APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Adenine phosphoribosyltransferase deficiency ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 11 1.000 None 1.000 23 11 1986 2016