Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker CTD_human

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.730 Biomarker CTD_human

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias
0.440 Biomarker CTD_human

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.360 Biomarker CTD_human

Entrez Id: 3242
Gene Symbol: HPD
HPD
Tyrosine Transaminase Deficiency Disease
0.300 Biomarker CTD_human

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.730 GeneticVariation ORPHANET A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria. 11073718

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker CLINGEN A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. 11073718

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 GeneticVariation UNIPROT A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. 11073718

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker CLINGEN A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III. 7774914

1995

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic
0.300 Biomarker CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced
0.300 Biomarker CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
0.300 Biomarker CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
Chemical and Drug Induced Liver Injury
0.300 Biomarker CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity
0.300 Biomarker CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker CLINGEN Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase. 4627454

1972

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker CLINGEN In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice. 8989996

1997

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 Biomarker GENOMICS_ENGLAND Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158

2007

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.730 GeneticVariation ORPHANET Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158

2007

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.730 Biomarker GENOMICS_ENGLAND Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158

2007

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.730 Biomarker GENOMICS_ENGLAND Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.300 Biomarker CTD_human Taken together, these novel liver toxicity biomarkers, GSTA, ARG1, and HPD, add value (both enhanced specificity and sensitivity) to the measurement of ALT alone for monitoring drug-induced liver injury in rat. 22872058

2012

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic
0.300 Biomarker CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942

2005

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.300 Biomarker CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942

2005

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced
0.300 Biomarker CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942

2005

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
0.300 Biomarker CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942

2005