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GENE - TERM ANNOTATION REPORT

RGD ID: 70075
Species: Homo sapiens
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 IAGP 7240710OMIM  
GRM6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVEPMID:25741868 PMID:28492532
GRM6 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:16622103 PMID:22008250 PMID:25741868 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:16622103 PMID:22008250 PMID:25307992 PMID:25741868 PMID:26628857 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:19862333 PMID:22735794 PMID:25741868 PMID:28492532
GRM6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:25741868
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:25741868 PMID:26667666 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:11874764 PMID:15781871 PMID:16622103 PMID:22008250 PMID:25741868 PMID:28492532 PMID:30718709
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:17405131 PMID:19666700 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:16622103 PMID:22008250 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:17405131 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:16249515 PMID:17405131 PMID:19666700 PMID:28041643 PMID:28492532 PMID:32531858
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:16249515 PMID:17405131 PMID:19666700 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:17405131 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVEPMID:15781871 PMID:19578023 PMID:25741868 PMID:26667666 PMID:28492532
GRM6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness 1BPMID:15781871 PMID:16249515 PMID:16622103 PMID:22008250 PMID:28492532
GRM6 ISSGrm6 (Mus musculus)13592920MouseDOOMIM:257270 
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