|
rs121908120
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131692034
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs515726227
|
|
CAT |
0.710 |
CausalMutation |
CLINVAR |
A human MSX1 homeodomain missense mutation causes selective tooth agenesis.
|
8696335 |
1996 |
|
rs121908568
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
|
rs28933971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia.
|
14689302 |
2004 |
|
rs779059411
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our finding suggests the missense transversion (c.662C>A) and the polymorphisms (c.347C>G) may be responsible for oligodontia phenotype in this Chinese family.
|
18374898 |
2008 |
|
rs876657641
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
EDA gene mutations underlie non-syndromic oligodontia.
|
19278982 |
2009 |
|
rs132630321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
rs1418913084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
rs776377834
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
rs397516654
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
|
19623212 |
2010 |
|
rs797044484
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
|
19903181 |
2010 |
|
rs4904210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings may imply that the PAX9 A240P</span> mutation is a risk factor for oligodontia in the Chinese population.
|
21530942 |
2011 |
|
rs730882193
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
|
21416598 |
2011 |
|
rs3764897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the gene-gene interaction analysis revealed a significant epistatic interaction between CHDH (rs6445606) and PLD2 (rs3764897) in the susceptibility to hypodontia (p=0.004).
|
21308979 |
2011 |
|
rs6445606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Individuals carrying one copy of the rs6445606 C allele had an over two-fold decreased risk of having hypodontia (odds ratio [OR]CTvsTT=0.434; 95% confidence interval [CI], 0.2724-0.6915; p=0.0004; pcorr=0.0084).
|
21308979 |
2011 |
|
rs1555316704
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
|
22581971 |
2012 |
|
rs11001553
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant difference was observed, between subjects with non-syndromic hypodontia and controls, in the allele and genotype frequencies of two markers [rs929387 of GLI family zinc finger 3 (GLI3) and rs11001553 of Dickkopf-related protein 1 (DKK1)].
|
22984994 |
2012 |
|
rs1270965996
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs139871607
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs67682641
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs67707918
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs34165410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our finding suggests that identified polymorphisms (c.348C>T and c.469+56delins GCCGGGTGGGG) may be responsible for the oligodontia phenotype in this Chinese family, but the association requires further study.
|
23731659 |
2013 |
|
rs929387
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a previous study, we observed that polymorphism in rs929387 of GLI3 might be associated with hypodontia in the Chinese Han population based on a limited population.
|
24278334 |
2013 |