PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Disease: Cleft palate, isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.030 Biomarker disease BEFREE Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice. 30583699 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.030 Biomarker disease BEFREE We found that cleft palate pathogenesis in Pax9-deficient embryos is accompanied by significantly reduced expression of Axin2, an endogenous target of canonical Wnt signaling, in the developing palatal mesenchyme, particularly in the posterior regions of the palatal shelves. 28692808 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.030 Biomarker disease BEFREE Taken together, our data uncover a unique relationship between Pax9 and the Eda/Edar signaling pathway that can be further exploited for the development of noninvasive, safe, and effective therapies for the treatment of cleft palate conditions and other single-gene disorders affecting the craniofacial complex. 28813171 2017