HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 11; N. variants: 6
Source: CURATED ×
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: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 5 0.940 moderate 1.000 7 5 1972 2012
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.730 None 1.000 3 2 2000 2016
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 0.440 None 1.000 0 2006 2019
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 55 0.360 None 1.000 0 2002 2019
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 404 0.300 None 1.000 2 2005 2012
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 38 0.300 None 1.000 2 2005 2012
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 2 2005 2012
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 2 2005 2012
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 1 0.300 None 1.000 2 2005 2012
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 2 2005 2012
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 18 0.300 None 0