HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
Disease: Tyrosinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 GeneticVariation disease BEFREE The enzyme, 4-hydroxyphenylpyruvate dioxygenase (HPD), is critical to tyrosine metabolism; its deficiency can cause tyrosinemia. 31277952 2019
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease BEFREE We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting. 30297903 2018
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 AlteredExpression disease BEFREE Research discovered that NTBC caused tyrosinaemia which was due to inhibition of the enzyme 4-hydroxyphenylpyruvate dioxygenase in both mammals and plants thereby finding a novel target for killing plants. 28755195 2017
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 GeneticVariation disease BEFREE Mutations in the human HPD gene (encoding 4-hydroxyphenylpyruvic acid dioxygenase) cause hereditary tyrosinemia type 3 (HT3). 16896227 2006
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease HPO
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease CTD_human