×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
GeneticVariation
disease
UNIPROT
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
19459154
2009
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
GeneticVariation
disease
UNIPROT
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
15735604
2005
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
GeneticVariation
disease
UNIPROT
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
15790869
2005
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
GeneticVariation
disease
UNIPROT
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
15505030
2004
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
GeneticVariation
disease
UNIPROT
Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).
11108966
2000
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
CausalMutation
disease
CLINVAR
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.720
Biomarker
disease
CTD_human
×
Entrez Id:
169522
Gene Symbol:
KCNV2
KCNV2
0.300
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2980
Gene Symbol:
GUCA2A
GUCA2A
0.010
GeneticVariation
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