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: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.020 None 1.000 2 2017 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2006 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2008 2008
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia
disease Neoplastic Process 255 2 0.010 None 1.000 1 2002 2002
CUI: C4021084
Disease: Aplasia of optic nerve
Aplasia of optic nerve
phenotype Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2012 2012
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2012 2012
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.310 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: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.020 None 1.000 2 2006 2011
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: 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
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: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2018 2018
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.300 None 1.000 1 2008 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.300 None 1.000 1 2006 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.310 None 1.000 1 2006 2006
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.300 None 1.000 1 2008 2008
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.300 None 1.000 1 2008 2008
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: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2011 2011
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: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
disease Immune System Diseases Disease or Syndrome 447 25 0.010 None 1.000 1 2019 2019