PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Disease: Hypodontia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555316704
rs1555316704
Entrez Id: 5083;105370455
Gene Symbol: PAX9;LOC105370455
PAX9;LOC105370455
CUI: C0020608
Disease:
Hypodontia 		A 0.700 CausalMutation CLINVAR Mutations in WNT10A are present in more than half of isolated hypodontia cases. 22581971 2012
dbSNP: rs4904210
rs4904210
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.020 GeneticVariation BEFREE In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia. 25501211 2014
dbSNP: rs4904210
rs4904210
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.020 GeneticVariation BEFREE Our findings may imply that the PAX9 A240P</span> mutation is a risk factor for oligodontia in the Chinese population. 21530942 2011
dbSNP: rs12881240
rs12881240
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE Similarly, the T allele and T carrier (CT + TT) of C912T and rs12881240 in the PAX9 gene also indicated an increased risk of hypodontia. 25501211 2014
dbSNP: rs374534090
rs374534090
Entrez Id: 5083;105370455
Gene Symbol: PAX9;LOC105370455
PAX9;LOC105370455
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case. 25101640 2014
dbSNP: rs7143727
rs7143727
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia. 25501211 2014
dbSNP: rs754287422
rs754287422
Entrez Id: 5083;105370455
Gene Symbol: PAX9;LOC105370455
PAX9;LOC105370455
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia. 24329876 2014
dbSNP: rs776377834
rs776377834
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified. 18657636 2009
dbSNP: rs779059411
rs779059411
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation BEFREE Our finding suggests the missense transversion (c.662C>A) and the polymorphisms (c.347C>G) may be responsible for oligodontia phenotype in this Chinese family. 18374898 2008
dbSNP: rs28933971
rs28933971
Entrez Id: 5083;105370455
Gene Symbol: PAX9;LOC105370455
PAX9;LOC105370455
CUI: C0020608
Disease:
Hypodontia 		0.010 GeneticVariation 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