GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1865869
Disease:
CONE DYSTROPHY 3 (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1865869
Disease:
CONE DYSTROPHY 3 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1865869
Disease:
CONE DYSTROPHY 3 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1865869
Disease:
CONE DYSTROPHY 3 (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0271097
Disease:
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0730292
Disease:
Macular dystrophy 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0730292
Disease:
Macular dystrophy 		G 0.700 GeneticVariation CLINVAR 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
dbSNP: rs104893967
rs104893967
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR 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
dbSNP: rs1554186385
rs1554186385
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR