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: 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: 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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 1 2 0.200 None 1.000 0 2 1997 2020
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: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 1 1 0.100 None 0 1
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: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease Anatomical Abnormality 1 1 0.110 None < 0.001 0 1 2009 2009
CUI: C0426422
Disease: Narrow nose
Narrow nose 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		phenotype Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
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: 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: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.100 None 0 1
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: 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: 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: 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: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		disease Disease or Syndrome 1 27 0.710 None 1.000 0 27 1992 2016