PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.010 Biomarker disease BEFREE We sequenced WNT10A, WNT10B, MSX1, EDA, EDAR, EDARADD, AXIN2, and PAX9 in all 7 patients to rule out the effects of other ectodermal dysplasias and other tooth-related genes and did not find mutations in any of them. 26416033 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. 15615874 2005
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. 15615874 2005
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 AlteredExpression disease BEFREE We hypothesize that the error in pre-mRNA splicing may lead to lower expression of PAX9 protein and could have contributed to the development of tooth agenesis in the affected subjects. 25683653 2015
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE We hypothesize that the G151A transition in PAX9 might be responsible for the sporadic form of tooth agenesis in this patient. 12786960 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE We hypothesize that molar oligodontia is due to allelic heterogeneity involving different mutations in PAX9. 12489173 2002
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE We hypothesize that molar oligodontia is due to allelic heterogeneity involving different mutations in PAX9. 12489173 2002
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis. 17973693 2007
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis. 17651126 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.040 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 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: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Univariate analysis revealed that PAX9, differentiation, T stage, lymph node metastasis, and tumor‑node‑metastasis stage were associated with OS. 28560390 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Univariate analysis revealed that PAX9, differentiation, T stage, lymph node metastasis, and tumor‑node‑metastasis stage were associated with OS. 28560390 2017
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Two novel missense mutations in PAX9 have been indentified in Chinese families causing oligodontia. 22277187 2012
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE Two novel missense mutations in PAX9 have been indentified in Chinese families causing oligodontia. 22277187 2012
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE To elucidate the pathogenic mechanism producing oligodontia phenotype caused by this mutation, we analyzed the binding of wild-type and mutant PAX9 paired domain protein to double-stranded DNA targets. 17910065 2007
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE To elucidate the pathogenic mechanism producing oligodontia phenotype caused by this mutation, we analyzed the binding of wild-type and mutant PAX9 paired domain protein to double-stranded DNA targets. 17910065 2007
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 Biomarker disease BEFREE To date, the only genes associated with the non-syndromic form of tooth agenesis are MSX1 and PAX9, which encode transcription factors that play a critical role during tooth development. 12974677 2003
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 AlteredExpression disease BEFREE To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). 24121910 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). 24121910 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.040 Biomarker disease BEFREE This work underscores the importance of Pax9-dependent Wnt signaling in palatogenesis and suggests that this functional upstream molecular relationship can be exploited for the development of therapies for human cleft palates that arise from single-gene disorders. 28893947 2017
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members. 25683653 2015
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members. 25683653 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE This phenotype is distinct from oligodontia phenotypes associated with mutations in PAX9. 14571272 2003