TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Microdeletion syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		0.010 Biomarker disease BEFREE Our data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes. 11242049 2001