Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). 18499550 2008
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
0.100 Biomarker disease BEFREE We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis. 18683894 2009
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis. 17973693 2007
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review. 24316698 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.100 GeneticVariation disease BEFREE Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. 23639568 2013
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE PAX9 gene mutations and tooth agenesis: A review. 28155232 2017
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE We conclude that this frameshift mutation in the homeodomain (which plays an essential role in DNA binding) of MSX1 gene is responsible for tooth agenesis in this family. 27951410 2017
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.100 Biomarker disease BEFREE GATA4 and GATA6 play essential, but redundant, roles in pancreas formation in mice, and <i>GATA6</i> mutations cause pancreatic agenesis in humans. 29263149 2018
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.100 Biomarker disease BEFREE The WNT10A gene has been confirmed as the second molecular candidate that has been identified and accounts for one-half of non-EDA patients and one-third of NSTA patients. 31796081 2019
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.100 GeneticVariation disease BEFREE WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. 25545742 2015
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
0.100 GeneticVariation disease BEFREE In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. 15042511 2004
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted. 31568994 2020
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. 24160254 2013
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. 15329380 2004
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.100 Biomarker disease BEFREE Fourteen variants in/nearby WNT10A, WNT10B and GREM2 were genotyped to test for association with tooth agenesis. 30246922 2018
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis. 18353002 2008
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.100 GeneticVariation disease BEFREE These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans. 25706805 2015
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment. 24979523 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.100 GeneticVariation disease BEFREE GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. 23223019 2013
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A
0.100 GeneticVariation disease BEFREE Only few of the probands but several relatives with heterozygous genotypes of WNT10A or EDAR conformed to the common type of non-syndromic tooth agenesis, incisor-premolar hypodontia. 23991204 2013
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE Novel PAX9 mutation associated with syndromic tooth agenesis. 24028587 2013
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area. 23718693 2013
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.100 GeneticVariation disease BEFREE So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth. 11827258 2002
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 GeneticVariation disease BEFREE Polymorphisms in the upstream promoter region of the human PAX9 have been associated with human non-syndromic tooth agenesis. 21085804 2011
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
0.100 Biomarker disease BEFREE It is therefore proposed that haploinsufficiency of PAX9 is the causal factor for tooth agenesis in this family. 28847717 2017