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: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.020 Biomarker phenotype BEFREE <b>Discussion:</b> Be a Mom promotes the enhancement of women's emotion regulation abilities and self-compassion, and this seems to exert a protective effect in the presence of PPD risk factors (or early-onset symptoms) because it led to a reduction of depressive symptoms. 30873060 2019
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.080 Biomarker disease BEFREE Hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) shows the considerable heterogeneity of clinical phenotypic expression and a dramatic sustained response to levodopa. 15165667 2004
CUI: C0041309
Disease: Tuberculosis, Cutaneous
Tuberculosis, Cutaneous 		0.010 GeneticVariation disease BEFREE Cutaneous tuberculosis with nonreactive PPD skin test: a diagnostic challenge. 25672314 2015
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.360 AlteredExpression disease BEFREE 4-hydroxyphenylpyruvate dioxygenase activity in liver was normal, which is atypical for tyrosinemia type I. 20003495 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE HPD was not associated with higher tumor burden at baseline, nor with any specific tumor type. 27827313 2017
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.360 Biomarker disease BEFREE 4-Hydroxyphenylpyruvate dioxygenase (HPPD), converting phydroxyphenylpyruvate (HPPA) to homogentisate (HGA), is an important target for treating type I tyrosinemia and synthesizing novel herbicides due to its significant role in tyrosine catabolism. 28637410 2017