Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 Biomarker GENOMICS_ENGLAND FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. 20082464

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 Biomarker GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551

1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 Biomarker GENOMICS_ENGLAND Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497

1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 Biomarker GENOMICS_ENGLAND Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946

1992