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GENE - TERM ANNOTATION REPORT

RGD ID: 12405184
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: IMPDH1
Name: inosine monophosphate dehydrogenase 1
Acc ID: DOID:0110388
Term: retinitis pigmentosa 10
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11875050 "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)
IMPDH1 ISOIMPDH1 (Homo sapiens)7240710OMIM  
IMPDH1 ISOIMPDH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16384941 PMID:16671097 PMID:21791244 PMID:25741868 PMID:26720483 PMID:28492532 PMID:28945494 PMID:33090715
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