TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Cakut ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968949
Disease: Cakut
Cakut 		0.320 GeneticVariation disease BEFREE Interestingly, we identified two heterozygous noncoding variants of TBX6 in sporadic subjects with CAKUT: one is c.769-7delT, from a subject with duplex renal and collecting system, and the other is a 3' untranslated region (3'-UTR) variant (c.1392C>T) from a subject with unilateral renal hypoplasia. 30604070 2019
CUI: C1968949
Disease: Cakut
Cakut 		0.320 Biomarker disease CTD_human The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 30578417 2019
CUI: C1968949
Disease: Cakut
Cakut 		0.320 Biomarker disease BEFREE Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome. 30578417 2019