29092072
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
The DifferentialNet database of differential protein-protein interactions in human tissues. PMID:29069447
WormBase 2017: molting into a new stage. PMID:29069413
Xenbase: a genomic, epigenomic and transcriptomic model organism database. PMID:29059324
Database Resources of the BIG Data Center in 2018. PMID:29036542
Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules. PMID:28993790
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine. PMID:28968638
Quantitative and Systems Pharmacology. 1. In Silico Prediction of Drug-Target Interactions of Natural Products Enables New Targeted Cancer Therapy. PMID:28956927
Mimvec: a deep learning approach for analyzing the human phenome. PMID:28950906
Identification of potential cancer-related pseudogenes in lung adenocarcinoma based on ceRNA hypothesis. PMID:28938616
A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map. PMID:28923001
Chronic obstructive pulmonary disease candidate gene prioritization based on metabolic networks and functional information. PMID:28873096
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. PMID:28867931
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. PMID:28864117
Association between mitochondrial DNA variations and schizophrenia in the northern Chinese Han population. PMID:28846698
Zebrafish Models of Human Disease: Gaining Insight into Human Disease at ZFIN. PMID:28838067
Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse. PMID:28838066
Inferred inheritance of MorbidMap genes without OMIM clinical synopsis. PMID:28837159
Decoding disease-causing mechanisms of missense mutations from supramolecular structures. PMID:28819267
Discovering Condition-Specific Gene Co-Expression Patterns Using Gaussian Mixture Models: A Cancer Case Study. PMID:28819158
eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes. PMID:28812536
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. PMID:28796445
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. PMID:28782058
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health. PMID:28777930
Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:28775688
Towards a more molecular taxonomy of disease. PMID:28750648
A new era in the interpretation of human genomic variation. PMID:28703787
Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes. PMID:28654725
Prevalence of sexual dimorphism in mammalian phenotypic traits. PMID:28650954
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
Meta-analysis of host response networks identifies a common core in tuberculosis. PMID:28649431
Identification of sequence variants influencing immunoglobulin levels. PMID:28628107
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers. PMID:28623182
Remodeling adipose tissue through in silico modulation of fat storage for the prevention of type 2 diabetes. PMID:28606124
Computational analysis of multimorbidity between asthma, eczema and rhinitis. PMID:28598986
Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. PMID:28596423
brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets. PMID:28595657
Sources of discordance among germ-line variant classifications in ClinVar. PMID:28569743
GLADIATOR: a global approach for elucidating disease modules. PMID:28549478
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. PMID:28521008
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. PMID:28502612
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome. PMID:28482049
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors. PMID:28440963
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. PMID:28349240
Pathogenic variants in the healthy elderly: unique ethical and practical challenges. PMID:28341755
In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis. PMID:28339466
Systematic morphological profiling of human gene and allele function via Cell Painting. PMID:28315521
Network analysis reveals crosstalk between autophagy genes and disease genes. PMID:28295050
Accurate and equitable medical genomic analysis requires an understanding of demography and its influence on sample size and ratio. PMID:28241850
Systematic analyses of drugs and disease indications in RepurposeDB reveal pharmacological, biological and epidemiological factors influencing drug repositioning. PMID:28200013
Predicting disease-related genes using integrated biomedical networks. PMID:28198675
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
From comorbidities of chronic obstructive pulmonary disease to identification of shared molecular mechanisms by data integration. PMID:28185567
Prediction of Protein Interactions by Structural Matching: Prediction of PPI Networks and the Effects of Mutations on PPIs that Combines Sequence and Structural Information. PMID:28150242
The integration of weighted human gene association networks based on link prediction. PMID:28137253
An Asymmetrically Balanced Organization of Kinases versus Phosphatases across Eukaryotes Determines Their Distinct Impacts. PMID:28135269
Avian W and mammalian Y chromosomes convergently retained dosage-sensitive regulators. PMID:28135246
A comprehensive global genotype-phenotype database for rare diseases. PMID:28116331
A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI network. PMID:28105929
Genomics pipelines and data integration: challenges and opportunities in the research setting. PMID:28092471
Systemically identifying and prioritizing risk lncRNAs through integration of pan-cancer phenotype associations. PMID:28076842
Toward the next step in G protein-coupled receptor research: a knowledge-driven analysis for the next potential targets in drug discovery. PMID:28063110
Network-Based Approach to Identify Potential Targets and Drugs that Promote Neuroprotection and Neurorepair in Acute Ischemic Stroke. PMID:28054643
Integrated Approaches to Drug Discovery for Oxidative Stress-Related Retinal Diseases. PMID:28053689
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins. PMID:28053162
The 24th annual Nucleic Acids Research database issue: a look back and upcoming changes. PMID:28053160
Global Prioritizing Disease Candidate lncRNAs via a Multi-level Composite Network. PMID:28051121
HEDD: the human epigenetic drug database. PMID:28025347
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. PMID:27982040
Alternate-locus aware variant calling in whole genome sequencing. PMID:27964746
Exploring FlyBase Data Using QuickSearch. PMID:27930807
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible. PMID:27924014
Identification of critical paralog groups with indispensable roles in the regulation of signaling flow. PMID:27922122
dbSAP: single amino-acid polymorphism database for protein variation detection. PMID:27903894
Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. PMID:27903883
Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine. PMID:27902695
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The UCSC Genome Browser database: 2017 update. PMID:27899642
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search. PMID:27899610
The Human Phenotype Ontology in 2017. PMID:27899602
ChiTaRS-3.1-the enhanced chimeric transcripts and RNA-seq database matched with protein-protein interactions. PMID:27899596
Ensembl 2017. PMID:27899575
Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse. PMID:27899570
Identification of potential genes for human ischemic cardiomyopathy based on RNA-Seq data. PMID:27852050
FlyBase at 25: looking to the future. PMID:27799470
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. PMID:27782107
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. PMID:27753762
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. PMID:27745839
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. PMID:27725664
