TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204039
rs786204039
Entrez Id: 6911
Gene Symbol: TBX6
TBX6
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		GA 0.700 CausalMutation CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
dbSNP: rs786204039
rs786204039
Entrez Id: 6911
Gene Symbol: TBX6
TBX6
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		GA 0.700 CausalMutation CLINVAR Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013