rs104893967, GUCA1A

N. diseases: 5
Disease: CONE DYSTROPHY 3 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. 19459154 2009
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 15790869 2005
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 15735604 2005
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. 15505030 2004
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 11146732 2001
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. 11484154 2001
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). 11108966 2000
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 GeneticVariation UNIPROT A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 9425234 1998
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
0.800 CausalMutation CLINVAR