Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 11139241

2001
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 8401533

1993
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. 1833777

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 2215617

1990