RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Retinitis punctata albescens (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 GeneticVariation disease BEFREE More than one hundred different mutations in the gene encoding rhodopsin are associated with a group of retinal degenerations including retinitis pigmentosa, congenital stationary night blindness and retinitis punctata albescens. 15877050 2005
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 GeneticVariation disease ORPHANET Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 GeneticVariation disease BEFREE Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 Biomarker disease CTD_human
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.720 CausalMutation disease CLINVAR