GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Source: ALL
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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE Our results indicate that the three pathogenic variants, two of which were novel, underlie AD-COD/CORD with progressive retinal atrophy, and the prevalence (0.25%, 3/1192 families) of GUCA1A-associated IRDs may be low among Japanese patients. 31728034 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE By genetically screening a family of patients diagnosed with cone-rod dystrophy, we identified a novel missense mutation with autosomal dominant inheritance pattern (c.332A>T; p.(Glu111Val); E111V from now on) in the GUCA1A gene coding for GCAP1. 30184081 2018
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GermlineCausalMutation disease ORPHANET Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 24875811 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GermlineCausalMutation disease ORPHANET The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. 23428504 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE GCAP1(L151F) and GCAP1(L151F)-GFP transgenic mice presented with a late onset and slowly progressive photoreceptor degeneration, similar to that observed in human GCAP1-CORD patients. 23472098 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. 23428504 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE In this paper, experimentally derived observations are reported that help in explaining why a proline-->leucine mutation at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation. 11136713 2001
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.370 GeneticVariation disease BEFREE 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: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.300 GermlineCausalMutation disease ORPHANET We conclude that GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy. 28125083 2017
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.300 GermlineCausalMutation disease ORPHANET Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 15735604 2005