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GENE - TERM ANNOTATION REPORT

RGD ID: 1606035
Species: Homo sapiens
RGD Object: Gene
Symbol: CFHR2
Name: complement factor H related 2
Acc ID: DOID:0110358
Term: retinitis pigmentosa 12
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10508521 "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)
CFHR2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 12PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521
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