TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome
disease Disease or Syndrome 2 1 0.350 None 1.000 6 1 1995 2019
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
Pseudofolliculitis barbae (disorder)
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
disease Nervous System Diseases Disease or Syndrome 4 56 0.720 definitive 1.000 45 52 1964 2018
Hyperphenylalaninemia, BH4-Deficient, B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 13 0.010 None 1.000 1 2003 2003
dopamine beta hydroxylase deficiency
disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
6-pyruvoyl-tetrahydropterin synthase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 38 0.010 None 1.000 1 1987 1987
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
disease Nervous System Diseases Disease or Syndrome 6 19 0.010 None 1.000 1 2010 2010
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid
phenotype Finding 7 2 0.100 None 0
CUI: C0008043
Disease: Chiari-Frommel Syndrome
Chiari-Frommel Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.200 None 1.000 2 2011 2015
Hyperphenylalaninemia, Non-Phenylketonuric
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.020 None 1.000 2 1987 1997
CUI: C0001546
Disease: Adjustment Disorders
Adjustment Disorders
group Mental Disorders Mental or Behavioral Dysfunction 9 4 0.010 None 1.000 1 1997 1997
CUI: C0011251
Disease: Delusional disorder
Delusional disorder
group Mental Disorders Mental or Behavioral Dysfunction 9 1 0.010 None 1.000 1 2002 2002
CUI: C0086768
Disease: Pancreatic Cholera
Pancreatic Cholera
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 1993 1993
CUI: C0155668
Disease: Old myocardial infarction
Old myocardial infarction
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 9 36 0.010 None < 0.001 1 2003 2003
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase
disease Disease or Syndrome 10 8 0.010 None 1.000 1 2020 2020
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 0.100 None 0
CUI: C3668948
Disease: Circling behavior
Circling behavior
phenotype Mental or Behavioral Dysfunction 14 0.010 None 1.000 1 2017 2017
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy
phenotype Nervous System Diseases Finding 14 5 0.100 None 0
CUI: C0233612
Disease: Waxy flexibility
Waxy flexibility
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 0.300 None 1.000 2 1998 2000
CUI: C0751088
Disease: Dyskinesia, Medication-Induced
Dyskinesia, Medication-Induced
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 15 0.300 None 1.000 1 2005 2005
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2009 2009
CUI: C2220255
Disease: Motor disturbances
Motor disturbances
phenotype Sign or Symptom 16 1 0.020 None 1.000 2 2017 2018