Gene: GUCY2D ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 30319355

2018
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. 27475985

2016
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. 25515582

2014
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. 24480840

2014
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. 23734073

2013
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. 22194653

2011
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. 21552474

2011
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 20517349

2010
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. 18332321

2008
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. 18487367

2008
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. 15111605

2004
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 12552567

2003
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT A retGC-1 mutation in autosomal dominant cone-rod dystrophy. 9683616

1998
dbSNP: rs61750172
rs61750172
GUCY2D
0.830 GeneticVariation UNIPROT Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 9618177

1998
dbSNP: rs267606857
rs267606857
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: rs61750173
rs61750173
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: rs267606857
rs267606857
GUCY2D
0.800 GeneticVariation UNIPROT Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. 27475985

2016
dbSNP: rs61750173
rs61750173
GUCY2D
0.800 GeneticVariation UNIPROT Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. 27475985

2016
dbSNP: rs267606857
rs267606857
GUCY2D
0.800 GeneticVariation UNIPROT Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. 25515582

2014
dbSNP: rs267606857
rs267606857
GUCY2D
0.800 GeneticVariation UNIPROT A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. 24480840

2014
dbSNP: rs61750173
rs61750173
GUCY2D
0.800 GeneticVariation UNIPROT A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. 24480840

2014
dbSNP: rs61750173
rs61750173
GUCY2D
0.800 GeneticVariation UNIPROT Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. 25515582

2014
dbSNP: rs267606857
rs267606857
GUCY2D
0.800 GeneticVariation UNIPROT A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. 23734073

2013
dbSNP: rs61750173
rs61750173
GUCY2D
0.800 GeneticVariation UNIPROT A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. 23734073

2013
dbSNP: rs267606857
rs267606857
GUCY2D
0.800 GeneticVariation UNIPROT A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. 22194653

2011