Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5009
Gene Symbol: OTC
OTC
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.010 Biomarker BEFREE Thirty-six of 127 children with ALF had a metabolic etiology: galactosemia (17); mitochondrial respiratory chain disorder (MRCD, 7); ornithine transcarbamylase (OTC) deficiency (4); tyrosinemia type 1 (4); Niemann-Pick disease type C (NPC, 3); and congenital disorder of glycosylation type 1b (1). 25902754

2015