Gene: RHO ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. 21094163 2011
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Rod photoreceptor temporal properties in retinitis pigmentosa. 21219898 2011
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. 17488458 2007
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis. 12871954 2003
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. 9380676 1997
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 8088850 1994
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.900 CausalMutation disease CLINVAR Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 7981701 1994