TBXT, T-box transcription factor T, 6862

N. diseases: 41; N. variants: 4
Disease: Skull Base Chordoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2305089
rs2305089
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
CUI: C1335975
Disease:
Skull Base Chordoma 		0.010 GeneticVariation BEFREE In process, we have identified chromosomal aberration in 1p, 7, 10, 13 and 17q, high frequency of functional germline SNP of the T gene, rs2305089 (P = 0.0038) and several recurrent alterations including MUC4, NBPF1, NPIPB15 mutations and novel gene fusion of SAMD5-SASH1 for the first time in skull base chordoma. 27901492 2017