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GENE - TERM ANNOTATION REPORT

RGD ID: 11749759
Species: Pan paniscus
RGD Object: Gene
Symbol: PROM1
Name: prominin 1
Acc ID: DOID:0111005
Term: cone-rod dystrophy 2
Definition: A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9390563 "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)
PROM1 ISOPROM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30588538
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