COMT, catechol-O-methyltransferase, 1312

N. diseases: 82; N. variants: 6
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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 16 2 0.600 None 0.929 1 1996 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 2 0.420 None 1.000 1 2006 2018
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 4 0.400 None 1.000 1 2007 2020
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 16 2 0.600 None 0.900 1 1996 2012
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.500 None 1.000 1 1996 1996
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 10 2 0.300 None 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 10 0.360 None 1.000 0 2001 2011
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 9 0.300 None 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 2014 2014
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2016 2016
CUI: C2750088
Disease: HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 		disease Finding 3 0.300 None 1.000 1 2009 2009
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		disease Finding 6 52 0.300 limited 1.000 1 2017 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 477 552 0.700 None 1.000 6 1997 2019
CUI: C0001723
Disease: Affective Disorders, Psychotic
Affective Disorders, Psychotic 		group Mental Disorders Mental or Behavioral Dysfunction 5 0.350 None 1.000 5 2007 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 254 0.400 None 1.000 5 1983 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 289 7 0.500 None 1.000 5 1983 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 259 88 0.400 None 1.000 5 1998 2019
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 168 218 0.400 None 0.800 5 1982 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 243 1103 0.400 None 1.000 5 2004 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.500 None 0.887 4 1984 2020
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		disease Mental Disorders Mental or Behavioral Dysfunction 79 0.510 None 0.500 3 2002 2006
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 30 5 0.400 None 1.000 3 2005 2016
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 139 5 0.520 None 1.000 3 2008 2010
CUI: C0233477
Disease: Dysphoric mood
Dysphoric mood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.320 None 1.000 2 2004 2006
CUI: C3160814
Disease: Cannabis use
Cannabis use 		disease Mental or Behavioral Dysfunction 6 30 0.400 None 1.000 2 2005 2019