CeNDR, the Caenorhabditis elegans natural diversity resource. PMID:27701074
To Unveil the Molecular Mechanisms of Qi and Blood through Systems Biology-Based Investigation into Si-Jun-Zi-Tang and Si-Wu-Tang formulae. PMID:27677604
The Comparative Toxicogenomics Database: update 2017. PMID:27651457
Candidate SNP Markers of Chronopathologies Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:27635400
Fusing literature and full network data improves disease similarity computation. PMID:27578323
Data and programs in support of network analysis of genes and their association with diseases. PMID:27508260
Lessons learned from the search for genes responsible for rare Mendelian disorders. PMID:27468413
A Multi-scale Computational Platform to Mechanistically Assess the Effect of Genetic Variation on Drug Responses in Human Erythrocyte Metabolism. PMID:27467583
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. PMID:27441994
Protein function in precision medicine: deep understanding with machine learning. PMID:27423136
The Qatar genome: a population-specific tool for precision medicine in the Middle East. PMID:27408750
Gene-specific patterns of expression variation across organs and species. PMID:27391956
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. PMID:27374120
The Ensembl gene annotation system. PMID:27337980
BLAT2DOLite: An Online System for Identifying Significant Relationships between Genetic Sequences and Diseases. PMID:27315278
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Weighted mutual information analysis substantially improves domain-based functional network models. PMID:27207946
A flexible method for estimating the fraction of fitness influencing mutations from large sequencing data sets. PMID:27197222
The Somatic Nature of Cancer Allows It to Affect Highly Constrained Genes. PMID:27190005
The Chinchilla Research Resource Database: resource for an otolaryngology disease model. PMID:27173523
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. PMID:27164712
StructMAn: annotation of single-nucleotide polymorphisms in the structural context. PMID:27150811
Capturing phenotypes for precision medicine. PMID:27148566
A Clinician's perspective on clinical exome sequencing. PMID:27126233
g:Profiler-a web server for functional interpretation of gene lists (2016 update). PMID:27098042
Candidate SNP Markers of Gender-Biased Autoimmune Complications of Monogenic Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. PMID:27092142
Vaxar: A Web-Based Database of Laboratory Animal Responses to Vaccinations and Its Application in the Meta-Analysis of Different Animal Responses to Tuberculosis Vaccinations. PMID:27053566
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. PMID:27048656
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. PMID:27018472
Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation. PMID:27011785
A network pharmacology approach to discover active compounds and action mechanisms of San-Cao Granule for treatment of liver fibrosis. PMID:26929602
The UniProtKB guide to the human proteome. PMID:26896845
BATMAN-TCM: a Bioinformatics Analysis Tool for Molecular mechANism of Traditional Chinese Medicine. PMID:26879404
A novel mutation in CELSR1 is associated with hereditary lymphedema. PMID:26855770
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
Cross-Species Integrative Functional Genomics in GeneWeaver Reveals a Role for Pafah1b1 in Altered Response to Alcohol. PMID:26834590
Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships. PMID:26818594
Network Analysis of Human Genes Influencing Susceptibility to Mycobacterial Infections. PMID:26751573
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. PMID:26746786
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation. PMID:26713447
Dintor: functional annotation of genomic and proteomic data. PMID:26691694
Ensembl 2016. PMID:26687719
DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations. PMID:26673408
GeneWeaver: data driven alignment of cross-species genomics in biology and disease. PMID:26656951
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. PMID:26615194
The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases. PMID:26615188
Global Prioritization of Disease Candidate Metabolites Based on a Multi-omics Composite Network. PMID:26598063
Lynx: a knowledge base and an analytical workbench for integrative medicine. PMID:26590263
ClinVar: public archive of interpretations of clinically relevant variants. PMID:26582918
SEA: a super-enhancer archive. PMID:26578594
WormBase 2016: expanding to enable helminth genomic research. PMID:26578572
dbPTM 2016: 10-year anniversary of a resource for post-translational modification of proteins. PMID:26578568
PCOSKB: A KnowledgeBase on genes, diseases, ontology terms and biochemical pathways associated with PolyCystic Ovary Syndrome. PMID:26578565
Next-generation diagnostics and disease-gene discovery with the Exomiser. PMID:26562621
Evidence of Mitochondrial Dysfunction within the Complex Genetic Etiology of Schizophrenia. PMID:26550561
MouseNet v2: a database of gene networks for studying the laboratory mouse and eight other model vertebrates. PMID:26527726
How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter. PMID:26516624
A functional module-based exploration between inflammation and cancer in esophagus. PMID:26489668
DIDA: A curated and annotated digenic diseases database. PMID:26481352
Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales. PMID:26454016
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. PMID:26445875
MitoMiner v3.1, an update on the mitochondrial proteomics database. PMID:26432830
Using Gene Essentiality and Synthetic Lethality Information to Correct Yeast and CHO Cell Genome-Scale Models. PMID:26426067
Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data. PMID:26417590
Use of model organism and disease databases to support matchmaking for human disease gene discovery. PMID:26269093
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. PMID:26251998
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. PMID:26229552
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. PMID:26220709
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. PMID:26166479
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin. PMID:26152202
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors. PMID:26117142
Mechanical Properties and Failure of Biopolymers: Atomistic Reactions to Macroscale Response. PMID:26108895
The Disease Ontology: fostering interoperability between biological and clinical human disease-related data. PMID:26093607
Disease insights through cross-species phenotype comparisons. PMID:26092691
Vinculin network-mediated cytoskeletal remodeling regulates contractile function in the aging heart. PMID:26084806
The mouse gene expression database: New features and how to use them effectively. PMID:26045019
IMP 2.0: a multi-species functional genomics portal for integration, visualization and prediction of protein functions and networks. PMID:25969450
FlyNet: a versatile network prioritization server for the Drosophila community. PMID:25943544
GXD: a community resource of mouse Gene Expression Data. PMID:25939429
Transgenerational inheritance of metabolic disease. PMID:25937492
A look behind the scenes: the risk and pathogenesis of primary osteoporosis. PMID:25900210
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. PMID:25887186
Neuroimaging experience in pediatric Horner syndrome. PMID:25832988
Biological databases for human research. PMID:25712261
The 2015 Nucleic Acids Research Database Issue and molecular biology database collection. PMID:25593347
Emerging novel concept of chaperone therapies for protein misfolding diseases. PMID:24814990
McKusick's Online Mendelian Inheritance in Man (OMIM) PubMed citations: 327.

