Condition: Retinal cone dystrophy 2
rs1555635778 in
GUCY2D gene and
Retinal cone dystrophy 2
PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.
PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
PMID 23734073 2013 A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
PMID 12552567 2003 Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
PMID 9683616 1998 A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
PMID 21552474 2011 Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
PMID 18487367 2008 Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
PMID 9618177 1998 Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
PMID 30319355 2018 Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
PMID 22194653 2011 A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
PMID 15111605 2004 Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
PMID 18332321 2008 New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
PMID 24480840 2014 A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.
PMID 27475985 2016 Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
PMID 8944027 1996 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
PMID 20050595 2010 Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.
PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.
PMID 23035049 2013 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.
PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.
PMID 11328726 2001 Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).