POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
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: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 68 2 0.010 None 1.000 1 2017 2017
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 2020 2020
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.030 None 1.000 3 2001 2014
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 1.000 1 2006 2006
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.310 None 1.000 5 1979 2011
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.010 None 1.000 1 2004 2004
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 19 12 0.010 None 1.000 1 2010 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.400 None 1.000 49 1980 2020
CUI: C1337011
Disease: Well Differentiated Pancreatic Endocrine Tumor
Well Differentiated Pancreatic Endocrine Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.030 None 1.000 3 2017 2019
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 2 1974 1984
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.300 None 1.000 2 1992 2000
CUI: C0233612
Disease: Waxy flexibility
Waxy flexibility 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 0.300 None 1.000 2 1984 1986
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 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 0.030 None 1.000 3 2008 2019
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.030 None 1.000 3 2008 2019
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 6 1982 1991
CUI: C0234245
Disease: Visceral Pain
Visceral Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 58 0.010 None 1.000 1 2003 2003
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.020 None 1.000 2 2008 2018
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis 		group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.010 None 1.000 1 2008 2008
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 6 1982 1991
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.010 None 1.000 1 2003 2003
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 2003 2003
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.010 None 1.000 1 2009 2009
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 2 0.010 None 1.000 1 2006 2006