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: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2015 2015
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous 		disease Digestive System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2006 2006
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2017 2017
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 2011 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2004 2004
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2012 2012
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2016 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2009 2009
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2018 2018
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2001 2001
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 1995 1995
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2015 2015
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0400821
Disease: Colitis, Microscopic
Colitis, Microscopic 		disease Digestive System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2017 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2009 2009
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 105 9 0.010 None 1.000 1 2014 2014
CUI: C1849699
Disease: Progesterone Resistance
Progesterone Resistance 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 29 0.010 None 1.000 1 2014 2014
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 9 16 0.010 None 1.000 1 2019 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2013 2013
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.010 None 1.000 1 1997 1997
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.010 None 1.000 1 2005 2005
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2017 2017
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2017 2017
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2018 2018