Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.800 GermlineCausalMutation ORPHANET NMNAT1 mutations cause Leber congenital amaurosis. 22842227

2012