TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Conotruncal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation disease BEFREE TBX1 loss-of-function mutation contributes to congenital conotruncal defects. 29250159 2018
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 Biomarker disease 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
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation disease BEFREE Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. 24998776 2014
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation disease BEFREE Our results indicate that TBX1 genetic variants may be associated with CTDs. 22185286 2011
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation disease BEFREE These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs. 12700609 2003
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 GeneticVariation disease BEFREE Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. 11239417 2001
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.070 Biomarker disease 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