HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
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: 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 4 6 0.940 moderate 1.000 9 6 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 2 5 0.730 None 1.000 5 5 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 17 3 0.440 None 1.000 4 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 18 56 0.360 None 1.000 6 2002 2019
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 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 537 29 0.300 None 1.000 2 2005 2012
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 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 412 0.300 None 1.000 2 2005 2012
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic
disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 412 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 418 0.300 None 1.000 2 2005 2012
Tyrosine Transaminase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 18 0.300 None 0
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 0.941 17 1996 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
phenotype Finding 2 0.100 None 0
CUI: C1848680
Disease: 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria
phenotype Digestive System Diseases Finding 1 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype Finding 75 8 0.100 None 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
disease Nervous System Diseases Disease or Syndrome 28 33 0.080 None 1.000 8 1989 2004