PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: Generalized progressive retinal atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521691
Disease: Generalized progressive retinal atrophy
Generalized progressive retinal atrophy 		0.020 GeneticVariation disease BEFREE Mutations in PDE6A and the PDE6B genes lead to autosomal recessive (ar) forms of retinitis pigmentosa (RP) in human and to the homologous disease in dogs, designated generalised progressive retinal atrophy (gPRA). 10782214 2000
CUI: C0521691
Disease: Generalized progressive retinal atrophy
Generalized progressive retinal atrophy 		0.020 GeneticVariation disease BEFREE Therefore, the PDE6B sequence variations did not segregate together with the mutation(s) causing gPRA. 11124530 2000