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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 3 2016 2016
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2017 2017
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 2 2016 2016
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia 		disease Neoplastic Process 119 1 0.010 None 1.000 1 2015 2015
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.010 None 1.000 1 2018 2018
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.010 None 1.000 1 2015 2015
CUI: C1512694
Disease: Increased Cellularity Present
Increased Cellularity Present 		disease Neoplastic Process 21 0.010 None 1.000 1 2018 2018
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2010 2010
CUI: C4688007
Disease: Platinum-Resistant Ovarian Carcinoma
Platinum-Resistant Ovarian Carcinoma 		disease Neoplastic Process 41 0.010 None 1.000 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C4728046
Disease: Diabetic wound
Diabetic wound 		disease Disease or Syndrome 72 0.010 None 1.000 1 2019 2019
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 0
CUI: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 0.010 None 1.000 1 2013 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.220 None 1.000 3 2012 2017
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations 		phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.020 None 1.000 2 2019 2020
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2011 2011
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2011 2011
CUI: C0948249
Disease: Femoral artery occlusion
Femoral artery occlusion 		disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 17 2 0.010 None 1.000 1 2013 2013
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 41 14 0.030 None 1.000 3 4 2012 2018
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.080 None 0.875 8 1 2006 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 moderate 1.000 6 2006 2015
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2010 2010