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: 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 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 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 Biomarker CTD_human

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