Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 30319355

2018
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 30319355

2018
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. 27475985

2016
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. 27475985

2016
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. 26253563

2015
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. 25477517

2015
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 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: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930

2011
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930

2011
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR A similar effect was observed with another LCA-related mutation, R768W, in the same domain of RetGC1. 20050595

2010
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 17724218

2007
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 17724218

2007
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 17724218

2007
dbSNP: rs61750168
rs61750168
GUCY2D
T 0.800 CausalMutation CLINVAR Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 16505055

2006
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. 15123990

2004
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. 15123990

2004
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. 12365911

2002
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. 12365911

2002
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Mutational analysis and clinical correlation in Leber congenital amaurosis. 11035546

2000
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Mutational analysis and clinical correlation in Leber congenital amaurosis. 11035546

2000
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 9888789

1999
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 9888789

1999
dbSNP: rs61749755
rs61749755
GUCY2D
0.800 GeneticVariation UNIPROT Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 8944027

1996
dbSNP: rs61750168
rs61750168
GUCY2D
0.800 GeneticVariation UNIPROT Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 8944027

1996