327 articles citing: McKusick's Online Mendelian Inheritance in Man (OMIM)

Deep Mutational Scanning of Protein-Protein Interactions Between Partners Expressed from Their Endogenous Loci In Vivo. PMID:35524121
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets. PMID:35338153
Network Theoretical Approach to Explore Factors Affecting Signal Propagation and Stability in Dementia's Protein-Protein Interaction Network. PMID:35327643
Parental age and retinoblastoma-a retrospective study of demographic data and genetic analysis. PMID:34799705
Pharmacokinetics of Monoclonal Antibody and Antibody Fragments in the Mouse Eye Following Systemic Administration. PMID:34750690
Learning from low-rank multimodal representations for predicting disease-drug associations. PMID:34736437
The time is ripe to investigate human centromeres by long-read sequencing†. PMID:34609504
An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data. PMID:34567069
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. PMID:34529933
Insights into the molecular mechanisms of Huangqi decoction on liver fibrosis via computational systems pharmacology approaches. PMID:34301291
Identification of viral-mediated pathogenic mechanisms in neurodegenerative diseases using network-based approaches. PMID:34237135
Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities. PMID:34200511
Design, Synthesis, Biological Evaluation and Silico Prediction of Novel Sinomenine Derivatives. PMID:34200341
Finding commonalities in rare diseases through the undiagnosed diseases network. PMID:34009343
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog. PMID:33945575
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19. PMID:33872774
Computational analysis of deleterious single nucleotide polymorphisms in catechol O-Methyltransferase conferring risk to post-traumatic stress disorder. PMID:33865170
The landscape of molecular chaperones across human tissues reveals a layered architecture of core and variable chaperones. PMID:33846299
Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants. PMID:33816556
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. PMID:33675743
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data. PMID:33632298
A Rare Case of Ribbing Disease- Diagnosis and Management. PMID:33623772
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment. PMID:33584831
A Network Pharmacology Approach to Estimate Potential Targets of the Active Ingredients of Epimedium for Alleviating Mild Cognitive Impairment and Treating Alzheimer's Disease. PMID:33574879
Gene co-expression in the interactome: moving from correlation toward causation via an integrated approach to disease module discovery. PMID:33479222
Rapid and ongoing evolution of repetitive sequence structures in human centromeres. PMID:33310858
Insights into the mechanism of Arnebia euchroma on leukemia via network pharmacology approach. PMID:33109189
Disruptive natural selection by male reproductive potential prevents underexpression of protein-coding genes on the human Y chromosome as a self-domestication syndrome. PMID:33092533
Gene Set Analysis: Challenges, Opportunities, and Future Research. PMID:32695141
Construction of an integrated human osteosarcoma database, HOsDb, based on literature mining, microarray analysis, and database retrieval. PMID:32375685
Mechanistic and topological explanations in medicine: the case of medical genetics and network medicine. PMID:32214509
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. PMID:31996268
Mechanisms of tissue and cell-type specificity in heritable traits and diseases. PMID:31913361
A network pharmacology approach to explore active compounds and pharmacological mechanisms of epimedium for treatment of premature ovarian insufficiency. PMID:31692519
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease. PMID:31609419
VarSite: Disease variants and protein structure. PMID:31606900
Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. PMID:31501267
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. PMID:31494632
Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine. PMID:31447668
Disease classification via gene network integrating modules and pathways. PMID:31417727
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA. PMID:31385193
Exploring the dark genome: implications for precision medicine. PMID:31270560
Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome. PMID:31245382
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. PMID:31192527
Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population. PMID:31072070
The multiplex network of human diseases. PMID:31044086
Pathway centrality in protein interaction networks identifies putative functional mediating pathways in pulmonary disease. PMID:30971743
Systematically Characterize the Anti-Alzheimer's Disease Mechanism of Lignans from S. chinensis based on In-Vivo Ingredient Analysis and Target-Network Pharmacology Strategy by UHPLC⁻Q-TOF-MS. PMID:30934777
Focus on the emerging new fields of Network Physiology and Network Medicine. PMID:30881198
A Perception on Genome-Wide Genetic Analysis of Metabolic Traits in Arab Populations. PMID:30761081
The computational prediction of drug-disease interactions using the dual-network L2,1-CMF method. PMID:30611214
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients. PMID:30567305
PathFX provides mechanistic insights into drug efficacy and safety for regulatory review and therapeutic development. PMID:30532240
A Network Pharmacology Approach to Uncover the Mechanisms of Shen-Qi-Di-Huang Decoction against Diabetic Nephropathy. PMID:30519269
A Network Pharmacology Approach to Uncover the Molecular Mechanisms of Herbal Formula Ban-Xia-Xie-Xin-Tang. PMID:30410554
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. PMID:30409984
A Computational Systems Pharmacology Approach to Investigate Molecular Mechanisms of Herbal Formula Tian-Ma-Gou-Teng-Yin for Treatment of Alzheimer's Disease. PMID:29997503
Mammalian Glutamyl Aminopeptidase Genes (ENPEP) and Proteins: Comparative Studies of a Major Contributor to Arterial Hypertension. PMID:29900035
A homologous mapping method for three-dimensional reconstruction of protein networks reveals disease-associated mutations. PMID:29560828
Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. PMID:29504899
Unexplored therapeutic opportunities in the human genome. PMID:29472638
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751
Co-expression Network Approach Reveals Functional Similarities among Diseases Affecting Human Skeletal Muscle. PMID:29249983
scRNASeqDB: A Database for RNA-Seq Based Gene Expression Profiles in Human Single Cells. PMID:29206167
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. PMID:29161432
Random walks on mutual microRNA-target gene interaction network improve the prediction of disease-associated microRNAs. PMID:29137601
LiverWiki: a wiki-based database for human liver. PMID:29029599
Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond. PMID:28838357
Introducing a Comprehensive Informatics Framework to Promote Breast Cancer Risk Assessment and Chemoprevention in the Primary Care Setting. PMID:28815107
Extracting Country-of-Origin from Electronic Health Records for Gene- Environment Studies as Part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) Study. PMID:28815105
HGPEC: a Cytoscape app for prediction of novel disease-gene and disease-disease associations and evidence collection based on a random walk on heterogeneous network. PMID:28619054
Recent advances in predicting gene-disease associations. PMID:28529714
