Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation BEFREE TBX1 loss-of-function mutation contributes to congenital conotruncal defects. 29250159

2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 Biomarker BEFREE Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. 23828768

2014
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation BEFREE Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. 24998776

2014
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation BEFREE Our results indicate that TBX1 genetic variants may be associated with CTDs. 22185286

2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation BEFREE These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs. 12700609

2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation BEFREE Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. 11239417

2001
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 Biomarker BEFREE Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). 8566942

1996