Gene: GUCY2D ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346 2018
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. 25515582 2014
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 24997176 2014
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease 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
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 20517349 2010
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 19959640 2010
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. 17651254 2007
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. 12365911 2002
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation disease CLINVAR Spectrum of retGC1 mutations in Leber's congenital amaurosis. 10951519 2000