Tag: gene-disease association


Found 17 sources
Source Match 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%

Pharmacogenomics Knowledge Base


PharmGKB is a resource that provides information about how human genetic variation affects response to medications. PharmGKB collects, curates and disseminates knowledge about clinically actionable gene-drug associations and genotype-phenotype relati ...
79%

Open Targets


The Open Targets Platform is a comprehensive and robust data integration for access to and visualisation of potential drug targets associated with disease. It brings together multiple data types and aims to assist users to identify and prioritise tar ...
74%

Pathogen Host Interactions


PHI-Base contains expertly curated molecular and biological information on genes proven to affect the outcome of pathogen-host interactions. PHI-base catalogues experimentally verified pathogenicity, virulence and effector genes from fungal, Oomycete ...
72%

SIGnaling Network Open Resource


The SIGnaling Network Open Resource. The core of SIGNOR is a collection of approximately 12,000 manually-annotated causal relationships between over 2800 human proteins participating in signal transduction. Other entities annotated in SIGNOR are comp ...
65%

BIG Data Center


The BIG Data Center at Beijing Institute of Genomics (BIG) of the Chinese Academy of Sciences provides a suite of database resources in support of worldwide research activities in both academia and industry. With the vast amounts of multi-omics data ...
61%

Exome Aggregation Consortium Browser


The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. ...
61%

LncBook


LncBook is a curated knowledgebase of human lncRNAs that features a comprehensive collection of human lncRNAs and systematic curation of lncRNAs by multi-omics data integration, functional annotation and disease association. It integrates multi-omics ...
57%

TargetMine


TargetMine integrates many types of data for human, rat and mouse. Flexible queries, export of results and data analysis are available.
55%

Target Central Resource Database


TCRD is the central resource behind the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC). TCRD contains information about human targets, with special emphasis on four families of targets that are central to the NIH IDG initiati ...
52%

database of Disease-Gene Associations with annotated Relationships


The database of Disease-Gene Associations with annotated Relationships (eDGAR) is a database for collecting and organizing the data on gene/disease associations as derived from OMIM, Humsavar and ClinVar. For each heterogeneous or polygenic disease, ...
52%

DEB Register


International Dystrophic Epidermolysis Bullosa Patient Registry (DEB Register) provides phenotypic and genotypic information on DEB and the related COL7A1 mutations. The registry is intended to aid in disease diagnosis, genetic counseling, and discov ...
52%

International Microvillus Inclusion Disease Patient Registry


The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotyp ...
48%

Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts


The Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts (DBKERO) stores transcriptome information with a catalogue of genomic variations including public SNP data and epigenome information to ena ...
47%

DISNOR


DISNOR is a resource that uses a comprehensive collection of disease associated genes, as annotated in DisGeNET, to interrogate SIGNOR (https://signor.uniroma2.it) in order to assemble disease-specific logic networks linking disease associated genes ...
47%

WormQTL HD


WormQTLHD is an online scalable system for QTL exploration to service the worm community. WormQTLHD provides many publicly available datasets and welcomes submissions from other worm researchers
45%

Mediterranean Founder Mutation Database


A comprehensive database established to offer a web-based access to founder mutation data in Mediterranean population. The database provides an overview about the spectrum of founder mutations found in Mediterranean population to the scientific commu ...
41%

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