|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
|
30319355 |
2018 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
|
27475985 |
2016 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
|
25515582 |
2014 |
|
Retinal cone dystrophy 2
|
|
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 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
As there is limited histopathological data on the CORD6 retina, our goal was to generate a CORD6 model by expressing mutant human RETGC-1 in zebrafish cone photoreceptors and to investigate effects on retinal morphology and function. cDNAs encoding wildtype and mutant (E837D R838S) RETGC-1 were cloned under the control of the cone-specific gnat2 promoter and microinjected into zebrafish embryos to generate transgenic lines.
|
23328348 |
2013 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
|
23734073 |
2013 |
|
Retinal cone dystrophy 2
|
|
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 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
|
22194653 |
2011 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
|
20517349 |
2010 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
|
18332321 |
2008 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
|
18487367 |
2008 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
|
15111605 |
2004 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
|
12552567 |
2003 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D.
|
10647719 |
2000 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family.
|
10529237 |
1999 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
|
9618177 |
1998 |
|
Retinal cone dystrophy 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
|
9683616 |
1998 |
|
Retinal cone dystrophy 2
|
|
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cone Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
|
17041576 |
2007 |
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
Two other known missense mutations of R838H and R838C were found in two other CORD families.
|
15111605 |
2004 |
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
The R838H and R838C mutations in GUCY2D cause CORD in the Japanese population.
|
15175914 |
2004 |
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D.
|
10647719 |
2000 |
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family.
|
10529237 |
1999 |
|
Cone-Rod Dystrophy 2
|
|
0.060 |
GeneticVariation
|
BEFREE |
A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy.
|
9618177 |
1998 |