FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Source: CLINVAR ×
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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 992 1.000 definitive 0.986 179 986 1973 2020
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 23 0.910 None 1.000 0 23 1992 2014
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.900 limited 1.000 2 1 1996 2018
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 27 0.790 strong 1.000 0 27 1995 2018
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 26 0.730 strong 1.000 0 26 1995 2015
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		disease Disease or Syndrome 1 27 0.710 None 1.000 0 27 1992 2016
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 6 0.700 None 1.000 2 1 2011 2019
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 1 24 0.700 strong 1.000 0 24 1992 2010
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 7 0.700 None 1.000 0 6 1994 2020
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 26 0.650 None 1.000 1 26 1992 2019
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		disease Disease or Syndrome 1 27 0.610 strong 1.000 1 27 1995 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 21 442 0.600 definitive 1.000 155 361 1973 2019
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 8 0.500 None 1.000 0 8 1994 2017
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 24 0.450 None 1.000 0 14 1994 2016
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 10 10 0.200 None 1.000 0 1 1993 2020
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 2 2 0.200 None 0.909 0 1 2008 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 1 2 0.200 None 1.000 0 2 1997 2020
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 3 7 0.190 None 1.000 0 5 2009 2020
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 31 0.180 None 1.000 0 1 2006 2018
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 25 0.170 None 1.000 0 1 1993 2012
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 7 17 0.160 None 1.000 0 11 1998 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 9 13 0.150 None 1.000 0 1 2012 2018
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 45 52 0.130 None 0.667 0 4 2011 2018
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.130 None 1.000 0 1 2010 2018
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		disease Eye Diseases Disease or Syndrome 2 3 0.130 None 1.000 0 2 2008 2014