TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Emanuel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		0.030 Biomarker disease BEFREE Analysis of both the genomic sequence for the 22q11 interval and the orthologous regions in the mouse has identified >24 genes that are shared between VCFS/DGS and der(22) syndrome and has identified 14 putative genes that are shared between CES and der(22) syndrome. 11925570 2002
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		0.030 Biomarker disease BEFREE We have identified and characterized a novel human gene, located within the 1.5-Mb region deleted in VCFS/DGS, trisomic in der(22) syndrome and tetrasomic in CES. 11350118 2001
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		0.030 GeneticVariation disease BEFREE Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. 10053009 1999