rs137852865, HPD

N. diseases: 1
Disease: Tyrosinemia, Type III ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tyrosinemia, Type III
CUI: C0268623
Disease: Tyrosinemia, Type III
0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115 2000
Tyrosinemia, Type III
CUI: C0268623
Disease: Tyrosinemia, Type III
0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. 11073718 2000
Tyrosinemia, Type III
CUI: C0268623
Disease: Tyrosinemia, Type III
0.800 CausalMutation CLINVAR