Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 18915856
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mbd5
Name: methyl-CpG binding domain protein 5
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mbd5 ISOMBD5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:17847001 PMID:21981781 PMID:23055267 PMID:23422940 PMID:23587880 PMID:25741868 PMID:26350204 PMID:26467025 PMID:27222293 PMID:28008202 PMID:28492532 PMID:30763456 PMID:33912662
Go Back to source page   Continue to Ontology report