PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Disease: Tooth Agenesis, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.020 GeneticVariation disease BEFREE Novel missense mutation in PAX9 gene associated with familial tooth agenesis. 22747565 2013
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.020 GeneticVariation disease BEFREE In humans, mutations in PAX9 are associated with unique phenotypes of familial tooth agenesis that mainly involve posterior teeth. 14607846 2004