OMIM

Other names: OMIM Ontology, Online Mendelian Inheritance in Man, OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes as well as the relationship between them, that is freely available and updated daily. The OMIM ontology contains terms used within the OMIM database.

Webpage:

http://omim.org/

Licence:

Name: This ontology is made available via the UMLS. Users of all UMLS ontologies must abide by the terms of the UMLS license, available at https://uts.nlm.nih.gov/license.html
URL: https://uts.nlm.nih.gov/license.html

Publications:

Publications
More detailed information about this field from each metasource.

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
PMID: 25428349
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

http://www.ncbi.nlm.nih.gov/omim/
metasource: Biontology / Bioportal
version: 2022AA extracted_at: 2022-11-04T11:10:15.597147, http://bioportal.bioontology.org/ontologies/OMIM

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
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disease
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

disease process modeling
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

genetic disorder
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

genotype
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: OMIM Ontology; Online Mendelian Inheritance in Man Ontology; DOI: https://doi.org/10.25504/FAIRsharing.b084yh; Last edited: Jan. 8, 2019, 1:30 p.m.; Last accessed: Jan 03 2022 7:11 p.m.

disease disease process modeling genetic disorder genotype phenotype

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