DisGeNET - a database of gene-disease associations

TGFBR1, transforming growth factor beta receptor 1, 7046

N. diseases: 347; N. variants: 47

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:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

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

22113417

2012

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs111854391

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

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

22113417

2012

dbSNP:

rs113605875

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs121918710

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

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

22113417

2012

dbSNP:

rs121918710

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs121918711

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

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

22113417

2012

dbSNP:

rs121918711

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs121918712

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

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

22113417

2012

dbSNP:

rs121918712

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

21522183

2011

dbSNP:

rs113605875

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

21522183

2011

dbSNP:

rs121918710

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

21522183

2011

dbSNP:

rs121918711

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

21522183

2011

dbSNP:

rs121918712

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

21522183

2011

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

19883511

2009

dbSNP:

rs111854391

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

19883511

2009

dbSNP:

rs121918710

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

19883511

2009

dbSNP:

rs121918711

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

19883511

2009

dbSNP:

rs121918712

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

19883511

2009

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

16791849

2006

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

16928994

2006

dbSNP:

rs111426349

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

16596670

2006

dbSNP:

rs111854391

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

16791849

2006

dbSNP:

rs111854391

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C4551955
Disease:

Loeys-Dietz Syndrome, Type 1a

0.800

GeneticVariation

UNIPROT

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

16928994

2006