GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		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
CUI: C0456909
Disease: Blindness
Blindness 		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