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 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054

2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365

2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536

2005