GWAB: a web server for the network-based boosting of human genome-wide association data. PMID:28449091
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. PMID:28324312
Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case. PMID:28196369
Candidate SNP markers of aggressiveness-related complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. PMID:28105927
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis. PMID:27896051
PubMedPortable: A Framework for Supporting the Development of Text Mining Applications. PMID:27706202
Integrated network analysis reveals distinct regulatory roles of transcription factors and microRNAs. PMID:27604961
Properties of Boolean dynamics by node classification using feedback loops in a network. PMID:27558408
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. PMID:27527004
Searching for rare diseases in PubMed: a blind comparison of Orphanet expert query and query based on terminological knowledge. PMID:27484923
A gene browser of colorectal cancer with literature evidence and pre-computed regulatory information to identify key tumor suppressors and oncogenes. PMID:27477450
Genetics and immunity in the era of single-cell genomics. PMID:27412011
Establishing and validating regulatory regions for variant annotation and expression analysis. PMID:27357948
An integer programming framework for inferring disease complexes from network data. PMID:27307626
DNetDB: The human disease network database based on dysfunctional regulation mechanism. PMID:27209279
Systems-level analysis of human aging genes shed new light on mechanisms of aging. PMID:27179790
GCGene: a gene resource for gastric cancer with literature evidence. PMID:27127885
Text mining for precision medicine: automating disease-mutation relationship extraction from biomedical literature. PMID:27121612
UbiNet: an online resource for exploring the functional associations and regulatory networks of protein ubiquitylation. PMID:27114492
A whole genome analyses of genetic variants in two Kelantan Malay individuals. PMID:27090252
An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology. PMID:27081306
Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing. PMID:27080396
DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PMID:27073839
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. PMID:26838676
Network-based in silico drug efficacy screening. PMID:26831545
Single-cell genome sequencing: current state of the science. PMID:26806412
ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes. PMID:26699919
Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters. PMID:26694100
Proteogenomics from a bioinformatics angle: A growing field. PMID:26670565
The Saccharomyces Genome Database: Advanced Searching Methods and Data Mining. PMID:26631124
Database resources of the National Center for Biotechnology Information. PMID:26615191
The human disease network in terms of dysfunctional regulatory mechanisms. PMID:26450611
Genome-Wide Detection and Analysis of Multifunctional Genes. PMID:26436655
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. PMID:26394720
FARE-CAFE: a database of functional and regulatory elements of cancer-associated fusion events. PMID:26384373
Of Fighting Flies, Mice, and Men: Are Some of the Molecular and Neuronal Mechanisms of Aggression Universal in the Animal Kingdom? PMID:26312756
Network Modules of the Cross-Species Genotype-Phenotype Map Reflect the Clinical Severity of Human Diseases. PMID:26301634
Diversified Control Paths: A Significant Way Disease Genes Perturb the Human Regulatory Network. PMID:26284649
Relationships between predicted moonlighting proteins, human diseases, and comorbidities from a network perspective. PMID:26157390
Xenbase: Core features, data acquisition, and data processing. PMID:26150211
Publisher’s Note:Abstraction for data integration:Fusing mammalian molecular, cellular and phenotype big datasets for better knowledge extraction. PMID:26101093
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. PMID:26075876
Implementation of linked data in the life sciences at BioHackathon 2011. PMID:25973165
A novel method for identifying disease associated protein complexes based on functional similarity protein complex networks. PMID:25969691
Assembly of a comprehensive regulatory network for the mammalian circadian clock: a bioinformatics approach. PMID:25945798
PGMD: a comprehensive manually curated pharmacogenomic database. PMID:25939485
Genome-wide methylation study on depression: differential methylation and variable methylation in monozygotic twins. PMID:25918994
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. PMID:25877637
Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. PMID:25720963
Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. PMID:25687726
Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networks. PMID:25679399
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. PMID:25548800
Selecting causal genes from genome-wide association studies via functionally coherent subnetworks. PMID:25532137
Tumor antigens as proteogenomic biomarkers in invasive ductal carcinomas. PMID:25521819
An integrative computational approach for prioritization of genomic variants. PMID:25506935
Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases. PMID:25479423
OrthoDB v8: update of the hierarchical catalog of orthologs and the underlying free software. PMID:25428351
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A. PMID:25400662
dbSNO 2.0: a resource for exploring structural environment, functional and disease association and regulatory network of protein S-nitrosylation. PMID:25399423
Database resources of the National Center for Biotechnology Information. PMID:25398906
DDMGD: the database of text-mined associations between genes methylated in diseases from different species. PMID:25398897
Co-expression Network Analysis of Human lncRNAs and Cancer Genes. PMID:25392693
Text mining in cancer gene and pathway prioritization. PMID:25392685
Human cancer databases (review). PMID:25369839
Onco-proteogenomics: cancer proteomics joins forces with genomics. PMID:25357240
Gene: a gene-centered information resource at NCBI. PMID:25355515
Network-based analysis of comorbidities risk during an infection: SARS and HIV case studies. PMID:25344230
Elucidating the genotype-phenotype relationships and network perturbations of human shared and specific disease genes from an evolutionary perspective. PMID:25287147
Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing. PMID:25246425
Lean Big Data integration in systems biology and systems pharmacology. PMID:25109570
Phen-Gen: combining phenotype and genotype to analyze rare disorders. PMID:25086502
Distribution and medical impact of loss-of-function variants in the Finnish founder population. PMID:25078778
Robustness and evolvability of the human signaling network. PMID:25077791
Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective. PMID:25054154
Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles. PMID:25032988
The domain landscape of virus-host interactomes. PMID:24991570
PubServer: literature searches by homology. PMID:24957597
Protein conservation and variation suggest mechanisms of cell type-specific modulation of signaling pathways. PMID:24922536
Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases. PMID:24921629
Finding novel molecular connections between developmental processes and disease. PMID:24874013
MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network. PMID:24861622
Analysis of the robustness of network-based disease-gene prioritization methods reveals redundancy in the human interactome and functional diversity of disease-genes. PMID:24733074
