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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.700 None 1.000 0 0 1994 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease 0.450 None 1.000 0 0 1994 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.400 None 1.000 0 0 2008 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.370 None 1.000 0 0 2006 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.200 None 1.000 0 0 1997 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease 0.190 None 1.000 0 0 2009 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease 0.170 None 1.000 0 0 2010 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease 0.160 None 1.000 0 0 2002 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease 0.160 None 1.000 0 0 1998 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.150 None 1.000 0 0 2014 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.150 None 1.000 0 0 2012 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.140 None 1.000 0 0 2012 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.140 None 1.000 0 0 2000 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease 0.130 None 1.000 0 0 2012 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype 0.130 None 1.000 0 0 1995 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.130 None 0.667 0 0 2011 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease 0.120 None 1.000 0 0 2002 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.120 None 1.000 0 0 2003 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.120 None 1.000 0 0 2002 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.120 None 1.000 0 0 2012 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.120 None 1.000 0 0 2014 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.120 None 1.000 0 0 2002 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype 0.110 None 1.000 0 0 2015 2015