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 This phenotype is distinct from oligodontia phenotypes associated with mutations in PAX9. 14571272 2003
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE This novel mutation (c.G1057A) in PAX9 caused hypodontia by altering PAX9 gene function and downregulating BMP4 gene expression. 30256498 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE Thirty-five of those with agenesis and 15 controls had their DNA studied for PAX9 exons 2, 3, 4 and adjacent regions (total of 1476 base pairs, bp) as well as MSX1 exon 2 (698bp). 21111400 2011
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: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis. 18353002 2008
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional factors and activity of this gene and are associated with hypodontia in Caucasian individuals. 24160254 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE These findings suggest that the 321_322insG mutation causes insufficient function of PAX9 protein and haploinsufficiency as a genetic model of familial non-syndromic oligodontia with a PAX9 mutation. 21098475 2011
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 The tooth agenesis phenotype involves all permanent second and third molars and most of the first molars and resembles the earlier reported phenotype that was also associated with a PAX9 mutation. 11781684 2001
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The strategy in this study was to use the variation in the number of teeth in the affected individuals of three mutant families with hypodontia, to determine the relative influence (relative molecular morphogenetic field) of MSX 1 and PAX 9 genes on the dental field. 11407892 2001
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 GeneticVariation disease BEFREE The significantly smaller tooth crown dimensions recorded in the affected family members show that the effect of the PAX9 mutation is seen not only in the congenitally missing teeth but also in smaller crown size throughout the dentition. 18653171 2009
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.030 GeneticVariation disease BEFREE The significantly smaller tooth crown dimensions recorded in the affected family members show that the effect of the PAX9 mutation is seen not only in the congenitally missing teeth but also in smaller crown size throughout the dentition. 18653171 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 AlteredExpression phenotype BEFREE The phenotypes we observed in homozygous Slc25a21(tm1a(KOMP)Wtsi) mice were broadly consistent with a hypomorphic Pax9 allele with the exception of otitis media and hearing impairment which may be a novel consequence of Pax9 down regulation. 24642684 2014
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.010 AlteredExpression disease BEFREE The phenotypes we observed in homozygous Slc25a21(tm1a(KOMP)Wtsi) mice were broadly consistent with a hypomorphic Pax9 allele with the exception of otitis media and hearing impairment which may be a novel consequence of Pax9 down regulation. 24642684 2014
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		0.010 AlteredExpression disease BEFREE The phenotypes we observed in homozygous Slc25a21(tm1a(KOMP)Wtsi) mice were broadly consistent with a hypomorphic Pax9 allele with the exception of otitis media and hearing impairment which may be a novel consequence of Pax9 down regulation. 24642684 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia. 18374898 2008
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE The occurrence of non-syndromic still remains poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia. 18374898 2008
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes. 25377791 2015
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes. 25377791 2015
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. 11374781 2001
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease BEFREE The most distinguishing feature of MSX1-associated oligodontia is the frequent (75%) absence of maxillary first bicuspids, while the most distinguishing feature of PAX9-associated oligodontia is the frequent (> 80%) absence of the maxillary and mandibular second molars. 16498076 2006
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 Biomarker disease BEFREE The most distinguishing feature of MSX1-associated oligodontia is the frequent (75%) absence of maxillary first bicuspids, while the most distinguishing feature of PAX9-associated oligodontia is the frequent (> 80%) absence of the maxillary and mandibular second molars. 16498076 2006
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. 28155232 2017
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. 28155232 2017
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 Biomarker disease BEFREE The findings show that isolated dental agenesis exists as part of a spectrum of syndromes for all the identified genes except PAX9 and that the pattern of dental agenesis can be useful in clinical diagnosis to identify (or narrow) the causative gene mutations. 29879364 2018