TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Craniofacial Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 Biomarker group BEFREE The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. 22893440 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 GeneticVariation group BEFREE Thus, chordin is a modifier for the craniofacial anomalies of Tbx1 mutations, demonstrating the existence of a second-site modifier for a specific subset of the phenotypes associated with 22q11DS. 19247433 2009
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 Biomarker group CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 Biomarker group CTD_human Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 15190012 2004