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: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.720 GermlineCausalMutation disease ORPHANET
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 GENOMICS_ENGLAND
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype CLINVAR
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.400 Biomarker phenotype HPO
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		0.350 Biomarker disease GENOMICS_ENGLAND
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.130 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.110 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.110 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0028081
Disease: Night sweats
Night sweats 		0.100 Biomarker phenotype HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		0.100 Biomarker phenotype HPO