Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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