Gene: RHO ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease HPO
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE <i>Casp7</i> knockout mice were crossed to two different RP mouse models with significantly different rod and cone death kinetics: the <i>rd1</i> mouse model, which carries a mutation in the <i>Pde6b</i> gene, and the rhodopsin knockout mouse model (<i>Rho-KO</i> or <i>Rho<sup>-/-</sup></i> ). 29296074 2017
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE 160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa. 9748691 1998
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE 25%-30% of RP cases are caused by inherited autosomal dominant (ad) mutations in the rhodopsin (Rho) protein of the retina, which impose a barrier for developing therapeutic treatments for this genetically heterogeneous disorder, as simple gene replacement is not sufficient to overcome dominant disease alleles. 29232624 2018
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes. 12359230 2002
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE 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 		0.700 GeneticVariation disease BEFREE Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. 17014888 2006
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Retinitis pigmentosa (RP) is a degenerative retinal disease, often caused by mutations in the G-protein-coupled receptor rhodopsin. 31556794 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. 7747760 1994
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinopathies, some of which have been shown to result from mutations in two different known retinal genes, rhodopsin (3q) and peripherin-rds (6p). 7951236 1994
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease LHGDN Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. 16049034 2005
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease BEFREE Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. 16049034 2005
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Rhodopsin (RHO) and peripherin/RDS are the two most common mutated genes in AD RP in several series. 19958124 2009
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Rhodopsin mutant Y136X, a dominant mutation that causes late-onset RP with a very mild pathology, also gave lower mRNA levels. 26416182 2016
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease BEFREE Rhodopsin and visual threshold in retinitis pigmentosa. 681133 1978
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease CLINVAR A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. 1301135 1992
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE A marked variation in the extent of retinal degeneration can be seen in two relatives with retinitis pigmentosa and rhodopsin, Pro23His. 12140048 2002
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. 8358437 1993
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease CTD_human A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 2137202 1990
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 2137202 1990
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE A total of 103 mutations in rhodopsin are linked to RP to date, and the phenotypes range from severe to asymptomatic. 21094163 2011
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 Biomarker disease BEFREE Adult wild-type (WT) mice and mice carrying rhodopsin deficiency (Rho-/-), a frequently used mouse model of human retinitis pigmentosa, were selected for investigation. 31618423 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa. 21352497 2011
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.700 GeneticVariation disease BEFREE Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa. 12646201 2003