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.
Aortic aneurysm, familial thoracic 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 26 0.700 None 1.000 16 26 2003 2017
CUI: C0019295
Disease: Inguinal Hernia, Direct
Inguinal Hernia, Direct
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 None 1.000 1 2006 2006
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 1 4 0.600 None 1.000 1 4 1998 1998
CUI: C2697933
Disease: Loeys-Dietz Syndrome Type 1
Loeys-Dietz Syndrome Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4706702
Disease: Aneurysm of left subclavian artery
Aneurysm of left subclavian artery
phenotype Anatomical Abnormality 1 0.010 None 1.000 1 2015 2015
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.350 None 1.000 5 1 1996 2011
CUI: C0574027
Disease: Vertebral artery aneurysm
Vertebral artery aneurysm
disease Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C2698016
Disease: Marfan Syndrome Type II
Marfan Syndrome Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2013 2013
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture
phenotype Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries Pathologic Function 4 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm
phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity
phenotype Finding 4 0.100 None 0
Loeys-Dietz Aortic Aneurysm Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.730 None 1.000 10 2004 2012
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 10 0.400 None 1.000 5 1 2004 2012
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel
phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 2 2005 2006
CUI: C0524812
Disease: Intracranial Hypotension
Intracranial Hypotension
disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2008 2008
CUI: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1
disease Disease or Syndrome 5 7 0.010 None 1.000 1 1 2014 2014
Eosinophilic infiltration of the esophagus
phenotype Digestive System Diseases Finding 5 0.100 None 0
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2007 2007
CUI: C0153942
Disease: Benign neoplasm of esophagus
Benign neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.300 None 0
CUI: C0154059
Disease: Carcinoma in situ of esophagus
Carcinoma in situ of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.300 None 0
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 2 0.300 None 1.000 1 2006 2006
CUI: C3889085
Disease: Ascending aortic dilatation
Ascending aortic dilatation
phenotype Anatomical Abnormality 7 0.010 None 1.000 1 2013 2013
CUI: C0007852
Disease: Cervical Migraine Syndrome
Cervical Migraine Syndrome
disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006