External Data Sources

myPhenoDB draws data from a number of external sources to help with analysis and identifier mappings.

External Data Sources
HGNC - HUGO Gene Nomenclature Committee Gene Name / Entrez Gene ID / Ensembl Gene ID / Uniprot mappings
OMIM - Online Mendelian Inheritance in Man Online Mendelian Inheritance in Man
Human Phenotype Ontology Feature definitions and mappings
MGI Mouse Genome Informatics
MouseMine MouseMine
GTEx Expression data
GeneCards The Human Gene Compendium
ClinVar ClinVar
Annual Clinical Genetics Meeting - ACMG Incidental findinds
Genic Intolerance RVIS (Residual Variation Intolerance Score)
CADD - Combined Annotation Dependent Depletion CADD Scores
GeneImprint Gene Imprinting
GWAS Catalog GWAS Catalog
VISTA Enhancer VISTA Enhancer
TraP TraP Scores
Elements of Morphology For feature images
ICHPT For PhenoDB ID to HPO ID mappings and HPO feature definitions
OpenBioinformatics ANNOVAR conversion software