An extensive analysis of disease-gene associations using network integration and fast kernel-based gene prioritization methods. PMID:24726035
From genomes to societies: a holistic view of determinants of human health. PMID:24686286
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). PMID:24578721
Network reconstruction of platelet metabolism identifies metabolic signature for aspirin resistance. PMID:24473230
ISAAC - InterSpecies Analysing Application using Containers. PMID:24428905
A computational framework to infer human disease-associated long noncoding RNAs. PMID:24392133
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PMID:24348229
STITCH 4: integration of protein-chemical interactions with user data. PMID:24293645
Representing annotation compositionality and provenance for the Semantic Web. PMID:24268021
RefSeq: an update on mammalian reference sequences. PMID:24259432
Database resources of the National Center for Biotechnology Information. PMID:24259429
CoMAGC: a corpus with multi-faceted annotations of gene-cancer relations. PMID:24225062
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. PMID:24217912
UniHI 7: an enhanced database for retrieval and interactive analysis of human molecular interaction networks. PMID:24214987
Characterization of regulatory features of housekeeping and tissue-specific regulators within tissue regulatory networks. PMID:24172660
Experimental design-based functional mining and characterization of high-throughput sequencing data in the sequence read archive. PMID:24167589
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. PMID:24077912
Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism. PMID:24040966
EvoSNP-DB: A database of genetic diversity in East Asian populations. PMID:23977990
Yin and Yang of disease genes and death genes between reciprocally scale-free biological networks. PMID:23935122
Target essentiality and centrality characterize drug side effects. PMID:23874169
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3. PMID:23862152
GStream: improving SNP and CNV coverage on genome-wide association studies. PMID:23844243
Mapping the functional yeast ABC transporter interactome. PMID:23831759
Collective judgment predicts disease-associated single nucleotide variants. PMID:23819846
Community leaders' perspectives on engaging African Americans in biobanks and other human genetics initiatives. PMID:23813337
Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle. PMID:23791107
PosMed: Ranking genes and bioresources based on Semantic Web Association Study. PMID:23761449
Cytoplasmic RNA viruses as potential vehicles for the delivery of therapeutic small RNAs. PMID:23759022
Mutations within lncRNAs are effectively selected against in fruitfly but not in human. PMID:23710818
Chapter 15: disease gene prioritization. PMID:23633938
Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population. PMID:23592922
Knowledge discovery in variant databases using inductive logic programming. PMID:23589683
Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach. PMID:23561625
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. PMID:23516557
search GenBank: interactive orchestration and ad-hoc choreography of Web services in the exploration of the biomedical resources of the National Center For Biotechnology Information. PMID:23452691
Distinct genomic aberrations between low-grade and high-grade gliomas of Chinese patients. PMID:23451178
Neurocarta: aggregating and sharing disease-gene relations for the neurosciences. PMID:23442263
Global analysis of the human pathophenotypic similarity gene network merges disease module components. PMID:23437198
STOP using just GO: a multi-ontology hypothesis generation tool for high throughput experimentation. PMID:23409969
A rational free energy-based approach to understanding and targeting disease-causing missense mutations. PMID:23408511
A survey of tools for variant analysis of next-generation genome sequencing data. PMID:23341494
Disentangling function from topology to infer the network properties of disease genes. PMID:23324116
Semantically enabling a genome-wide association study database. PMID:23244533
The Disease and Gene Annotations (DGA): an annotation resource for human disease. PMID:23197658
KIDFamMap: a database of kinase-inhibitor-disease family maps for kinase inhibitor selectivity and binding mechanisms. PMID:23193279
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. PMID:23193275
Database resources of the National Center for Biotechnology Information. PMID:23193264
Genenames.org: the HGNC resources in 2013. PMID:23161694
The UCSC Genome Browser database: extensions and updates 2013. PMID:23155063
Insights into the evolutionary features of human neurodegenerative diseases. PMID:23118989
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. PMID:23104991
Biological function through network topology: a survey of the human diseasome. PMID:22962330
Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies. PMID:22952232
The UCSC genome browser and associated tools. PMID:22908213
HINT: High-quality protein interactomes and their applications in understanding human disease. PMID:22846459
Bayesian ontology querying for accurate and noise-tolerant semantic searches. PMID:22843981
Increased de novo copy number variants in the offspring of older males. PMID:22832608
Uncovering MicroRNA and Transcription Factor Mediated Regulatory Networks in Glioblastoma. PMID:22829753
CIDeR: multifactorial interaction networks in human diseases. PMID:22809392
Constructing a gene semantic similarity network for the inference of disease genes. PMID:22784573
SigCS base: an integrated genetic information resource for human cerebral stroke. PMID:22784567
Viral perturbations of host networks reflect disease etiology. PMID:22761553
Systematic elucidation and in vivo validation of sequences enriched in hindbrain transcriptional control. PMID:22759862
Disease-related mutations predicted to impact protein function. PMID:22759649
Noninvasive whole-genome sequencing of a human fetus. PMID:22674554
Mutations and binding sites of human transcription factors. PMID:22670148
Three ontologies to define phenotype measurement data. PMID:22654893
Cardiovascular genomics: a biomarker identification pipeline. PMID:22614726
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. PMID:22606059
Pathway detection from protein interaction networks and gene expression data using color-coding methods and A∗ search algorithms. PMID:22577352
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B. PMID:22423892
Phylo: a citizen science approach for improving multiple sequence alignment. PMID:22412834
Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach. PMID:22384055
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. PMID:22369051
Three-dimensional reconstruction of protein networks provides insight into human genetic disease. PMID:22252508
Bioinformatics for personal genome interpretation. PMID:22247263
SNPdbe: constructing an nsSNP functional impacts database. PMID:22210871
Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors. PMID:22203219
E3Net: a system for exploring E3-mediated regulatory networks of cellular functions. PMID:22199232
Novel search method for the discovery of functional relationships. PMID:22180409
Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. PMID:22147367
Data analysis and data mining: current issues in biomedical informatics. PMID:22146916
Using the reconstructed genome-scale human metabolic network to study physiology and pathology. PMID:22142339
HIstome--a relational knowledgebase of human histone proteins and histone modifying enzymes. PMID:22140112
