Source: HPO

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 0 0 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 0 0 1980 2020
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 0 0 1987 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 0 0 1986 2020
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.200 None 1.000 0 0 1992 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.150 None 1.000 0 0 2017 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype 0.130 None 1.000 0 0 2003 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease 0.130 None 1.000 0 0 2004 2013
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.130 None 1.000 0 0 1996 2010
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.120 None 1.000 0 0 2005 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.120 None 1.000 0 0 2018 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.120 None 1.000 0 0 2018 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease 0.120 None 1.000 0 0 1996 1998
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 1996 1998
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.110 None 1.000 0 0 1990 1990
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.110 None 1.000 0 0 2014 2014