DisGeNET - a database of gene-disease associations

TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11

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:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0200641
Disease:

Blood basophil count (lab test)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C0524587
Disease:

Mean Corpuscular Volume (result)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs3809627

Entrez Id:	6911;83719
Gene Symbol:	TBX6;YPEL3

TBX6;YPEL3

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs201620629

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs202193096

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C0036439
Disease:

Scoliosis, unspecified

0.700

GeneticVariation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs758051786

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs786204039

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs786204040

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs879253776

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs879253857

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

25564734

2015

dbSNP:

rs201620629

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs758051786

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs786204039

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs786204040

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs879253776

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs879253857

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

23335591

2013

dbSNP:

rs1567342899

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs202193096

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777113

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C4083048
Disease:

SPONDYLOCOSTAL DYSOSTOSIS 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs3809624

Entrez Id:	6911
Gene Symbol:	TBX6

TBX6

CUI:	C0559260
Disease:

Congenital scoliosis

0.010

GeneticVariation

BEFREE

The single SNP analysis showed allele frequency of rs2289292 (exon 8, the only tagging SNP) and rs3809624 (5' untranslated region) demonstrated significant difference between CS cases and controls (P = 0.017 and P = 0.033).

20228709

2010