Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3242
Gene Symbol: HPD
HPD
0.730 GeneticVariation disease ORPHANET Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158 2007
Entrez Id: 3242
Gene Symbol: HPD
HPD
0.730 Biomarker disease GENOMICS_ENGLAND Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158 2007
Entrez Id: 3242
Gene Symbol: HPD
HPD
0.730 Biomarker disease 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
0.730 GeneticVariation disease 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
0.730 Biomarker disease CTD_human