Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.300 GermlineCausalMutation ORPHANET Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. 28272537

2017