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 | |