RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 CausalMutation disease CLINVAR Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. 21094163 2011
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 CausalMutation disease CLINVAR Rod photoreceptor temporal properties in retinitis pigmentosa. 21219898 2011
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		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
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		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
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 GeneticVariation disease UNIPROT A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. 9888392 1999
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		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
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 GeneticVariation disease UNIPROT Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. 7846071 1995
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 CausalMutation disease CLINVAR Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 8088850 1994
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 GeneticVariation disease UNIPROT Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 8107847 1994
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 CausalMutation disease CLINVAR Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 7981701 1994
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 GeneticVariation disease UNIPROT Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 8358437 1993
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 Biomarker disease MGD
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		0.900 Biomarker disease CTD_human