TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1445910672
rs1445910672
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555895466
rs1555895466
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease:
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C4016770
Disease:
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. 1349199 1992
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. 11748311 2001
dbSNP: rs41298838
rs41298838
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		0.700 GeneticVariation UNIPROT Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. 11195019 2001
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.700 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex. 17273972 2007
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.700 GeneticVariation UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Velo-cardio-facial syndrome: 30 Years of study. 18636631 2008
dbSNP: rs1329122220
rs1329122220
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE Even though transmission disequilibrium test (TDT) further supported the association of P352T and +2,004 -/inst T with obesity, none of these nominal associations remained significant after a multiple testing Bonferroni correction. 20075856 2010
dbSNP: rs2238776
rs2238776
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C2697758
Disease:
Interleukin 10 Measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African Americans. 22205395 2012
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. 23996541 2013
dbSNP: rs1274480565
rs1274480565
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0266642
Disease:
Situs ambiguus 		0.010 GeneticVariation BEFREE Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. 23427188 2013
dbSNP: rs1274480565
rs1274480565
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0013069
Disease:
Double Outlet Right Ventricle 		0.010 GeneticVariation BEFREE Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. 23427188 2013
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. 24998776 2014
dbSNP: rs2238776
rs2238776
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0600139
Disease:
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. 25217961 2014
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Practical guidelines for managing adults with 22q11.2 deletion syndrome. 25569435 2015
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Practical guidelines for managing adults with 22q11.2 deletion syndrome. 25569435 2015
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. 27617111 2015
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR 22q11 deletion syndrome: current perspective. 26056486 2015