×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
Sixteen different mutations in the guanylate cyclase activator 1A gene (<i>GUCA1A</i>), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP).
28442884
2017
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
GCAP1 mutations associated with autosomal dominant cone dystrophy .
20238026
2010
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
A novel GCAP1 (N104K ) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy .
18706439
2008
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
Missense mutations in GCAP1 (Y99C , I143NT, E155G , and P50L ) have been associated with autosomal dominant cone dystrophy .
15336959
2004
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
Identification and functional consequences of a new mutation (E155G ) in the gene for GCAP1 that causes autosomal dominant cone dystrophy .
11484154
2001
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
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
×
Entrez Id:
2978
Gene Symbol:
GUCA1A
GUCA1A
0.090
GeneticVariation
disease
BEFREE
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
0.090
GeneticVariation
disease
BEFREE
A Y99C mutation in GCAP1 has recently been found to be associated with autosomal dominant cone dystrophy .
9702199
1998
×
Entrez Id:
3000
Gene Symbol:
GUCY2D
GUCY2D
0.020
GeneticVariation
disease
BEFREE
Autosomal dominant cone dystrophy due to GUCY2D can occur without a history in the antecedents due to a de novo mutation.
24480840
2014
×
Entrez Id:
3000
Gene Symbol:
GUCY2D
GUCY2D
0.020
GeneticVariation
disease
BEFREE
adCOD in this family is caused by a recurrent mutation in GUCY2D . adCOD can be detected in the first few years after birth in the family by fundus observation and electroretinogram recordings.
22194653
2011
×
Entrez Id:
83394
Gene Symbol:
PITPNM3
PITPNM3
0.020
GeneticVariation
disease
BEFREE
The first mutation in PITPNM3 , a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy .
20590364
2010
×
Entrez Id:
83394
Gene Symbol:
PITPNM3
PITPNM3
0.020
GeneticVariation
disease
BEFREE
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
17377520
2007
×
Entrez Id:
2185
Gene Symbol:
PTK2B
PTK2B
0.010
GeneticVariation
disease
BEFREE
Mutation in the PYK2 -binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
17377520
2007
×
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
×
Entrez Id:
1742
Gene Symbol:
DLG4
DLG4
0.010
GeneticVariation
disease
BEFREE
DLG4 maps to a region on chromosome 17p13.1 known to contain a locus for autosomal dominant cone dystrophy 5.
10582582
1999