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: 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 31 2 0.360 None 1.000 6 1 2001 2011
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 12 0.300 None 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 1 2019 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 1.000 41 1 1983 2019
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 10 0.010 None 1.000 1 2004 2004
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease Respiratory Tract Diseases Congenital Abnormality 32 0.100 None 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease Finding 13 1 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease Finding 40 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0234238
Disease: Ache
Ache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2010 2010
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0184567
Disease: Acute onset pain
Acute onset pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 53 6 0.010 None 1.000 1 3 2014 2014
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: C0085281
Disease: Addictive Behavior
Addictive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.050 None 1.000 5 3 2004 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 1 2013 2013
CUI: C0338999
Disease: Adolescent - emotional problem
Adolescent - emotional problem 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2018 2018
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2012 2012
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2003 2003
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2005 2005
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 370 39 0.010 None 1.000 1 2005 2005