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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 definitive 1.000 158 361 1973 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 29 4 1986 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 29 2 1986 2016
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: 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 9 24 1992 2010
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		disease Disease or Syndrome 1 27 0.610 strong 1.000 5 27 1995 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 1996 2015
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		disease Disease or Syndrome 14 1 0.040 None 1.000 4 1 1995 2014
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.040 None 1.000 4 2002 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.040 None 1.000 4 1994 2014
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 5 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2019
CUI: C1866956
Disease: Aortic root dilation
Aortic root dilation 		disease Disease or Syndrome 9 0.020 None 1.000 2 2009 2018
CUI: C2004489
Disease: Regurgitation
Regurgitation 		phenotype Sign or Symptom 66 0.020 None 1.000 2 2009 2013
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2013 2015
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 3 2019 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0340647
Disease: Distal aortic dissection
Distal aortic dissection 		disease Disease or Syndrome 9 1 0.010 None 1.000 1 2017 2017
CUI: C0342317
Disease: Loss of hypoglycemic warning
Loss of hypoglycemic warning 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease Disease or Syndrome 20 6 0.010 None 1.000 1 2014 2014
CUI: C0345049
Disease: Ascending aorta dilatation
Ascending aorta dilatation 		disease Anatomical Abnormality 7 0.010 None 1.000 1 2009 2009
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease Anatomical Abnormality 10 2 0.110 None < 0.001 1 2 2009 2009
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2019 2019
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta 		disease Disease or Syndrome 26 0.010 None 1.000 1 2018 2018
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 1998 1998