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: C4285705
Disease: Pulmonary artery occlusion
Pulmonary artery occlusion 		disease Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C4489482
Disease: Aneurysm or dissection
Aneurysm or dissection 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		disease Disease or Syndrome 2 12 0.700 strong 1.000 6 12 1991 2016
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 5 0.300 None 1.000 2 2006 2009
CUI: C0432336
Disease: Cutis laxa, recessive, type I
Cutis laxa, recessive, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 1.000 2 2006 2009
CUI: C2315541
Disease: Diverticulum of renal calyx
Diverticulum of renal calyx 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.100 None 0
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.020 None 1.000 2 1 2009 2015
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
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm 		disease Respiratory Tract Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C1305122
Disease: Thoracoabdominal aortic aneurysm, ruptured
Thoracoabdominal aortic aneurysm, ruptured 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis 		disease Disease or Syndrome 5 0.100 None 0
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla 		phenotype Finding 5 1 0.100 None 0
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.010 None < 0.001 1 2002 2002
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		phenotype Finding 12 1 0.100 None 0
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 13 1 0.200 None 0
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		disease Cardiovascular Diseases Congenital Abnormality 16 19 0.010 None 1.000 1 2012 2012
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.070 None 1.000 7 2006 2018
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C1258215
Disease: Ileus
Ileus 		disease Digestive System Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C0741949
Disease: Cardiovascular Pathology
Cardiovascular Pathology 		disease Disease or Syndrome 23 0.010 None 1.000 1 2010 2010