Source: ORPHANET

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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 0 0 1973 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		disease 0.910 None 1.000 0 0 1992 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.790 strong 1.000 1 0 1995 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		disease 0.730 strong 1.000 1 0 1995 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		disease 0.710 None 1.000 2 0 1992 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		disease 0.700 None 1.000 1 0 2011 2019
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: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease 0.530 strong 1.000 3 0 1993 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		disease 0.530 None 1.000 0 0 1992 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		disease 0.500 None 1.000 1 0 1994 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		disease 0.400 None 1.000 0 0 2002 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C2746069
Disease: Familial ectopia lentis
Familial ectopia lentis 		disease 0.330 None 1.000 0 0 1997 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome 		disease 0.300 None 0 0