Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85015
Gene Symbol: USP45
USP45
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.310 GermlineCausalMutation ORPHANET Biallelic mutations in <i>USP45,</i> encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. 30573563

2019