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: C0238045
Disease: Carotid-Cavernous Sinus Fistula
Carotid-Cavernous Sinus Fistula 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1265768
Disease: Calcified aneurysm
Calcified aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 2 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: C3898139
Disease: New or Worsening Symptom
New or Worsening Symptom 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C4703564
Disease: Aortopulmonary collateral arteries
Aortopulmonary collateral arteries 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0158623
Disease: Congenital anomaly of coronary artery
Congenital anomaly of coronary artery 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0340896
Disease: Vascular graft infection
Vascular graft infection 		disease Pathological Conditions, Signs and Symptoms; Infections; Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0340517
Disease: Atrial thrombosis
Atrial thrombosis 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
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: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability 		disease Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0001363
Disease: Acute vascular insufficiency of intestine (disorder)
Acute vascular insufficiency of intestine (disorder) 		disease Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C0265509
Disease: Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 8 0.010 None 1.000 1 2018 2018
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.010 None 1.000 1 2017 2017
CUI: C0340647
Disease: Distal aortic dissection
Distal aortic dissection 		disease Disease or Syndrome 9 1 0.010 None 1.000 1 2019 2019
CUI: C4476910
Disease: Thin-cap fibroatheroma
Thin-cap fibroatheroma 		phenotype Cardiovascular Diseases Acquired Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C0543822
Disease: Atherosclerotic occlusive disease
Atherosclerotic occlusive disease 		disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2003 2003
CUI: C1412000
Disease: Mesenteric vascular insufficiency
Mesenteric vascular insufficiency 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0003509
Disease: Aortitis
Aortitis 		disease Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2018 2018
CUI: C0752156
Disease: Dural Arteriovenous Fistula
Dural Arteriovenous Fistula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 17 2 0.020 None 1.000 2 2019 2019
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 0.020 None 1.000 2 2000 2005
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.010 None 1.000 1 2019 2019
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C0021933
Disease: Intussusception
Intussusception 		disease Digestive System Diseases Disease or Syndrome 24 1 0.010 None 1.000 1 2018 2018
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2017 2017
CUI: C0152164
Disease: Cyclical vomiting syndrome (disorder)
Cyclical vomiting syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 4 0.010 None < 0.001 1 2019 2019