OMIM External Links


Genome
Ensembl Genome databases for vertebrates and other eukaryotic species.
MITOMAP A curated repository of published and unpublished data on human mitochondrial DNA variation.
NCBI Map Viewer Invalid external label: 'NCBI Map Viewer'
UCSC UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes.

DNA
Ensembl Transcript-based views for coding and noncoding DNA.
NCBI RefSeq A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq.
UCSC UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes.

Protein
HPRD The Human Protein Reference Database; manually extracted and visually depicted information on human proteins.
Human Protein Atlas The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data.
UniProt Comprehensive protein sequence and functional information, including supporting data.

Gene Info
BioGPS The Gene Portal Hub; customizable portal of gene and protein function information.
Ensembl Orthologs, paralogs, regulatory regions, and splice variants.
GeneCards The Human Genome Compendium; web-based cards integrating automatically mined information on human genes.
Gene Ontology Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species.
HGNC HUGO Gene Nomenclature Committee.
KEGG Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways.
MARRVEL Model organism Aggregated Resources for Rare Variant ExpLoration.
Monarch Monarch Initiative.
NCBI Gene Gene-specific map, sequence, expression, structure, function, citation, and homology data.
PharmGKB Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response.
UCSC UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases.

Clinical Resources
ClinGen Dosage A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array.
ClinGen Validity A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease.
ClinicalTrials.gov A registry of federally and privately supported clinical trials conducted in the United States and around the world.
DECIPHER Database of chromosomal aberration including clinical and genomic information.
EuroGentest A list of European laboratories that offer genetic testing.
GARD Genetic and Rare Diseases Information Center; information on rare and/or genetic disorders including portal to clinician and patient resources.
Gene Reviews Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling.
Genetic Alliance Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations.
GTR Genetic Testing Registry.
OrphaNet European reference portal for information on rare diseases and orphan drugs.
Newborn Screening Information and resources for newborn screening and genetics.
POSSUM A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images.

Variation
ClinVar ClinVar aggregates information about sequence variation and its relationship to human health.
ExAC Exome Aggregation Consortium (ExAC) browser, Broad Institute.
gnomAD The Genome Aggregation Database (gnomAD), Broad Institute.
GWAS Catalog GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies.
GWAS Central GWAS Central; summary level genotype-to-phenotype information from genetic association studies.
HGMD Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms.
HGVS Human Genome Variation Society; maintains lists of and links to locus-specific mutation databases; guidelines for description of sequence variants.
inSIGHT International Society for Gastrointestinal Hereditary Tumors.
Locus Specific DBs A gene-specific database of variation.
LOVD Colon cancer gene variant databases.
NHLBI EVS National Heart, Lung, and Blood Institute Exome Variant Server.
1000 Genome 1000 Genome - A deep catalog of human genetic variation.

Animal Models
FlyBase A Database of Drosophila Genes and Genomes.
IMPC International Mouse Phenotyping Consortium.
KOMP Knockout Mouse Project Repository; mouse embryonic stem cells containing null mutations in every gene in the mouse genome.
MARRVEL Model organism Aggregated Resources for Rare Variant ExpLoration.
MGI Mouse Gene Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data.
MGI Mouse Phenotype Phenotypes, alleles, and disease models from Mouse Genome Informatics.
NCBI HomoloGene A system for automated detection of homologs among the annotated genes of several completely sequenced eukaryotic genomes.
OMIA Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)
Wormbase Gene Database of the biology and genome of Caenorhabditis elegans and related nematodes.
ZFin The Zebrafish Model Organism Database.

Cell Lines
Coriell Coriell Cell Repositories; cell cultures and DNA derived from cell cultures.

Cellular Pathways
KEGG Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways.
Reactome Protein-specific information in the context of relevant cellular pathways.