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: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C4551714
Disease:
Rod-Cone Dystrophy 		0.020 GeneticVariation BEFREE Subjects with a Pro50Leu mutation demonstrated marked variability in expressivity from minimal abnormalities of macular function to cone-rod dystrophy. 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: C1867326
Disease:
RETINAL CONE DYSTROPHY 1 		0.020 GeneticVariation BEFREE Missense mutations in GCAP1 (Y99C, I143NT, E155G, and P50L) have been associated with autosomal dominant cone dystrophy. 15336959 2004
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: rs771261841
rs771261841
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Individual patients with atypical or recessive retinitis pigmentosa (RP) had additional heterozygous GCAP1-T114I and GCAP2 gene changes (V85M and F150C) of unknown pathogenicity. 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 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: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1867326
Disease:
RETINAL CONE DYSTROPHY 1 		0.010 GeneticVariation BEFREE A novel L151F missense mutation in the EF4 high affinity Ca2+ binding site of GCAP1 is linked to adCD in a large pedigree. 15735604 2005
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: 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: C3665342
Disease:
Progressive Cone Dystrophy 		0.010 GeneticVariation BEFREE The Tyr99Cys GUCA1A mutation has been previously shown to cause autosomal dominant progressive cone dystrophy. 15953638 2005
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: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		0.010 GeneticVariation BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098 2013
dbSNP: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098 2013
dbSNP: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C4551714
Disease:
Rod-Cone Dystrophy 		0.010 GeneticVariation BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098 2013
dbSNP: rs121434631
rs121434631
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1998028
Disease:
Photoreceptor degeneration 		0.010 GeneticVariation 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
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: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C0854723
Disease:
Retinal Dystrophies 		0.010 GeneticVariation BEFREE Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. 31804667 2019