TH, tyrosine hydroxylase, 7054

N. diseases: 51; N. variants: 62
Source: CURATED ×
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: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		disease Nervous System Diseases Disease or Syndrome 1 56 0.720 definitive 1.000 35 52 1964 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 30 6 0.700 None 1.000 2 1992 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 85 321 0.600 None 0.979 1 1989 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 190 233 0.580 None 0.900 1 1998 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 254 0.500 None 0.800 5 2002 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.500 None 1.000 3 2011 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 86 61 0.500 None 1.000 1 6 1989 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 477 552 0.400 None 0.600 5 1990 2002
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 168 218 0.400 None 0.600 5 1990 2014
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 3 26 0.400 None 1.000 2 1995 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 47 166 0.400 None 0.950 1 1989 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 19 149 0.400 None 1.000 1 1985 2016
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 17 9 0.400 None 1.000 1 2004 2004
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 268 231 0.360 None 0.600 5 1994 2005
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		disease Disease or Syndrome 1 0.350 None 1.000 1 1995 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 27 0.350 None 1.000 1 1994 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 243 1103 0.330 None 1.000 4 1991 2019
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease Nervous System Diseases Disease or Syndrome 30 0.330 None 1.000 2 1991 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 22 16 0.330 None 0.750 1 2006 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 289 7 0.320 None 0.800 5 2000 2014
CUI: C0007370
Disease: Catalepsy
Catalepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 15 0.320 None 1.000 2 1998 2018
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 17 0.320 None 1.000 1 1989 2004
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 259 88 0.310 None 1.000 4 1991 2013
CUI: C0011206
Disease: Delirium
Delirium 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 0.310 None 1.000 2 1998 2005
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		disease Mental Disorders Mental or Behavioral Dysfunction 9 0.310 None 1.000 1 1991 1991