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: C4021084
Disease: Aplasia of optic nerve
Aplasia of optic nerve 		phenotype Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2010 2010
CUI: C0037205
Disease: Sirenomelia
Sirenomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 0.010 None 1.000 1 2011 2011
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 12 1 0.010 None 1.000 1 2006 2006
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 332 0.300 None 1.000 1 2006 2006
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 0.300 None 1.000 1 2006 2006
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 51 1 0.220 None 1.000 3 2008 2012
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.300 None 1.000 1 2008 2008
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 79 4 0.010 None 1.000 1 2000 2000
CUI: C0016382
Disease: Flushing
Flushing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 83 9 0.010 None 1.000 1 2012 2012
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2008 2008
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2008 2008
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2008 2008
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2008 2008
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2008 2008
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2006 2006
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.020 None 0.500 2 2006 2006
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7 0.020 None 1.000 2 2011 2018
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2019 2019
CUI: C0275524
Disease: Coinfection
Coinfection 		phenotype Infections Disease or Syndrome 252 11 0.010 None 1.000 1 2004 2004
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 2002 2002
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.020 None 1.000 2 2017 2019
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.020 None 1.000 2 2002 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2017 2017