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 CLINGEN We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene. 23036342

2012

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: 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 Biomarker CLINGEN We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115

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 GENOMICS_ENGLAND We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 GeneticVariation UNIPROT We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115

2000

Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.940 GermlineCausalMutation ORPHANET We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115

2000

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 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: 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 CTD_human

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: 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: 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
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: 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: 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