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: 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.040 Biomarker disease BEFREE Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice. 30583699 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.030 Biomarker disease BEFREE Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice. 30583699 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.030 Biomarker disease BEFREE Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice. 30583699 2019
CUI: C0206554
Disease: Odontodysplasia
Odontodysplasia 		0.010 GeneticVariation disease BEFREE Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation. 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: 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
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.300 Biomarker disease CTD_human Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1 		0.300 Biomarker disease CTD_human Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.110 GeneticVariation disease BEFREE Clinical characterization of families segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second molar and their maxillary central incisors are most susceptible to microdontia. 28910570 2018
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 Biomarker disease BEFREE Despite significant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth agenesis. 28910570 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Moreover, ad libitum feeding with a liquid diet containing ethanol for 40 weeks or Pax9 deficiency promoted N-nitrosomethylbenzylamine-induced squamous cell carcinogenesis in mouse tongue, oesophagus, and forestomach. 29055049 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Bridging the molecular divide: alcohol-induced downregulation of PAX9 and tumour development. 29344962 2018
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.010 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: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.010 GeneticVariation 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: 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: 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