RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Retinitis Pigmentosa 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease BEFREE The results broaden our understanding of rhodopsin's conformational flexibility and enable therapeutic drug intervention against rhodopsin-related retinitis pigmentosa. 29555765 2018
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Mouse models of human ocular disease for translational research. 28859131 2017
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. 22252712 2012
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. 22110080 2011
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. 21224384 2011
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Severe retinal degeneration caused by a novel rhodopsin mutation. 19741247 2010
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice. 20207741 2010
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT A dual role for EDEM1 in the processing of rod opsin. 19934218 2009
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. 19960070 2009
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration. 16979686 2006
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa. 12566452 2003
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa. 9452035 1998
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 Biomarker disease MGD Retinopathy induced in mice by targeted disruption of the rhodopsin gene. 9020854 1997
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. 7633434 1995
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. 8045708 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. 8081400 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 7981701 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 8088850 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. 8076945 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. 7987326 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. 7987331 1994
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. 8317502 1993
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation disease UNIPROT Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. 8353500 1993