GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: Cone dysfunction syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.010 Biomarker disease BEFREE GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A. 24875811 2014