TBXT, T-box transcription factor T, 6862

N. diseases: 41; N. variants: 4
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 GeneticVariation disease UNIPROT Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 24253444 2014
CUI: C3810343
Disease: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 		0.700 CausalMutation disease CLINVAR