Disease: Leber Congenital Amaurosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. 28272537 2017