Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
0.020 GeneticVariation phenotype BEFREE Instead, GCAP1 and GCAP2 bind with the cyclase molecule in a mutually exclusive manner using a common or overlapping binding site(s) in the Arg(488)-Arg(851) portion of RetGC1, and mutations in that region causing Leber congenital amaurosis blindness disrupt activation of the cyclase by both GCAP1 and GCAP2. 25616661 2015
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
0.020 GeneticVariation phenotype BEFREE They play a fundamental role in light adaptation by coupling the rate of cGMP synthesis to the intracellular concentration of calcium.Mutations in GCAPs lead to blindness. 25058152 2014