Database resources of the National Center for Biotechnology Information. PMID:22140104
The UCSC Genome Browser database: extensions and updates 2011. PMID:22086951
WormBase 2012: more genomes, more data, new website. PMID:22067452
The UCSC Genome Browser. PMID:21975940
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. PMID:21931771
BioMart as an integration solution for the International Knockout Mouse Consortium. PMID:21930503
Systems biology and the future of medicine. PMID:21928407
Tissue-specific gene expression templates for accurate molecular characterization of the normal physiological states of multiple human tissues with implication in development and cancer studies. PMID:21880155
An integrative approach to ortholog prediction for disease-focused and other functional studies. PMID:21880147
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases. PMID:21858011
The 2nd DBCLS BioHackathon: interoperable bioinformatics Web services for integrated applications. PMID:21806842
The human genome retains relics of its prokaryotic ancestry: human genes of archaebacterial and eubacterial origin exhibit remarkable differences. PMID:21795752
A framework for the study of multiple realizations: the importance of levels of analysis. PMID:21772823
iAB-RBC-283: A proteomically derived knowledge-base of erythrocyte metabolism that can be used to simulate its physiological and patho-physiological states. PMID:21749716
BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation. PMID:21696594
When orthologs diverge between human and mouse. PMID:21677033
The GUDMAP database--an online resource for genitourinary research. PMID:21652655
Protein coalitions in a core mammalian biochemical network linked by rapidly evolving proteins. PMID:21612628
Bioinformatics challenges for personalized medicine. PMID:21596790
Signalogs: orthology-based identification of novel signaling pathway components in three metazoans. PMID:21559328
The case for locus-specific databases. PMID:21540879
Saturation of the human phenome. PMID:21532833
HMMerThread: detecting remote, functional conserved domains in entire genomes by combining relaxed sequence-database searches with fold recognition. PMID:21423752
Transactional database transformation and its application in prioritizing human disease genes. PMID:21422495
Interactome networks and human disease. PMID:21414488
The impact of multifunctional genes on "guilt by association" analysis. PMID:21364756
GARNET--gene set analysis with exploration of annotation relations. PMID:21342555
Revisiting Mendelian disorders through exome sequencing. PMID:21331778
Worm Phenotype Ontology: integrating phenotype data within and beyond the C. elegans community. PMID:21261995
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. PMID:21258063
Mouse mutants and phenotypes: accessing information for the study of mammalian gene function. PMID:21185380
Network medicine: a network-based approach to human disease. PMID:21164525
The interplay between evolution, regulation and tissue specificity in the Human Hereditary Diseasome. PMID:21143807
Toward an automatic method for extracting cancer- and other disease-related point mutations from the biomedical literature. PMID:21138947
Entrez Gene: gene-centered information at NCBI. PMID:21115458
Database resources of the National Center for Biotechnology Information. PMID:21097890
miRGator v2.0: an integrated system for functional investigation of microRNAs. PMID:21062822
The mouse Gene Expression Database (GXD): 2011 update. PMID:21062809
The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics. PMID:21051359
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PMID:21042586
CancerResource: a comprehensive database of cancer-relevant proteins and compound interactions supported by experimental knowledge. PMID:20952398
PICMI: mapping point mutations on genomes. PMID:20940168
Biomedical text summarization to support genetic database curation: using Semantic MEDLINE to create a secondary database of genetic information. PMID:20936065
The Protein Ontology: a structured representation of protein forms and complexes. PMID:20935045
Do-it-yourself genetic testing. PMID:20932271
The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium. PMID:20929875
genenames.org: the HGNC resources in 2011. PMID:20929869
DDPC: Dragon Database of Genes associated with Prostate Cancer. PMID:20880996
MatrixDB, the extracellular matrix interaction database. PMID:20852260
TRIP Database: a manually curated database of protein-protein interactions for mammalian TRP channels. PMID:20851834
A systems biology approach to identify effective cocktail drugs. PMID:20840734
Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR. PMID:20823330
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PMID:20577567
Network properties of human disease genes with pleiotropic effects. PMID:20525321
PhenoHM: human-mouse comparative phenome-genome server. PMID:20507906
Phenotypic connections in surprising places. PMID:20423531
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. PMID:20360267
Two approaches to integrating phenotype and clinical information. PMID:20351826
Systematic discovery of nonobvious human disease models through orthologous phenotypes. PMID:20308572
Distribution of candidate genes for experimentally induced arthritis in rats. PMID:20196835
HDAPD: a web tool for searching the disease-associated protein structures. PMID:20158919
Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets. PMID:20140234
PhenomiR: a knowledgebase for microRNA expression in diseases and biological processes. PMID:20089154
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. PMID:20038494
Entity/quality-based logical definitions for the human skeletal phenome using PATO. PMID:19964203
Gevab: a prototype genome variation analysis browsing server. PMID:19958513
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. PMID:19958498
The UCSC Genome Browser. PMID:19957273
H-InvDB in 2009: extended database and data mining resources for human genes and transcripts. PMID:19933760
FunSimMat update: new features for exploring functional similarity. PMID:19923227
Database resources of the National Center for Biotechnology Information. PMID:19910364
The UCSC Genome Browser database: update 2010. PMID:19906737
ChimerDB 2.0--a knowledgebase for fusion genes updated. PMID:19906715
Network of Cancer Genes: a web resource to analyze duplicability, orthology and network properties of cancer genes. PMID:19906700
HLungDB: an integrated database of human lung cancer research. PMID:19900972
HHMD: the human histone modification database. PMID:19892823
KEGG for representation and analysis of molecular networks involving diseases and drugs. PMID:19880382
UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. PMID:19880380
Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies. PMID:19877174
Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. PMID:19801557
From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways. PMID:19758470
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467
The Gene Wiki: community intelligence applied to human gene annotation. PMID:19755503
Phenotypic categorization of genetic skin diseases reveals new relations between phenotypes, genes and pathways. PMID:19744994
Gendoo: functional profiling of gene and disease features using MeSH vocabulary. PMID:19498079
PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning. PMID:19468046
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. PMID:19434427
OMIM.org: leveraging knowledge across phenotype-gene relationships PubMed citations: 194.

