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: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 2 0.310 None 1.000 1 2012 2012
CUI: C0917730
Disease: Female sterility
Female sterility
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 28 0.300 None 1.000 1 2013 2013
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2011 2011
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.300 None 1.000 1 2010 2010
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: C2936351
Disease: Fibroatheroma
Fibroatheroma
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.300 None 1.000 1 2018 2018
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2011 2011
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium
disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.300 None 1.000 1 2011 2011
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: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell
disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2011 2011
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2011 2011
CUI: C0021361
Disease: Female infertility
Female infertility
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 37 2 0.300 None 1.000 1 2013 2013
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
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.300 None 1.000 1 2013 2013
CUI: C0264956
Disease: Atheroma
Atheroma
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 2018 2018
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2011 2011
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: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.300 None 1.000 1 2013 2013
CUI: C0038279
Disease: Sterility, Postpartum
Sterility, Postpartum
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 28 0.300 None 1.000 1 2013 2013
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012