DisGeNET - a database of gene-disease associations

GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C1865869
Disease:

CONE DYSTROPHY 3 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

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:

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:

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

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

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:

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:

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:

rs104893967

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C0730292
Disease:

Macular dystrophy

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

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C0035334
Disease:

Retinitis Pigmentosa

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

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C1867326
Disease:

RETINAL CONE DYSTROPHY 1

0.030

GeneticVariation

BEFREE

We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy.

9425234

1998

dbSNP:

rs104893967

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C1867326
Disease:

RETINAL CONE DYSTROPHY 1

0.030

GeneticVariation

BEFREE

Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1.

11108966

2000

dbSNP:

rs104893967

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C1867326
Disease:

RETINAL CONE DYSTROPHY 1

0.030

GeneticVariation

BEFREE

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.

9702199

1998

dbSNP:

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:

rs104893968

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C1865869
Disease:

CONE DYSTROPHY 3 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

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

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

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:

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:

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:

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:

rs104893968

Entrez Id:	2978
Gene Symbol:	GUCA1A

GUCA1A

CUI:	C0271097
Disease:

Usher Syndrome

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019