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: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		disease Disease or Syndrome 1 5 0.700 strong 1.000 2 5 2014 2016
CUI: C4016144
Disease: MOYAMOYA 6 WITH ACHALASIA
MOYAMOYA 6 WITH ACHALASIA 		phenotype Finding 1 0.300 strong 1.000 1 2016 2016
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: C0340552
Disease: High altitude pulmonary hypertension
High altitude pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 8 1 0.300 None 1.000 1 1 2014 2014
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: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
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: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.010 None 1.000 1 2016 2016
CUI: C0087086
Disease: Thrombus
Thrombus 		phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 1 2013 2013
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		disease Digestive System Diseases Disease or Syndrome 49 5 0.120 None 1.000 2 2016 2018
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: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.300 None 1.000 1 2014 2014
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		disease Cardiovascular Diseases Disease or Syndrome 63 1 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: 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: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.120 None 1.000 2 3 2016 2017
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.300 None 1.000 1 2013 2013
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 1 2011 2011
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: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.040 None 1.000 4 2014 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 2 2 2011 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 2 2018 2018
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006