ELN, elastin, 2006

N. diseases: 545; N. variants: 61
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: C0339084
Disease: Floppy lid syndrome
Floppy lid syndrome 		disease Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C1862932
Disease: ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.300 limited 1.000 1 1993 1993
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2007 2007
CUI: C0345049
Disease: Ascending aorta dilatation
Ascending aorta dilatation 		disease Anatomical Abnormality 7 0.010 None 1.000 1 2009 2009
CUI: C0024473
Disease: Magnesium Deficiency
Magnesium Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C0154307
Disease: Banti's syndrome
Banti's syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2012 2012
CUI: C0221214
Disease: Vascular ring
Vascular ring 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C0149696
Disease: Food intolerance (disorder)
Food intolerance (disorder) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 1 0.100 None 0
CUI: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		phenotype Pathologic Function 8 0.100 None 0
CUI: C0264220
Disease: Chronic disease of respiratory system
Chronic disease of respiratory system 		group Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2005 2005
CUI: C4285709
Disease: Ligamentum flavum hypertrophy
Ligamentum flavum hypertrophy 		disease Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype Anatomical Abnormality 9 9 0.100 None 0 1
CUI: C4022386
Disease: Overfriendliness
Overfriendliness 		phenotype Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4025898
Disease: Functional abnormality of male internal genitalia
Functional abnormality of male internal genitalia 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.010 None 1.000 1 2004 2004
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 11 3 0.050 None 1.000 5 1981 2007
CUI: C0010668
Disease: Cystic Adenomatoid Malformation of Lung, Congenital
Cystic Adenomatoid Malformation of Lung, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.010 None < 0.001 1 2019 2019
CUI: C0014117
Disease: Endocardial Fibroelastosis
Endocardial Fibroelastosis 		disease Cardiovascular Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2019 2019
CUI: C0332606
Disease: Elfin facies
Elfin facies 		phenotype Sign or Symptom 11 0.100 None 0
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.010 None 1.000 1 2008 2008
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 12 1 0.300 None 1.000 1 2014 2014
CUI: C2350878
Disease: Focal Emphysema
Focal Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 12 0.300 None 1.000 1 2014 2014
CUI: C3826157
Disease: Hypertension in children
Hypertension in children 		disease Disease or Syndrome 12 0.010 None 1.000 1 2019 2019