Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease BEFREE Therefore, in order to evaluate the pathology of this dominant disorder, we have introduced a point mutation into the murine Guca1a gene that causes an E155G amino acid substitution; this is one of the disease-causing mutations found in COD3 patients. 21464903 2011
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. 19459154 2009
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 15735604 2005
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 15790869 2005
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. 15505030 2004
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 Biomarker disease BEFREE Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3). 11484154 2001
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3). 11484154 2001
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease 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
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease UNIPROT Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). 11108966 2000
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 GeneticVariation disease 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
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 CausalMutation disease CLINVAR
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 Biomarker disease CTD_human
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
0.720 Biomarker disease GENOMICS_ENGLAND