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: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 Biomarker disease MGD Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. 16236760 2005
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.500 GeneticVariation disease BEFREE Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. 21626677 2011
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.500 GeneticVariation disease BEFREE Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. 21626677 2011
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
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 Biomarker disease BEFREE PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. 16247549 2006
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE PAX9 mutation p.Phe15Ile within the N-terminal β-hairpin structure of the PAX9 paired domain causes tooth agenesis. 23227268 2012
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 GeneticVariation disease BEFREE PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China. 23857653 2013
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. 24160254 2013
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation disease BEFREE PAX9 gene mutations and tooth agenesis: A review. 28155232 2017
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE PAX9‑positive ESCC patients who received post‑surgery radiotherapy had a significantly greater 5‑year DFS (P=0.011) and OS (P=0.009) than patients who received surgery only. 28560390 2017
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