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human genes and diseases 172

Found 124 sources
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Source
ReputationScore*

Comparative Toxicogenomics Database


Database that aims to advance understanding about how environmental exposures affect human health. It provides manually curated information about chemical–gene/protein interactions, chemical–disease and gene–disease relationships. These data are inte ...
100%

DisGeNET: a knowledge base for disease genomics


DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific liter ...
95%

Catalogue of Somatic Mutations in Cancer


The Catalogue of Somatic Mutations in Cancer (COSMIC) is a database of manually-curated somatic mutation information relating to human cancers. The COSMIC database combines manually-curated data and genome-wide screen data.
93%

Virus Pathogen Database and Analysis Resource


The Virus Pathogen Database and Analysis Resource (ViPR) is an integrated repository of data and analysis tools for multiple virus families, supported by the National Institute of Allergy and Infectious Diseases (NIAID) Bioinformatics Resource Center ...
77%

GeneCards: human genes, protein and diseases


GeneCards is a searchable, integrated, database of human genes that provides concise genomic, transcriptomic, genetic, proteomic, functional and disease related information on all known and predicted human genes.
76%

HGMD


The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that can be adapted to a broad range of applications i ...
72%

TDR Targets


TDR Targets integrates chemical and genomic information and allows users to prioritize targets and compounds to develop and repurpose new drugs and chemical tools for human pathogens. The TDR Target Project was started in 2005 after a call for applic ...
66%

Progenetix - genomic copy number aberrations in cancer


The Progenetix database provides an overview of copy number abnormalities in human cancer from Comparative Genomic Hybridization (CGH) experiments. With 30817 cases from 1016 publications (Oct 2013), Progenetix is the largest curated database for who ...
63%

GeneWeaver


The GeneWeaver data and analytics website is a publically available resource for storing, curating and analyzing sets of genes from heterogeneous data sources. The system enables discovery of relationships among genes, variants, traits, drugs, enviro ...
61%

GWASdb


GWASdb comprises of collections of traits/diseases associated SNP (TASs) from current GWAS and their comprehensive functional annotations, as well as disease classifications.
57%

MalaCards


The MalaCards human disease database (http://www. malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources. MalaCards has a web card for each of ∼20 000 disease entries, in six global categories. It portrays a broa ...
55%

Infevers


A registry of Hereditary Auto-inflammatory Disorder Mutations.
55%

Orphanet Rare Diseases Ontology


Orphanet Rare Diseases Ontology (ORDO) provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases.
51%

Human disease methylation database


The human disease methylation database, DiseaseMeth is a web based resource focused on the aberrant methylomes of human diseases. Until recently, bulks of large-scale data are avaible and are increasingly grown, from which more information can be min ...
50%

Autophagy Database


Proteins involved in self-digestion of eukaryotic cells
50%

Digenic diseases database


DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time detailed information on genes and associated genetic variants involved in digenic diseases, the simplest form of oligogenic inheritance.
50%

Ontology for MicroRNA Target


The purpose of the OMIT ontology is to establish data exchange standards and common data elements in the microRNA (miR) domain. Biologists (cell biologists in particular) and bioinformaticians can make use of OMIT to leverage emerging semantic techno ...
50%

Patrocles


Polymorphic miRNA-mediated gene regulation in vertebrates
49%

Geneimprint


Catalogue of genes (from different species including human) that contains general information about a gene as well as whether it is imprinted and which allele is expressed.
49%

Tumor Associated Gene database


The tumor-associated gene (TAG) database was designed to utilize information from well-characterized oncogenes and tumor suppressor genes to facilitate cancer research. All target genes were identified through text-mining approach from the PubMed dat ...
49%

CancerPPD


Experimentally validated anticancer peptides
49%

AGCOH


The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer-reviewed internet journal/encyclopaedia/database focused on genes implicated in cancer, cytogenetics and clinical entities in cancer and cancer-prone hereditary diseases. Th ...
48%

Resource of Asian Primary Immunodeficiency Diseases


The Resource of Asian Primary Immunodeficiency Diseases (RAPID) is a repository of molecular alterations in primary immunodeficiency diseases (PID). It hosts information on sequence variations and expression at the mRNA and protein levels of all gene ...
47%

