PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 1
Disease: Retinal Cone Dystrophy 3B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.010 GeneticVariation disease BEFREE Mutations in PDE6H and in KCNV2 have been described in CDSRR. 18235024 2008