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: 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: 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 5 26 1995 2015
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: C0268365
Disease: Marfanoid hypermobility syndrome
Marfanoid hypermobility syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.020 None 1.000 2 2009 2009
CUI: C0265701
Disease: Congenital eventration of diaphragm
Congenital eventration of diaphragm 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Congenital Abnormality 1 0.010 None 1.000 1 2004 2004
CUI: C0852085
Disease: Congenital connective tissue disorder
Congenital connective tissue disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1112654
Disease: Peripheral artery dissection
Peripheral artery dissection 		disease Disease or Syndrome 1 0.010 None < 0.001 1 2017 2017
CUI: C2748355
Disease: Descending thoracic aortic dissection
Descending thoracic aortic dissection 		disease Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C4277521
Disease: Cerebrospinal Fluid Hypovolemia
Cerebrospinal Fluid Hypovolemia 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C0267716
Disease: Incisional hernia
Incisional hernia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 None 0
CUI: C0685732
Disease: Congenital dilatation of pulmonary artery
Congenital dilatation of pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 1 0.100 None 0
CUI: C1835130
Disease: Premature calcification of mitral annulus
Premature calcification of mitral annulus 		phenotype Finding 1 0.100 None 0
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3805726
Disease: Medial rotation of the medial malleolus
Medial rotation of the medial malleolus 		phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C4016052
Disease: MARFAN SYNDROME, SEVERE CLASSIC
MARFAN SYNDROME, SEVERE CLASSIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4016053
Disease: MARFAN SYNDROME, MILD VARIABLE
MARFAN SYNDROME, MILD VARIABLE 		disease Finding 1 1 0.100 None 0 1
CUI: C4016055
Disease: MARFAN SYNDROME, ATYPICAL
MARFAN SYNDROME, ATYPICAL 		disease Finding 1 2 0.100 None 0 2
CUI: C4016056
Disease: MARFAN SYNDROME, MILD
MARFAN SYNDROME, MILD 		disease Finding 1 1 0.100 None 0 1
CUI: C4016059
Disease: MARFAN SYNDROME, AUTOSOMAL RECESSIVE
MARFAN SYNDROME, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4313505
Disease: Bilateral hallux valgus
Bilateral hallux valgus 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2746069
Disease: Familial ectopia lentis
Familial ectopia lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.330 None 1.000 3 1997 2016
CUI: C0266317
Disease: Megacalycosis
Megacalycosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 2 0.010 None 1.000 1 2002 2002
CUI: C1299432
Disease: Multi vessel coronary artery disease
Multi vessel coronary artery disease 		disease Cardiovascular Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2011 2011