Human Disease-Related Viral Integration Sites


Dr.VIS collects and locates human disease-related viral integration sites. So far, about 600 sites covering 5 virus organisms and 11 human diseases are available. Integration sites in Dr.VIS are located against chromesome, cytoband, gene and refseq p ...
47%

DistiLD Database: Diseases and Traits in Linkage Disequilibrium Blocks


The DistiLD database aims to increase the usage of existing genome-wide association studies (GWAS) results by making it easy to query and visualize disease-associated SNPs and genes in their chromosomal context.
47%

ADHDgene


A genetic database for attention deficit hyperactivity disorder. ADHDgene aims to provide research community with a central genetic resource and analysis platform for ADHD, to help unveil the genetic basis of ADHD and to contribute to global mental h ...
46%

SpliceDisease


The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relation ...
46%

dbCRID


Database of Chromosomal Rearrangements In Diseases
46%

GenAtlas


GenAtlas is a database containing information on human genes, markers and phenotypes.
45%

InvFEST


Polymorphic inversions in the human genome
45%

PhenomeCentral


Repository for clinicians and scientists working in the rare disorder community. It enables secure sharing of case records by clinicians and rare disease scientists and helps the user to find additional cases of the same unnamed disorder. The reposit ...
45%

PolygenicPathways


The datasets list genes, environmental risk factors and autoantibodies in a number of polygenic diseases and provide KEGG pathway analysis etched out by susceptibility genes. Host/pathogen interactions are also characterised for herpes simplex, helic ...
45%

IGDD


Indian Genetic Disease Database
45%

NSDNA


Nervous System Disease NcRNAome Atlas
45%

dbMAE


Autosomal monoallelic expression (MAE) refers to mitotically stable, epigenetically controlled allele-specific expression of autosomal genes, with the initial non-predetermined ('random') choice of thetranscriptional activity of the two alleles maint ...
44%

MouseIndelDB


Mouse Indel Polymorphism Database
44%

PsyGeNET


Psychiatric disorders and Genes association NETwork. Exploratory analysis of psychiatric diseases and their associated genes.
43%

MutationAligner


Somatic mutation hotspots in protein domains in cancer
42%

mirDNMR


mirDNMR is a database for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by f ...
41%

mirPub


Database and a related web application which provides a powerful and intuitive interface to the researchers that want to search for publications related to particular microRNA molecules. It also provides useful information about the correlation of th ...
41%

HisgAtlas


A human immunosuppression gene database. HisgAtlas is the first database that stores a list of immunosuppression genes collected by literature mining and manual curation. 995 human immunosuppression genes and 260 associated diseases are collected in ...
40%

VnD


Consolidated database containing information on diseases, related genes and genetic variations, protein structures and drug information. The database is a useful platform for researchers studying the underlying mechanism for association among genetic ...
39%

GlycoNAVI


GlycoNAVI is a repository of data relevant to carbohydrate research. It contains a free suite of carbohydrate research tools organized by domain, including glycans, proteins, lipids, genes, diseases and samples.
38%

Hepamine


A Liver Disease Microarray Database, Visualization Platform and Data-Mining Resource. Providing Bioinformatics Data For The Study Of Liver Diseases. a liver disease microarray database, visualization platform and data-mining resource. Hepamine was ...
38%

ILDGDB


A manually curated database of genomics, transcriptomics, proteomics and drug information for interstitial lung diseases. ILDGDB is a manually curated database that provides comprehensive experimentally supported associations between genes and inter ...
37%

VIKING GENES


Viking Genes is a research project consisting of three population cohorts, VIKING II, VIKING Health Study Shetland and the Orkney Complex Disease Study (ORCADES). It aims to discover the genes and variants that influence the risk of complex diseases.
36%

Human Autophagy Database


HADb provides a complete and an up-to-date list of human genes and proteins involved directly or indirectly in autophagy as described in literature.
34%

