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: 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: C4082304
Disease: Oligodontia
Oligodontia 		0.500 Biomarker disease BEFREE Our results support the conclusion that molar oligodontia is due to allelic heterogeneity in PAX9, and these data further corroborate the role of PAX9 as an important regulator of molar development. 11827258 2002
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth. 11827258 2002
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 GeneticVariation disease UNIPROT Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 12786960 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE This phenotype is distinct from oligodontia phenotypes associated with mutations in PAX9. 14571272 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations. 12605438 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Our results support the view that mutations in PAX9 could constitute a causative factor of oligodontia. 12786960 2003
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE This phenotype is distinct from oligodontia phenotypes associated with mutations in PAX9. 14571272 2003
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE Our results support the view that mutations in PAX9 could constitute a causative factor of oligodontia. 12786960 2003
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 Biomarker disease BEFREE MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. 12598542 2003
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 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: C0080233
Disease: Tooth Loss
Tooth Loss 		0.030 Biomarker disease BEFREE MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. 12598542 2003
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.010 AlteredExpression disease BEFREE Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. 12833407 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia. 14689302 2004
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia. 14689302 2004
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 GeneticVariation disease LHGDN A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. 14689302 2004
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 Biomarker disease BEFREE These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis. 15329380 2004
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. 15329380 2004
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE Among these, a frameshift mutation (219InsG) within the paired domain of PAX9 produces a protein product associated with a severe form of molar agenesis in a single family. 14607846 2004
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
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Here, we report two polymorphisms in the promoter region of PAX 9 gene that are associated with hypodontia. 16137495 2005
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: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE Mutations in PAX 9 coding sequences have been implicated in autosomal dominant oligodontia affecting predominantly permanent molars and second premolars. 16137495 2005