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: C4016802
Disease: RHABDOMYOSARCOMA, SOMATIC
RHABDOMYOSARCOMA, SOMATIC
disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C0267075
Disease: Peptic ulcer of esophagus
Peptic ulcer of esophagus
disease Digestive System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C2586050
Disease: Ulcerative esophagitis
Ulcerative esophagitis
disease Digestive System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C1849385
Disease: Rhabdomyosarcoma 1
Rhabdomyosarcoma 1
disease Neoplasms Neoplastic Process 3 0.300 None 0
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 30 96 0.010 None 1.000 1 2014 2014
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma
disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
phenotype Laboratory or Test Result 32 478 0.100 None 1.000 1 1 2009 2009
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
phenotype Laboratory Procedure 56 535 0.100 None 1.000 2 2 2009 2018
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 46 0.010 None 1.000 1 2018 2018
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 102 14 0.010 None 1.000 1 2017 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.010 None 1.000 1 1998 1998
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 121 8 0.400 None 1.000 1 1998 1998
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma
disease Neoplasms Neoplastic Process 136 5 0.100 None 0
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 146 17 0.010 None 1.000 1 2004 2004
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.010 None 1.000 1 2016 2016
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2009 2009
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.300 None 0
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.010 None 1.000 1 2017 2017
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2011 2011
Familial multiple trichoepitheliomata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2012 2012
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.020 None 1.000 2 1 1998 1998
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2011 2011
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.010 None 1.000 1 2012 2012