Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647

2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992

2011