Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease 0.800 None 1.000 56 37 1993 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.700 limited 1.000 27 1 1980 2020
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		disease 0.670 None 1.000 10 1 1997 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype 0.510 None 1.000 2 0 1999 2002
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.500 None 1.000 17 0 1987 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 limited 1.000 1 0 2015 2015
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.400 None 0.988 81 0 1993 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease 0.400 None 1.000 49 2 1986 2020
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease 0.400 None 1.000 28 1 2005 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease 0.400 None 1.000 21 0 1992 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		group 0.400 None 1.000 1 1 2018 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C3276539
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUTIS LAXA, AUTOSOMAL DOMINANT 1 		disease 0.400 None 1.000 1 1 2006 2006
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.320 None 1.000 4 0 1999 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease 0.320 limited 1.000 3 0 1993 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group 0.320 limited 1.000 2 0 2005 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C1305147
Disease: Congenital supravalvular aortic stenosis
Congenital supravalvular aortic stenosis 		disease 0.310 None 1.000 3 0 2000 2010
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease 0.310 None 1.000 2 0 2003 2005
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease 0.300 None 1.000 2 0 1999 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C2350878
Disease: Focal Emphysema
Focal Emphysema 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C1862932
Disease: ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 		disease 0.300 limited 1.000 1 0 1993 1993