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: C1274648
Disease: Segmental vitiligo
Segmental vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2011 2011
CUI: C0028081
Disease: Night sweats
Night sweats 		phenotype Sign or Symptom 17 0.100 None 0
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.320 None 1.000 3 1989 2004
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		disease Mental Disorders Mental or Behavioral Dysfunction 19 12 0.310 None 1.000 1 1991 1991
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 19 9 0.010 None 1.000 1 2016 2016
CUI: C0020624
Disease: Hypomenorrhea
Hypomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.010 None 1.000 1 2017 2017
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 0.100 None 0
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		phenotype Nervous System Diseases Finding 21 2 0.100 None 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		disease Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process 22 9 0.010 None < 0.001 1 2010 2010
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 1999 1999
CUI: C0001957
Disease: Alcohol Withdrawal Delirium
Alcohol Withdrawal Delirium 		disease Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 23 8 0.010 None 1.000 1 1998 1998
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 69 0.010 None 1.000 1 2017 2017
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 2003 2003
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2003 2003
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.400 None 1.000 22 4 1995 2019
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 1996 2000
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 1996 2000
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental 		disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 2 1996 2000
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 1996 2000
CUI: C1568363
Disease: Tendinosis
Tendinosis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 28 0.020 None 1.000 2 2007 2008
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 28 32 0.010 None 1.000 1 2014 2014
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		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 28 7 0.010 None 1.000 1 2003 2003
CUI: C0279627
Disease: Adult Acute Myelomonocytic Leukemia
Adult Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 1985 1985
CUI: C0279644
Disease: Childhood Acute Myelomonocytic Leukemia
Childhood Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 1985 1985
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.300 None 1.000 1 2004 2004