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: C4023403
Disease: Arterial intimal fibrosis
Arterial intimal fibrosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 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
CUI: C1504382
Disease: Pulmonary arterial medial hypertrophy
Pulmonary arterial medial hypertrophy 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1867421
Disease: Elevated right atrial pressure
Elevated right atrial pressure 		phenotype Finding 1 0.100 None 0
CUI: C3806932
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1
PULMONARY VENOOCCLUSIVE DISEASE 1 		disease Finding 1 4 0.400 limited 0 4
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C0520861
Disease: Raised jugular venous pressure
Raised jugular venous pressure 		phenotype Finding 1 0.100 None 0
CUI: C4280802
Disease: Pulmonary venous occlusion
Pulmonary venous occlusion 		phenotype Finding 2 0.100 None 0
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4025217
Disease: Pulmonary aterial intimal fibrosis
Pulmonary aterial intimal fibrosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C2939447
Disease: Right ventricular failure
Right ventricular failure 		disease Cardiovascular Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None < 0.001 1 2002 2002
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None < 0.001 1 2017 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None < 0.001 1 2002 2002
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.020 None 0.500 2 2013 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 0.500 2 2015 2017
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.020 None 0.500 2 2013 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.500 None 0.927 55 49 2002 2020
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.700 None 0.978 185 4 2000 2020
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease Respiratory Tract Diseases Disease or Syndrome 9 323 0.700 moderate 1.000 57 308 2000 2018
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.700 None 1.000 48 2 1997 2019
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.600 None 1.000 43 2000 2019