COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
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: 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 111 7 0.600 None 0.929 14 1996 2008
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.400 None 0.818 11 2006 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.380 None 1.000 10 1997 2008
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 61 21 0.070 None 0.857 7 1999 2007
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
disease Nervous System Diseases Disease or Syndrome 179 65 0.060 None 0.833 6 2002 2014
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.050 None 1.000 5 2001 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.050 None 1.000 5 1999 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.430 None 1.000 4 2001 2016
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.030 None 1.000 3 2007 2012
CUI: C0011206
Disease: Delirium
Delirium
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 110 7 0.030 None 0.667 3 2011 2019
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 3 1997 2005
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.220 None 1.000 3 1984 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2010 2015
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 1037 21 0.420 None 1.000 3 2006 2018
CUI: C2215257
Disease: Acute postoperative pain
Acute postoperative pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.030 None 1.000 3 2013 2013
CUI: C0391976
Disease: Pain Disorder
Pain Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.030 None 1.000 3 2009 2014
CUI: C0009595
Disease: Obsessive-Compulsive Personality
Obsessive-Compulsive Personality
disease Mental Disorders Mental or Behavioral Dysfunction 15 2 0.030 None 1.000 3 2007 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.030 None 1.000 3 2013 2014
CUI: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders
disease Mental or Behavioral Dysfunction 15 0.030 None 0.667 3 2009 2012
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.030 None 1.000 3 2004 2008
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 3 1997 2005
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 2014 2019
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.020 None 0.500 2 2009 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2007 2014
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.020 None 1.000 2 2017 2019