Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation BEFREE Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns. 26226126

2016
Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation BEFREE Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria. 20677779

2010
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 BEFREE 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 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: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 CausalMutation CLINVAR