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: C3809198
Disease: PULMONARY HYPERTENSION, PRIMARY, 4
PULMONARY HYPERTENSION, PRIMARY, 4 		disease Disease or Syndrome 1 7 0.600 None 1.000 2 7 2013 2017
CUI: C0178272
Disease: Disorder of pulmonary circulation
Disorder of pulmonary circulation 		group Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C1867423
Disease: Increased pulmonary vascular resistance
Increased pulmonary vascular resistance 		phenotype Finding 4 0.100 None 0
CUI: C1969342
Disease: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED 		disease Respiratory Tract Diseases Disease or Syndrome 7 3 0.300 None 0
CUI: C1969343
Disease: Pulmonary Hypertension, Primary, Fenfluramine-Associated
Pulmonary Hypertension, Primary, Fenfluramine-Associated 		disease Respiratory Tract Diseases Disease or Syndrome 7 0.300 None 0
CUI: C3714844
Disease: Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia 		disease Respiratory Tract Diseases Disease or Syndrome 7 1 0.300 None 0
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 0.010 None 1.000 1 2016 2016
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease Respiratory Tract Diseases Disease or Syndrome 9 323 0.400 None 0 1
CUI: C0034091
Disease: Pulmonary Veno-Occlusive Disease (disorder)
Pulmonary Veno-Occlusive Disease (disorder) 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2016 2016
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.320 None 1.000 3 2013 2017
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2005 2005
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 2017 2017
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		phenotype Laboratory Procedure 16 28 0.100 None 1.000 1 1 2018 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.020 None 1.000 2 1997 1998
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 17 0.010 None 1.000 1 1998 1998
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2014 2014
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 23 10 0.010 None 1.000 1 2019 2019
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.640 strong 1.000 7 2013 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 30 54 0.020 None 1.000 2 2003 2005
CUI: C4054188
Disease: Ph-Like Acute Lymphoblastic Leukemia
Ph-Like Acute Lymphoblastic Leukemia 		disease Neoplastic Process 30 1 0.010 None 1.000 1 2018 2018
CUI: C0694539
Disease: Chronic atrial fibrillation
Chronic atrial fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 0.020 None 1.000 2 2015 2017
CUI: C0206525
Disease: Tuberculosis, Drug-Resistant
Tuberculosis, Drug-Resistant 		disease Infections Disease or Syndrome 37 0.010 None 1.000 1 2019 2019
CUI: C3887640
Disease: Astrocytosis
Astrocytosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 0.300 None 1.000 1 2008 2008
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 81 0.020 None 1.000 2 2014 2018
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2017 2017