LncRNADisease


A surprising finding in human transcriptome analysis is that protein-coding sequences only account for a small portion of the genome transcripts (1). The majority of the human genome transcripts are noncoding RNAs, in particular, long noncoding RNAs ...
34%

eRAM


Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clini ...
34%

ImmunoBase


ImmunoBase is a web based resource focused on the genetics and genomics of immunologically related human diseases. Our mission is to provide a curated and integrated set of datasets and tools, across multiple diseases, to support and promote research ...
34%

PGDB


Prostate and prostatic diseases gene database
34%

DDMGD


Associations between genes methylated in diseases
34%

PCOSKB


Genes, diseases, and pathways associated with PolyCystic Ovary Syndrome
34%

ALPSbase


Autoimmune lymphoproliferative syndrome database
34%

Organ System Heterogeneity DB


Perturbations of mammalian organisms including diseases, drug treatments and gene perturbations in mice affect organ systems differently. Some perturbations impair relatively few organ systems while others lead to highly heterogeneous or systemic eff ...
34%

rSNPBase 3.0


34%

TSGene


Tumor Suppressor Gene database
34%

G2Cdb


Genes to Cognition
34%

VarySysDB


Various types of human gene polymorphism
34%

SynLethDB


34%

TCGA SpliceSeq


34%

CTDatabase


Cancer-Testis Antigens database
34%

PubAngioGen


Public angiogenesis research portal
34%

rVarbase


Annotated SNPs within regulatory DNA elements
34%

Cancer3D


Mapping of cancer mutations to protein structures
34%

BCCTBbp


Breast Cancer Campaign Tissue Bank bioinformatics portal
34%

MethHC


DNA methylation in human cancer
34%

SZGR


SchiZophrenia Gene Resource
34%

HGVS Databases


A compilation of human mutation databases
34%

GWAS Diagram Browser


34%

dbDEMC


Differentially expressed miRNAs in human cancers
34%

dbPSHP


A database of recent positive selection across human populations
34%

NECTAR


Disease-related non-synonymous mutations
34%

MoKCa


Mutations of Kinases in Cancer
34%

CellLineNavigator


A compendium of cell line expression profiles by microarray analysis
34%

NIH Genetic Testing Registry


34%

F-SNP


Functional effects of various human SNPs
34%

SNP500Cancer


Re-sequenced SNPs from 102 reference samples
34%

BodyParts3D


Database of human anatomy, represented as 3D anatomical concepts
34%

GEneSTATION


Evolutionary genomics of pregnancy-related tissues and phenotypes
34%

OpenTein


Open Teratoma Investigation: images of teratomas derived from stem cells
34%

HbVar


Human haemoglobin variants and thalassemias
34%

IL2Rgbase


X-linked severe combined immunodeficiency mutations
34%

dbSAP


Single Amino acid polymorphisms: SNP-derived variation in human proteins
34%

EyeSite


Families of proteins functioning in the eye
34%

KERIS


Kaleidoscope of gEne Responses to Inflammation among Species
34%

VADE


VarySysDB Disease Edition: Disease-associated genomic polymorphisms
34%

EpilepsyGene


Genes and mutations related to epilepsy
34%

TopoSNP


Topographic database of non-synonymous SNPs
34%

BreCAN-DB


Breakpoint profiles of CANcer genomes
34%

Cancer RNA-Seq Nexus


34%

MDPD


Mutation Database for Parkinson's Disease
34%

DG-CST


Disease gene conserved sequence tags
34%

HemBase


Genes transcribed in differentiating human erythroid cells
34%

Digital Ageing Atlas


Human ageing-related data
34%

1000 Genomes Selection Browser


Signature of selection in the human genomes
34%

DNAreplication.net


Database for the eukaryotic DNA replication community
34%

SNPlogic


Interactive SNP annotation, selection and prioritization system for genotyping projects and/or analysis and interpretation of SNP data.
34%

