FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
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: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.700 None 1.000 39 12 1994 2020
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.200 None 1.000 38 2 1993 2020
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.300 None 0.971 34 1980 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 29 4 1986 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 29 2 1986 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 29 2 1986 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 29 2 1986 2016
CUI: C0029607
Disease: Other emphysema
Other emphysema 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 20 0.200 None 1.000 20 1980 2001
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 3 8 0.500 None 1.000 13 8 1994 2017
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.700 None 1.000 13 1 2011 2019
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		disease Disease or Syndrome 1 27 0.710 None 1.000 12 27 1992 2016
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.200 None 1.000 12 8 1997 2020
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.400 None 1.000 11 2008 2019
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 39 2 0.200 None 0.909 11 1 2008 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2005 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 10 2001 2018
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.530 None 1.000 10 1992 2012
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31 0.650 None 1.000 10 26 1992 2019
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 3 0.400 None 1.000 10 3 2002 2015
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.090 None 0.889 9 2010 2020
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.190 None 1.000 9 10 2009 2020
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.080 None 1.000 8 1996 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.370 None 1.000 8 5 2006 2019
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		disease Cardiovascular Diseases Disease or Syndrome 41 60 0.460 None 1.000 8 36 2002 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 0.180 None 1.000 8 1 2006 2018