Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GermlineCausalMutation ORPHANET In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified mutations in 17 genes and all 23 coding exons for the other 3 genes (GUCY2D, PRPH2 and KCNV2), were analyzed by cycle sequencing on 130 unrelated probands with CORD. 23563732

2013
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GermlineCausalMutation ORPHANET RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. 9279751

1997