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: 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: 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: 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: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2001 2001
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None < 0.001 1 2011 2011
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None < 0.001 1 2011 2011
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2005 2005
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.010 None 1.000 1 2019 2019
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None 1.000 1 2017 2017
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 2018 2018
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.200 None 1.000 1 1986 1986
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 4 1991 2013
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 1993 1993
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None 1.000 1 2019 2019
CUI: C0040332
Disease: Tobacco Dependence
Tobacco Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 34 4 0.010 None 1.000 1 2004 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 0.010 None 1.000 1 2011 2011
CUI: C1568363
Disease: Tendinosis
Tendinosis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 28 0.020 None 1.000 2 2007 2008
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 80 16 0.010 None 1.000 1 2018 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2016 2016
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0085648
Disease: Synovial Cyst
Synovial Cyst 		disease Neoplasms Disease or Syndrome 87 0.010 None 1.000 1 2018 2018
CUI: C0438696
Disease: Suicidal
Suicidal 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29 0.020 None 1.000 2 2008 2014
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.020 None 1.000 2 2008 2014