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GENE - TERM ANNOTATION REPORT

RGD ID: 11239
Species: Mus musculus
RGD Object: Gene
Symbol: Rho
Name: rhodopsin
Acc ID: DOID:0110862
Term: congenital stationary night blindness autosomal dominant 1
Definition: A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7846071 "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)
Rho ISORHO (Homo sapiens)7240710OMIM  
Rho ISORHO (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Rho ISORHO (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATEDPMID:10521250 PMID:10967073 PMID:11139241 PMID:11879142 PMID:12091393 PMID:12860986 PMID:12871954 PMID:1418997 PMID:14769795 PMID:14971589 PMID:15126168 PMID:15509574 PMID:16123440 PMID:17488458 PMID:18175313 PMID:18987202 PMID:1987955 PMID:1987956 PMID:19913029 PMID:19933196 PMID:20591486 PMID:20805032 PMID:21094163 PMID:21219898 PMID:2137202 PMID:22110080 PMID:22164218 PMID:22321012 PMID:22323724 PMID:2239971 PMID:22995991 PMID:24760071 PMID:24853414 PMID:2509724 PMID:25097241 PMID:25741868 PMID:26202387 PMID:26962691 PMID:27458239 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30240733 PMID:30718709 PMID:30977563 PMID:31054281 PMID:31319082 PMID:33347869 PMID:33669941 PMID:36909829 PMID:7846071 PMID:7981701 PMID:8081400 PMID:8088850 PMID:8107847 PMID:8317502 PMID:8358437 PMID:9050844 PMID:9380676 PMID:9618546 PMID:9810568 PMID:9888392
Rho IAGP 13592920MouseDOOMIM:610445 
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