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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 29 4 1986 2016
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: 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: 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: C0002940
Disease: Aneurysm
Aneurysm 		disease Cardiovascular Diseases Pathologic Function 12 36 0.100 None 0 15
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: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 2 2 0.110 None 1.000 0 1 2014 2014
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: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 4 0.100 None 0 1
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 15 14 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.100 None 0 1
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 34 0.100 None 0 1
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: 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: 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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35 0.100 None 0 3
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		disease Eye Diseases Disease or Syndrome 2 3 0.130 None 1.000 0 2 2008 2014
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 11 0.100 None 0 1
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.100 None 0 1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 46 52 0.100 None 0 4
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: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 45 52 0.130 None 0.667 0 4 2011 2018