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: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE A case-control study was performed on 50 subjects with sporadic tooth agenesis (cases) and 100 healthy controls, which genotyped a PAX9 gene polymorphism (rs4904210). 23857653 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE A frameshift mutation recently identified within the paired domain of the transcription factor, PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family (Stockton et al., 2000). 11005730 2000
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE A frameshift mutation recently identified within the paired domain of the transcription factor, PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family (Stockton et al., 2000). 11005730 2000
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE A novel PAX9 mutation causing oligodontia. 28965043 2017
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE A novel PAX9 mutation causing oligodontia. 28965043 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 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 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 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 initiation codon mutation of PAX9 in a family with oligodontia. 26571067 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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 GeneticVariation disease BEFREE A novel mutation in PAX9 causes familial form of molar oligodontia. 16333316 2006
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 GeneticVariation disease BEFREE A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. 17697174 2007
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.030 GeneticVariation disease BEFREE A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. 17697174 2007
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. 23227268 2012
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 AlteredExpression phenotype BEFREE Abnormal paired box 9 (PAX9) expression is associated with tumorigenesis, cancer development, invasion and metastasis. 28560390 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Abnormal paired box 9 (PAX9) expression is associated with tumorigenesis, cancer development, invasion and metastasis. 28560390 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Abnormal paired box 9 (PAX9) expression is associated with tumorigenesis, cancer development, invasion and metastasis. 28560390 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE Abnormal paired box 9 (PAX9) expression is associated with tumorigenesis, cancer development, invasion and metastasis. 28560390 2017
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE Aggregating the available data, there does not seem to exist a clear association between the alanine 240 for proline variant in the PAX9 gene and the MLIA phenotype. 20660504 2010
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE All mutations of PAX9 identified to date have been associated with nonsyndromic form of tooth agenesis. 16333316 2006
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: 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: 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