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 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 GermlineCausalMutation disease ORPHANET
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 CausalMutation disease CLINVAR
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 Biomarker disease HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.110 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.010 GeneticVariation group BEFREE Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. 10204852 1999
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 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: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 11781684 2001
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 11781684 2001
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: 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: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.010 GeneticVariation group BEFREE Gain of function of the gene PAX9 on chromosome 14 is a possible candidate for a t(14;18) patient affected with mesomelic bone dysplasia. 11477612 2001
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE We hypothesize that molar oligodontia is due to allelic heterogeneity involving different mutations in PAX9. 12489173 2002
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease BEFREE Coupling these new clinical findings with results from recent molecular studies, we suggest that transcription factors such as MSX1 and PAX9, which have been associated with agenesis of molars, might be involved in the genetic control of Mn.I2.C transposition and PDC, tooth malpositions connected here with the specific expression of posterior-field (M3) hypodontia. 12490878 2002
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease BEFREE Our results support the conclusion that molar oligodontia is due to allelic heterogeneity in PAX9, and these data further corroborate the role of PAX9 as an important regulator of molar development. 11827258 2002
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 Biomarker disease BEFREE PAX9 is one of two genes, and the only odontogenic gene within the deletion interval, thus supporting the model of haploinsufficiency for PAX9 as the underlying basis for hypodontia. 11941488 2002