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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		disease Cardiovascular Diseases Disease or Syndrome 63 1 0.100 None 0
CUI: C0541767
Disease: Platelet aggregation abnormal
Platelet aggregation abnormal 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
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 2004 2004
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2004 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2004 2004
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.300 None 1.000 1 2006 2006
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.300 None 1.000 1 2006 2006
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.430 None 1.000 5 2 2008 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 7 5 2011 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 6 4 2011 2018
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		phenotype Diagnostic Procedure 35 81 0.100 None 1.000 2 2 2011 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 2 2 2011 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 1 2011 2011
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2011 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.450 None 1.000 11 5 2012 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.340 None 1.000 5 2012 2019
CUI: C1832662
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 		phenotype Finding 9 3 0.100 None 1.000 1 1 2013 2013
CUI: C0087086
Disease: Thrombus
Thrombus 		phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 1 2013 2013