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: C0034091
Disease: Pulmonary Veno-Occlusive Disease (disorder)
Pulmonary Veno-Occlusive Disease (disorder) 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 11 1 0.700 strong 1.000 12 2014 2020
CUI: C0340548
Disease: Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis 		disease Neoplasms; Cardiovascular Diseases Disease or Syndrome 5 2 0.660 strong 1.000 7 2 2014 2019
CUI: C0340848
Disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE 		disease Neoplasms; Respiratory Tract Diseases Disease or Syndrome 1 26 0.600 strong 1.000 4 26 2014 2018
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.520 strong 1.000 4 2015 2018
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.440 strong 1.000 5 2015 2019
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.440 strong 1.000 5 2015 2019
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.310 strong 1.000 2 2017 2018
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.300 None 1.000 1 2011 2011
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.300 None 1.000 1 2014 2014
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.300 None 1.000 1 2011 2011
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2011 2011
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.300 None 1.000 1 2011 2011
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 strong 1.000 1 2018 2018
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.300 None 1.000 1 2015 2015
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 8 3 0.100 None 1.000 12 1 2014 2020
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 3 2 2016 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 2 2017 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.100 None 1.000 2 1 2016 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 2 2 2016 2019
CUI: C0201983
Disease: Dehydroepiandrosterone sulfate measurement (procedure)
Dehydroepiandrosterone sulfate measurement (procedure) 		phenotype Laboratory Procedure 18 27 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2014 2014
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017