TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Cat eye syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 GeneticVariation disease BEFREE MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. 30799418 2019
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 Biomarker disease BEFREE Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. 20060941 2010
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 Biomarker disease BEFREE These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. 18033723 2008
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 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: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.060 GeneticVariation disease BEFREE We hypothesize that an inter-chromosomal recombination between inverted repeats, together with a recombination between sister chromatids during meiosis I, gave rise to a deletion of 22q11 as well as an inv dup(22) containing the DGS region. 11039583 2000