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: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
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: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		phenotype Finding 7 2 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.010 None < 0.001 1 2019 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None < 0.001 1 1 2010 2010
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: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 36 9 0.010 None < 0.001 1 1997 1997
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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None < 0.001 1 2011 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None < 0.001 1 1993 1993
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.020 None 0.500 2 1995 1996
CUI: C0026552
Disease: Morphine Dependence
Morphine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 44 0.020 None 0.500 2 2017 2018
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.020 None 0.500 2 1 1998 2010
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.090 None 0.556 9 1991 1999
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.090 None 0.556 9 1991 1999
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.090 None 0.556 9 1991 1999