PDE6C, phosphodiesterase 6C, 5146

N. diseases: 37; N. variants: 30
Disease: Atrophoderma maculatum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.010 GeneticVariation disease BEFREE Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). 25605338 2015