MSY Breakpoint Mapper


Sequence-tagged sites in the human Y chromosome
34%

FusionCancer


FusionCancer - a database of cancer fusion genes derived from RNA-Seq data
34%

Cypriot national mutation database


Disease mutations in the Cypriot population
34%

OncoDB.HCC


Oncogenomic database of hepatocellular carcinoma
34%

HOX-PRO


Clustering of homeobox genes
34%

HCAD - Human Chromosome Aberration Database


Chromosomal breakpoints and affected genes
34%

Lowe Syndrome Mutation Database


Mutations in the OCRL1 gene encoding phosphatidylinositol-4,5-bisphosphate 5-phosphatase
34%

KBERG


KBERG is a database to decipher the functional association of Estrogen Responsive Genes, espcially the transcriptional regulation and functional classification of ERG.
34%

TPMD - Taiwan polymorphic microsatellite marker database


Microsatellite markers genotyped in Taiwanese populations
34%

HDBase


HDBase is a community website for Huntington's Disease (HD) research. Presently, contains protein-protein interaction data centered around the HD protein (huntingtin) and information on therapeutic studies in mouse.
34%

HPMR - Human Plasma Membrane Receptome


Plasma membrane protein sequences, literature, and expression database
34%

ImmuNet


Many functionally important interactions between genes and proteins involved in immunological diseases and processes are unknown. The exponential growth in public high-throughput data offers an opportunity to expand this knowledge. To unlock human-im ...
34%

HPTAA


HPTAA is a database of potential tumor-associated antigens that uses expression data from various expression platforms, including carefully chosen publicly available microarray expression data, GEO SAGE data and Unigene expression data.
34%

ERGDB - Estrogen Responsive Genes Database


Estrogen responsive genes database
34%

CSVS - The Collaborative Spanish Variability Server


The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here we present the Collaborative Spanish Variabil ...
34%

ccmGDB


Cancer Cell Metabolism Gene Database (ccmGDB) is a comprehensive annotation resource for cell metabolism genes in cancer. The objective of this database is to serve both the cancer cell metabolism and broader research communities by providing a usefu ...
34%

InterFil


The Human Intermediate Filament Database (http://www.interfil.org) was initiated by the Human Genetics Unit, University of Dundee in 2001 and was revised by the Centre for Molecular Medicine and the Bioinformatics Institute in Singapore in 2006, from ...
34%

ITTACA


ITTACA centralizes public datasets containing both microarray gene expression and clinical data of tumors. ITTACA currently focuses on breast carcinoma, bladder carcinoma, and uveal melanoma. A web interface allows users to carry out different class ...
34%

HipSci


The Human Induced Pluripotent Stem Cell Initiative (HipSci) isf establishing a large catalogue of human iPSC lines, arguably the most well characterized collection to date. The HipSci portal enables researchers to choose the right cell line for their ...
34%

DIVAS


The Disease Variant Store provides information on genetic variants observed in various disease populations. Users can quickly obtain frequencies, functional annotations, and known disease annotations by performing simple queries. Access to genetic va ...
34%

RetNet


RetNet provides tables of genes and loci causing inherited retinal diseases, such as retinitis pigmentosa, macular degeneration and Usher syndrome, and related information. This information is provided to the research community and other interested i ...
34%

dbRIP


dbRIP is a highly integrated database of Retrotransposon Insertion Polymorphism (RIPs) in human. It currently contains a non-redundant list of 1608 polymorphic Alus and 387 polymorphic L1s. In dbRIP, we deploy the utilities and genome annotation data ...
34%

Biolink Model


A high level datamodel of biological entities (genes, diseases, phenotypes, pathways, individuals, substances, etc) and their associations
34%

Biological Pathway Taxonomy


Biological Pathway Taxonomy (BPT) - hierarchical taxonomy of cellular and molecular mechanisms, metabolic reactions, and diseases that can be shown as signaling pathways. BPT was created manually based on the Elsevier Pathway Collection available for ...
34%

LongGeneDB


A data hub for long genes. Long genes harbor specific genomic and epigenomic features and have been implicated in many human diseases. LongGeneDB is an interactive, visual database containing genomic information of 992 long genes (>200 kb) in 15 spe ...
34%

Genevestigator


High performance search engine for gene expression. It integrates thousands of manually curated, well described public microarray and RNAseq experiments and nicely visualizes gene expression across different biological contexts such as diseases, drug ...
34%

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