GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 PosttranslationalModification disease BEFREE Recent studies have shown that conditional inactivation of Gata6 in mice causes hindlimb-specific pre-axial polydactyly, indicating a role of Gata6 in anterior-posterior patterning of hindlimbs. 29197504 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 Biomarker disease BEFREE Both the genetic and biochemical data elucidates a novel mechanism by Gata6 to regulate GLI3R activities in the anterior limb progenitor cells to prevent polydactyly and attain proper development of the mammalian autopod. 27352137 2016