DisGeNET - a database of gene-disease associations

TGFBR2, transforming growth factor beta receptor 2, 7048

N. diseases: 502; N. variants: 76

Source: ALL

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:

rs104893813

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs104893814

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs104893815

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs104893816

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs28934568

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs104893807

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893809

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893810

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893811

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893812

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893813

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893814

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893815

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893816

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs28934568

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

22113417

2012

dbSNP:

rs104893807

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893809

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893810

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893811

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893812

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893813

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893814

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893815

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs104893816

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011

dbSNP:

rs28934568

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2674574
Disease:

Aortic aneurysm, familial thoracic 3

0.800

GeneticVariation

UNIPROT

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

21949523

2011