Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.610 CausalMutation disease CLINVAR
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.610 GermlineCausalMutation disease ORPHANET This is the first report of a GUCY2D mutation causing CACD and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies. 22695961 2012
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.380 GermlineCausalMutation disease ORPHANET Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 14557183 2003
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.300 GermlineCausalMutation disease ORPHANET We conclude that GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy. 28125083 2017