TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 GeneticVariation disease UNIPROT TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 GeneticVariation disease UNIPROT Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease MGD Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. 4073528 1985
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease CTD_human
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 Biomarker disease GENOMICS_ENGLAND