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: C1566050
Disease: Icterus Gravis Neonatorum
Icterus Gravis Neonatorum
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
Stage III Hepatocellular Carcinoma AJCC v7
disease Neoplastic Process 1 0.010 None 1.000 1 2013 2013
CUI: C1565887
Disease: Newborn physiological jaundice
Newborn physiological jaundice
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom 2 0.300 None 1.000 1 2012 2012
CUI: C0856687
Disease: Infection caused by Trichinella
Infection caused by Trichinella
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0410445
Disease: Osteomalacia secondary to drug
Osteomalacia secondary to drug
disease Disease or Syndrome 4 0.020 None 1.000 2 2005 2006
CUI: C0596028
Disease: Overjet, Dental
Overjet, Dental
phenotype Stomatognathic Diseases Anatomical Abnormality 4 0.010 None 1.000 1 2018 2018
CUI: C1333034
Disease: Chronic Cancer Pain
Chronic Cancer Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 1 0.010 None 1.000 1 2012 2012
CUI: C0015697
Disease: Arterial Fatty Streak
Arterial Fatty Streak
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5 0.300 None 1.000 1 2018 2018
CUI: C0264956
Disease: Atheroma
Atheroma
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 2018 2018
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic
phenotype Pathological Conditions, Signs and Symptoms Body Substance 5 0.300 None 1.000 1 2018 2018
CUI: C3160891
Disease: Hormone-dependent prostate cancer
Hormone-dependent prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 6 0.010 None 1.000 1 2010 2010
CUI: C0009090
Disease: Cluttering
Cluttering
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 0.010 None 1.000 1 2017 2017
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.300 None 1.000 1 2018 2018
CUI: C0014347
Disease: Enterobacteriaceae Infections
Enterobacteriaceae Infections
group Infections Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1834304
Disease: AMYOTROPHY, HEREDITARY NEURALGIC
AMYOTROPHY, HEREDITARY NEURALGIC
disease Nervous System Diseases Disease or Syndrome 9 8 0.010 None 1.000 1 2018 2018
CUI: C4552482
Disease: CSSSI
CSSSI
disease Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 9 0.090 None 1.000 9 2005 2014
CUI: C0679309
Disease: physical symptom
physical symptom
phenotype Sign or Symptom 10 0.010 None 1.000 1 2017 2017
Epidermolysis Bullosa Simplex Superficialis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 4 0.020 None 1.000 2 2007 2014
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation
disease Disease or Syndrome 12 4 0.010 None 1.000 1 2019 2019
CUI: C1305740
Disease: Overbite
Overbite
disease Stomatognathic Diseases Anatomical Abnormality 13 5 0.010 None 1.000 1 2018 2018
CUI: C0730321
Disease: Punctate inner choroidopathy
Punctate inner choroidopathy
disease Eye Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C2987120
Disease: Intramucosal Adenocarcinoma
Intramucosal Adenocarcinoma
disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C0008039
Disease: Cheyne-Stokes Respiration
Cheyne-Stokes Respiration
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 16 0.010 None 1.000 1 2019 2019