TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0234378
Disease: Static Tremor
Static Tremor 		0.100 Biomarker phenotype HPO
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		0.100 Biomarker phenotype HPO
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		0.100 Biomarker phenotype HPO
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		0.100 Biomarker phenotype HPO
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		0.100 Biomarker phenotype HPO
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		0.100 Biomarker phenotype HPO
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.720 Biomarker disease CLINGEN Conversion of L-tyrosine to 3,4-dihydroxyphenylalanine by cell-free preparations of brain and sympathetically innervated tissues. 5836553 1964
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 Biomarker disease RGD Although TH, AAD and GAD were significantly decreased in the cortex of treated animals, the reduction was not correlated with the development of the electroclinical patterns of epilepsy. 19605093 1978
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.400 Biomarker disease BEFREE In vitro translation of human pheochromocytoma messenger RNAs: characterization of tyrosine-hydroxylase and dopamine-beta-hydroxylase. 2864960 1985
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.100 Biomarker disease BEFREE In vitro translation of human pheochromocytoma messenger RNAs: characterization of tyrosine-hydroxylase and dopamine-beta-hydroxylase. 2864960 1985