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: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2019 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 2018 2018
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: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.010 None 1.000 1 2017 2017
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 19 12 0.020 None 0.500 2 1 2010 2012
CUI: C0406670
Disease: Vulvodynia
Vulvodynia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6 1 0.010 None 1.000 1 1 2017 2017
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.010 None 1.000 1 1 2014 2014
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 0.020 None 0.500 2 2009 2014
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.020 None 0.500 2 2009 2014
CUI: C0042693
Disease: Violence
Violence 		phenotype Mental or Behavioral Dysfunction 70 6 0.060 None 0.667 6 1 1997 2012
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.010 None 1.000 1 2011 2011
CUI: C2721589
Disease: Verbal hallucinations
Verbal hallucinations 		phenotype Sign or Symptom 2 1 0.010 None 1.000 1 1 2019 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.010 None 1.000 1 2007 2007
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 27 6 0.010 None < 0.001 1 1 2018 2018
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 0
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.090 None 0.778 9 5 2006 2018
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.400 None 1.000 33 4 1998 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2010 2015
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.100 None 0
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2019 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2019 2019