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: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.400 None 1.000 21 1 2005 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 16 2002 2014
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2015 2019
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		disease Disease or Syndrome 5 11 0.100 None 1.000 2 7 2004 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2018 2018
CUI: C0340544
Disease: Pulmonary arterial hypertension induced by drug
Pulmonary arterial hypertension induced by drug 		disease Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2006 2006
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2020 2020
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 None 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2019 2019
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.010 None 1.000 1 2017 2017
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2006 2006
CUI: C3665995
Disease: Secondary pulmonary arterial hypertension
Secondary pulmonary arterial hypertension 		disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C4527152
Disease: Tricuspid Valve Regurgitation Velocity
Tricuspid Valve Regurgitation Velocity 		phenotype Sign or Symptom 9 0.010 None 1.000 1 2009 2009
CUI: C0520861
Disease: Raised jugular venous pressure
Raised jugular venous pressure 		phenotype Finding 1 0.100 None 0
CUI: C1867421
Disease: Elevated right atrial pressure
Elevated right atrial pressure 		phenotype Finding 1 0.100 None 0
CUI: C1867423
Disease: Increased pulmonary vascular resistance
Increased pulmonary vascular resistance 		phenotype Finding 4 0.100 None 0
CUI: C1867424
Disease: Pulmonary artery vasoconstriction
Pulmonary artery vasoconstriction 		phenotype Finding 1 0.100 None 0