HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 CausalMutation disease CLINVAR
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CTD_human
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 Biomarker disease CTD_human
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 CausalMutation disease CLINVAR
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease HPO
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease CTD_human
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.360 Biomarker disease CTD_human
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.300 Biomarker disease CTD_human
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0423867
Disease: Fine hair
Fine hair 		0.100 Biomarker phenotype HPO
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.100 Biomarker phenotype HPO
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		0.100 Biomarker phenotype HPO
CUI: C1848680
Disease: 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria 		0.100 Biomarker phenotype HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 Biomarker disease BEFREE Inhibition of 4-hydroxyphenylpyruvate dioxygenase may prevent the development of liver cirrhosis and abolish or diminish the risk of liver cancer. 1383656 1992
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE Inhibition of 4-hydroxyphenylpyruvate dioxygenase may prevent the development of liver cirrhosis and abolish or diminish the risk of liver cancer. 1383656 1992
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 Biomarker disease BEFREE Inhibition of 4-hydroxyphenylpyruvate dioxygenase may prevent the development of liver cirrhosis and abolish or diminish the risk of liver cancer. 1383656 1992
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 Biomarker disease BEFREE Inhibition of 4-hydroxyphenylpyruvate dioxygenase may prevent the development of liver cirrhosis and abolish or diminish the risk of liver cancer. 1383656 1992
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease MGD A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. 2014797 1991
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.080 Biomarker disease BEFREE Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease). 2716962 1989