PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Cone-Rod Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.020 GeneticVariation disease BEFREE Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. 8912967 1996
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.020 GeneticVariation disease BEFREE Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. 8540854 1996