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: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 CausalMutation disease CLINVAR Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. 29023497 2017
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: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 Biomarker disease CTD_human
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family. 30809714 2019
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: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family. 30809714 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease BEFREE The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (hypodontia) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA. 29477862 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia. 28847717 2017
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE A novel PAX9 mutation causing oligodontia. 28965043 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: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia. 28847717 2017
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE A novel PAX9 mutation causing oligodontia. 28965043 2017
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 A novel initiation codon mutation of PAX9 in a family with oligodontia. 26571067 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth. 28040065 2016
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE A novel initiation codon mutation of PAX9 in a family with oligodontia. 26571067 2016
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: 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 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 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 In conclusion, our meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases, of which 3 sites may be risk factors and 1 may have a protective role. 25501211 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE The PAX9-1031-A-PAX9-912-T haplotype was the most relevant combination causing hypodontia. 23964635 2014