GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: Progressive cone dystrophy (without rod involvement) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.300 GermlineCausalMutation disease ORPHANET Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 15735604 2005
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.300 GermlineCausalMutation disease ORPHANET 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