DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial thoracic aortic aneurysm and aortic dissection ×

Variant: rs140593 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

21784848

2011

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

19002209

2009

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

16220557

2005

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

14695540

2004

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

11175294

2001

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

11780406

2001

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

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

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.

10464652

1999

dbSNP:

rs140593

FBN1

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

CausalMutation

CLINVAR

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

7611299

1995