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GENE - TERM ANNOTATION REPORT

RGD ID: 8984561
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Grm6
Name: glutamate metabotropic receptor 6
Acc ID: DOID:0110865
Term: congenital stationary night blindness 1B
Definition: A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15781871 "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)
Grm6 ISOGRM6 (Homo sapiens)7240710OMIM  
Grm6 ISOGRM6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVEPMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19578023 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25307992 PMID:25741868 PMID:26628857 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30718709 PMID:32531858
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