Gene: PRPH2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 GeneticVariation disease CLINVAR Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 22183351 2012
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 GeneticVariation disease CLINVAR Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. 15779916 2005
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 GeneticVariation disease CLINVAR Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 14557183 2003
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 GeneticVariation disease BEFREE This is known to contain the RDS gene, which is associated with dominant cone-rod dystrophy. 9425234 1998
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 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