External Data Sources
Baylor-Hopkins Center for Mendelian Genomics 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 | |
miRdSNP | miRdSNP | |
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 |