Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346

2018
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 24997176

2014
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. 25515582

2014
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 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: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. 19959640

2010
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 20517349

2010
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. 17651254

2007
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. 12365911

2002
dbSNP: rs143745703
rs143745703
GUCY2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Spectrum of retGC1 mutations in Leber's congenital amaurosis. 10951519

2000