194 articles citing: OMIM.org: leveraging knowledge across phenotype-gene relationships

Repurposing Drugs via Network Analysis: Opportunities for Psychiatric Disorders. PMID:35890359
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. PMID:35882841
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family. PMID:35864542
NTD-DR: Nonnegative tensor decomposition for drug repositioning. PMID:35862409
Network-Based Approaches for Disease-Gene Association Prediction Using Protein-Protein Interaction Networks. PMID:35806415
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure. PMID:35794153
[Therapeutic mechanism of emodin for treatment of rheumatoid arthritis: a network pharmacology-based analysis]. PMID:35790443
Prioritizing Suggestive Candidate Genes in Migraine: An Opinion. PMID:35785356
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation. PMID:35754516
Open problems in human trait genetics. PMID:35725481
Identification of HOX signatures contributing to oral cancer phenotype. PMID:35710803
Network approaches for modeling the effect of drugs and diseases. PMID:35704883
DisPhaseDB: An integrative database of diseases related variations in liquid-liquid phase separation proteins. PMID:35685370
Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila. PMID:35674905
Network Pharmacology and Experimental Verification Strategies to Illustrate the Mechanism of Jian-Pi-Yi-Shen Formula in Suppressing Epithelial-Mesenchymal Transition. PMID:35656312
AnthraxKP: a knowledge graph-based, Anthrax Knowledge Portal mined from biomedical literature. PMID:35653350
Deciphering the Effects and Mechanisms of Yi-Fei-San-Jie-pill on Non-Small Cell Lung Cancer With Integrating Network Target Analysis and Experimental Validation. PMID:35645820
Analysis of multiple databases identifies crucial genes correlated with prognosis of hepatocellular carcinoma. PMID:35637248
Case report: Hyperthyroid hypokalemic periodic paralysis. PMID:35620041
A Simple Standard for Sharing Ontological Mappings (SSSOM). PMID:35616100
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PMID:35613087
Deep phenotyping: symptom annotation made simple with SAMS. PMID:35524573
Network pharmacology combined with molecular docking to explore the potential mechanisms for the antioxidant activity of Rheum tanguticum seeds. PMID:35505340
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. PMID:35484572
Computational and experimental methods for classifying variants of unknown clinical significance. PMID:35483875
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. PMID:35446370
Bioinformatic identification of previously unrecognized amyloidogenic proteins. PMID:35405097
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease. PMID:35391505
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. PMID:35379322
Characterization of the Secretome, Transcriptome, and Proteome of Human β Cell Line EndoC-βH1. PMID:35378291
TBGA: a large-scale Gene-Disease Association dataset for Biomedical Relation Extraction. PMID:35361129
Diseases 2.0: a weekly updated database of disease-gene associations from text mining and data integration. PMID:35348648
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases. PMID:35337356
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. PMID:35294868
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. PMID:35288587
FlyBase: a guided tour of highlighted features. PMID:35266522
PSINDB: the postsynaptic protein-protein interaction database. PMID:35234850
PubChem Protein, Gene, Pathway, and Taxonomy Data Collections: Bridging Biology and Chemistry through Target-Centric Views of PubChem Data. PMID:35227770
Uncovering a Hub Signaling Pathway of Antimicrobial-Antifungal-Anticancer Peptides' Axis on Short Cationic Peptides via Network Pharmacology Study. PMID:35216171
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study. PMID:35178068
Network Pharmacology and Molecular Docking-Based Mechanism Study to Reveal the Protective Effect of Salvianolic Acid C in a Rat Model of Ischemic Stroke. PMID:35153756
Centers for Mendelian Genomics: A decade of facilitating gene discovery. PMID:35148959
Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases. PMID:35144616
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. PMID:35143074
Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes. PMID:35137181
A clinician's guide to omics resources in dermatology. PMID:35104371
Ontology-based identification and prioritization of candidate drugs for epilepsy from literature. PMID:35073996
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. PMID:35063063
Clinical Efficacy Evaluation and Potential Mechanism of Zhishe Tongluo Capsule in the Treatment of Cerebral Infarction by Meta-Analysis Associated with Network Pharmacology. PMID:35047043
Mechanistic insights into the use of rhubarb in diabetic kidney disease treatment using network pharmacology. PMID:35029893
LLPSDB v2.0: an updated database of proteins undergoing liquid-liquid phase separation in vitro. PMID:35025997
Maturation and application of phenome-wide association studies. PMID:34991903
Embeddings from protein language models predict conservation and variant effects. PMID:34967936
Shu-Di-Huang and Gan-Cao Herb Pair Restored the Differentiation Potentials of Mesenchymal Stem Progenitors in Treating Osteoporosis via Downregulation of NF-κB Signaling Pathway. PMID:34950216
Screening Analysis of Platelet miRNA Profile Revealed miR-142-3p as a Potential Biomarker in Modeling the Risk of Acute Coronary Syndrome. PMID:34944034
Genome sequencing as a first-line diagnostic test for hospitalized infants. PMID:34930662
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Integrated Strategy From In Vitro, In Situ, In Vivo to In Silico for Predicting Active Constituents and Exploring Molecular Mechanisms of Tongfengding Capsule for Treating Gout by Inhibiting Inflammatory Responses. PMID:34912220
RefSeq Functional Elements as experimentally assayed nongenic reference standards and functional interactions in human and mouse. PMID:34876495
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human. PMID:34828399
In silico Methods for Identification of Potential Therapeutic Targets. PMID:34826045
Network medicine for disease module identification and drug repurposing with the NeDRex platform. PMID:34824199
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. PMID:34816580
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation. PMID:34764282
VARIDT 2.0: structural variability of drug transporter. PMID:34747471
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. PMID:34737199
RNAPhaSep: a resource of RNAs undergoing phase separation. PMID:34718740
RPS: a comprehensive database of RNAs involved in liquid-liquid phase separation. PMID:34718734
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. PMID:34645491
Integrated Network Pharmacology Analysis and In Vitro Validation Revealed the Potential Active Components and Underlying Mechanistic Pathways of Herba Patriniae in Colorectal Cancer. PMID:34641576
Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants. PMID:34636724
Δ9-Tetrahydrocannabinol inhibits Hedgehog-dependent patterning during development. PMID:34610637
Targeting cathepsins: A potential link between COVID-19 and associated neurological manifestations. PMID:34604555
RNA-RNA interactions between SARS-CoV-2 and host benefit viral development and evolution during COVID-19 infection. PMID:34585235
Network pharmacology study on the mechanism of Qiangzhifang in the treatment of panic disorder. PMID:34532487
Using hierarchical similarity to examine the genetics of Behçet's disease. PMID:34507623
ViMIC: a database of human disease-related virus mutations, integration sites and cis-effects. PMID:34500462
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study. PMID:34495415
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. PMID:34491624
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS. PMID:34465180
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records. PMID:34440331
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
Clan genomics: From OMIM phenotypic traits to genes and biology. PMID:34405553
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis. PMID:34349782
Anti-Autophagy Mechanism of Zhi Gan Prescription Based on Network Pharmacology in Nonalcoholic Steatohepatitis Rats. PMID:34349657
Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report. PMID:34332575
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Network Pharmacological Analysis and Experimental Validation of the Mechanisms of Action of Si-Ni-San Against Liver Fibrosis. PMID:34276360
ORA , FCS , and PT Strategies in Functional Enrichment Analysis. PMID:34236661
Genome-wide association study of stimulant dependence. PMID:34226506
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital. PMID:34136434
Analysis and Interpretation of the Impact of Missense Variants in Cancer. PMID:34063805
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks. PMID:34046427
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A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity. PMID:34015270
