PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Hereditary macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.030 GeneticVariation disease BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438 2009
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.030 GeneticVariation disease BEFREE Different macular dystrophy phenotypes according to the mutations in peripherin/RDS are shown. 17653047 2007
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.030 GeneticVariation disease BEFREE Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. 8602784 1996