TBX1, T-box transcription factor 1, 6899

N. diseases: 20; N. variants: 9
Disease: DiGeorge Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. 17377518 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human We can partially rescue one salient feature of DGS in Crkl+/-;Tbx1+/- embryos by genetically reducing the amount of RA produced in the embryo. 16399080 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease CTD_human Interestingly, bacterial artificial chromosome (BAC) transgenic mice overexpressing human TBX1 and three other transgenes, had similar malformations as VCFS/DGS patients. 15190012 2004
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GermlineCausalMutation disease ORPHANET We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease UNIPROT We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 11242110 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 ChromosomalRearrangement disease ORPHANET