Novel cell types and developmental lineages revealed by single-cell RNA-seq analysis of the mouse crista ampullaris. PMID:34003106
Modeling regulatory network topology improves genome-wide analyses of complex human traits. PMID:33990562
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease. PMID:33981200
Updates to HCOP: the HGNC comparison of orthology predictions tool. PMID:33959747
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Increasing prediction accuracy of pathogenic staging by sample augmentation with a GAN. PMID:33905431
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. PMID:33836063
Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders. PMID:33807868
Genome-wide RNAi screen for regulators of UPRmt in Caenorhabditis elegans mutants with defects in mitochondrial fusion. PMID:33784383
CTD Anatomy: analyzing chemical-induced phenotypes and exposures from an anatomical perspective, with implications for environmental health studies. PMID:33768211
Mammalian Flavoproteome Analysis Using Label-Free Quantitative Mass Spectrometry. PMID:33751441
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. PMID:33743207
Genetics of osteoarthritis. PMID:33722698
Linking clinotypes to phenotypes and genotypes from laboratory test results in comprehensive physical exams. PMID:33627109
Potential effect of Maxing Shigan decoction against coronavirus disease 2019 (COVID-19) revealed by network pharmacology and experimental verification. PMID:33513419
Detection of aberrant gene expression events in RNA sequencing data. PMID:33462443
Systems Pharmacology-Based Identification of Mechanisms of Action of Bolbostemma paniculatum for the Treatment of Hepatocellular Carcinoma. PMID:33436534
The case for open science: rare diseases. PMID:33426479
A dyadic approach to the delineation of diagnostic entities in clinical genomics. PMID:33417889
Erythrocytosis: genes and pathways involved in disease development. PMID:33370224
Dosage-sensitive molecular mechanisms are associated with the tissue-specificity of traits and diseases. PMID:33363699
Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis. PMID:33323119
The Human Phenotype Ontology in 2021. PMID:33264411
MarkerDB: an online database of molecular biomarkers. PMID:33245771
Structural and mechanistic basis of the EMC-dependent biogenesis of distinct transmembrane clients. PMID:33236988
FlyBase: updates to the Drosophila melanogaster knowledge base. PMID:33219682
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. PMID:33208564
Tracing the footsteps of autophagy in computational biology. PMID:33201177
DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students. PMID:33198737
Delivery technologies for in utero gene therapy. PMID:33181188
A Study on the Mechanism of Milkvetch Root in the Treatment of Diabetic Nephropathy Based on Network Pharmacology. PMID:33178322
Genenames.org: the HGNC and VGNC resources in 2021. PMID:33152070
Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes. PMID:33150273
High-depth African genomes inform human migration and health. PMID:33116287
DEG 15, an update of the Database of Essential Genes that includes built-in analysis tools. PMID:33095861
A systematic review of monogenic etiologies of nonimmune hydrops fetalis. PMID:33082562
Alcohol Sensitivity as an Endophenotype of Alcohol Use Disorder: Exploring Its Translational Utility between Rodents and Humans. PMID:33066036
Systematically Exploring the Antitumor Mechanisms of Core Chinese Herbs on Hepatocellular Carcinoma: A Computational Study. PMID:33014099
cncRNAdb: a manually curated resource of experimentally supported RNAs with both protein-coding and noncoding function. PMID:33010163
Named Entity Recognition and Relation Detection for Biomedical Information Extraction. PMID:32984300
Fine-mapping and QTL tissue-sharing information improves the reliability of causal gene identification. PMID:32964524
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region. PMID:32948199
Protein Databases Related to Liquid-Liquid Phase Separation. PMID:32947964
IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility. PMID:32941628
Deciphering the Plasma Proteome of Type 2 Diabetes. PMID:32928870
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation. PMID:32887689
Computational Methods and Software Tools for Functional Analysis of miRNA Data. PMID:32872205
Building the vertebrate codex using the gene breaking protein trap library. PMID:32779569
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis. PMID:32765863
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. PMID:32755546
Guidelines for human gene nomenclature. PMID:32747822
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Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging. PMID:32649873
Clinical Genetic Screening in Adult Patients with Kidney Disease. PMID:32646915
Constructing knowledge graphs and their biomedical applications. PMID:32637040
Association study based on topological constraints of protein-protein interaction networks. PMID:32612246
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis. PMID:32575372
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? PMID:32568377
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mTADA is a framework for identifying risk genes from de novo mutations in multiple traits. PMID:32522981
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Progress, Challenges, and Surprises in Annotating the Human Genome. PMID:32421357
Systematic Elucidation of the Potential Mechanisms of Core Chinese Materia Medicas in Treating Liver Cancer Based on Network Pharmacology. PMID:32382293
Therapeutics-how to treat phase separation-associated diseases. PMID:32364240
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Loricrin: Past, Present, and Future. PMID:32218335
Variant effect predictions capture some aspects of deep mutational scanning experiments. PMID:32183714
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Network Pharmacology Study on the Pharmacological Mechanism of Cinobufotalin Injection against Lung Cancer. PMID:32148531
Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies. PMID:32071193
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. PMID:32032513
Incremental data integration for tracking genotype-disease associations. PMID:31986132
Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. PMID:31943162
Cell-free DNA donor fraction analysis in pediatric and adult heart transplant patients by multiplexed allele-specific quantitative PCR: Validation of a rapid and highly sensitive clinical test for stratification of rejection probability. PMID:31929557
LLPSDB: a database of proteins undergoing liquid-liquid phase separation in vitro. PMID:31906602
ClinVar: improvements to accessing data. PMID:31777943
The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. PMID:31766582
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:31701156
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
The DisGeNET knowledge platform for disease genomics: 2019 update. PMID:31680165
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Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. PMID:31501267
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Genome sequencing and implications for rare disorders. PMID:31234920
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New models for human disease from the International Mouse Phenotyping Consortium. PMID:31127358
The 26th annual Nucleic Acids Research database issue and Molecular Biology Database Collection. PMID:30626175

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disease
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

gene
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

genetic disorder
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

genotype
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM; Online Mendelian Inheritance in Man; DOI: https://doi.org/10.25504/FAIRsharing.9qkaz9; Last edited: March 18, 2021, 11:46 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

enetic loci
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

genetic medicine
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

genetic phenotypes
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

gold standard
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

human genes
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

mutation
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

ontology
metasource: re3data.org
version: re3data.org: Online Mendelian Inheritance in Man; editing status 2021-09-03; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3188W last accessed: 2022-11-04

genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

human genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:07.713103

disease gene genetic disorder genotype phenotype enetic loci genetic medicine genetic phenotypes gold standard human genes mutation ontology genotype and phenotype genetics genetic variation human genetics rare diseases

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Online Mendelian Inheritance in Man Ontology

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Catalogue of Transmission Genetics in Arabs