Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757823463
rs757823463
GUCY2D
C 0.700 CausalMutation CLINVAR Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 23035049

2013
dbSNP: rs757823463
rs757823463
GUCY2D
C 0.700 CausalMutation CLINVAR Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524

2007
dbSNP: rs757823463
rs757823463
GUCY2D
C 0.700 CausalMutation CLINVAR Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). 11328726

2001
dbSNP: rs757823463
rs757823463
GUCY2D
C 0.700 CausalMutation CLINVAR Spectrum of retGC1 mutations in Leber's congenital amaurosis. 10951519

2000