GNAT2, G protein subunit alpha transducin 2, 2780

N. diseases: 48; N. variants: 16
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 GeneticVariation disease BEFREE Since mutations in the CNGA3 gene may cause a variety of retinal dystrophies (complete and incomplete achromatopsia and progressive cone dystrophy), GNAT2 mutations may also prove to be implicated in other forms of retinal dystrophy with cone dysfunction. 12205108 2002