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: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 38 0.800 None 1.000 56 37 1993 2019
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.700 limited 1.000 27 1 1980 2020
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.670 None 1.000 10 1 1997 2018
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.510 None 1.000 2 1999 2002
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.500 None 1.000 17 1987 2019
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.500 limited 1.000 1 2015 2015
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.400 None 0.988 81 1993 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.400 None 1.000 49 2 1986 2020
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.400 None 1.000 28 1 2005 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.400 None 1.000 21 1992 2019
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		group Digestive System Diseases Disease or Syndrome 83 88 0.400 None 1.000 1 1 2018 2018
CUI: C3276539
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUTIS LAXA, AUTOSOMAL DOMINANT 1 		disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2006 2006
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.320 None 1.000 4 1999 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.320 limited 1.000 3 1993 2016
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.320 limited 1.000 2 2005 2012
CUI: C1305147
Disease: Congenital supravalvular aortic stenosis
Congenital supravalvular aortic stenosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 0.310 None 1.000 3 2000 2010
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.310 None 1.000 2 2003 2005
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 2 1999 2016
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: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		disease Respiratory Tract Diseases Disease or Syndrome 35 0.300 None 1.000 1 2014 2014
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 14 3 0.300 None 1.000 1 2014 2014
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2018 2018
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.300 None 1.000 1 2003 2003
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