GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
0.110 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
0.110 GeneticVariation disease BEFREE Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1. 28025326 2017
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
0.110 GeneticVariation disease CLINVAR 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