Source: UNIPROT

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 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 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