TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Autosomal dominant spondylocostal dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GeneticVariation disease BEFREE A heterozygous TBX6 loss-of-function mutation has been reported in a family with autosomal-dominant spondylocostal dysostosis, but it may represent a spectrum of the same disease with TACS. 28054739 2017
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GermlineCausalMutation disease ORPHANET Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 GeneticVariation disease BEFREE Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.520 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985