TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Renal carnitine transport defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.030 Biomarker disease BEFREE We confirmed mislocalisation of TBX6 proteins in presomitic mesoderm cells induced from SCD patient-derived iPS cells. 31015262 2019
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.030 Biomarker disease BEFREE One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. 27861764 2017
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.030 GeneticVariation disease BEFREE In mouse, Tbx6 is essential for the patterning of the vertebral precursor tissues, somites; thus, mutation of TBX6 is likely to be causative of SCD in this family. 23335591 2013