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: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None < 0.001 1 2008 2008
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2007 2007
CUI: C0340288
Disease: Stable angina
Stable angina 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 144 8 0.010 None 1.000 1 2017 2017
CUI: C0340517
Disease: Atrial thrombosis
Atrial thrombosis 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		disease Cardiovascular Diseases Disease or Syndrome 100 4 0.010 None 1.000 1 2017 2017
CUI: C0752143
Disease: Intracranial Thrombosis
Intracranial Thrombosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 182 12 0.010 None 1.000 1 2017 2017
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2017 2017
CUI: C1868737
Disease: Vertebral artery hypoplasia
Vertebral artery hypoplasia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C2882221
Disease: Acute pulmonary embolism
Acute pulmonary embolism 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 42 0.010 None 1.000 1 2017 2017
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.010 None 1.000 1 2017 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2017 2017
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.010 None 1.000 1 2019 2019
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.010 None 1.000 1 2019 2019
CUI: C3898139
Disease: New or Worsening Symptom
New or Worsening Symptom 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.010 None 1.000 1 2019 2019
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.010 None 1.000 1 2004 2004
CUI: C4476910
Disease: Thin-cap fibroatheroma
Thin-cap fibroatheroma 		phenotype Cardiovascular Diseases Acquired Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2017 2017
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2019 2019
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2018 2018
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.010 None 1.000 1 1992 1992
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast 		phenotype Neoplastic Process 82 3 0.010 None 1.000 1 2005 2005
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 35 6 0.010 None 1.000 1 2019 2019
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2019 2019