rs104893656
|
PAX8;PAX8-AS1
|
Congenital thyroid hypoplasia
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
|
11502839 |
2001 |
rs104893656
|
PAX8;PAX8-AS1
|
Congenital Hypothyroidism
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
|
11502839 |
2001 |
rs104893656
|
PAX8;PAX8-AS1
|
Thyroid Hypoplasia
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
|
11502839 |
2001 |
rs1110839
|
PAX8;PAX8-AS1
|
Cervix carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs1110839
|
PAX8;PAX8-AS1
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Rs4848320 and rs1110839 polymorphisms may be associated with lung cancer susceptibility.
|
29997452 |
2018 |
rs1110839
|
PAX8;PAX8-AS1
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Rs4848320 and rs1110839 polymorphisms may be associated with lung cancer susceptibility.
|
29997452 |
2018 |
rs1110839
|
PAX8;PAX8-AS1
|
cervical cancer
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs1110839
|
PAX8;PAX8-AS1
|
Malignant tumor of cervix
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs1110839
|
PAX8;PAX8-AS1
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Rs4848320 and rs1110839 polymorphisms may be associated with lung cancer susceptibility.
|
29997452 |
2018 |
rs1173174494
|
PAX8;PAX8-AS1
|
Congenital Hypothyroidism
|
|
0.010 |
GeneticVariation |
BEFREE |
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
|
27207603 |
2016 |
rs200817352
|
PAX8;PAX8-AS1
|
Thyroid Neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, somatic p.V600E BRAF mutations were also detected in the thyroid tumors of two members of the family carrying the p.A248G variant.
|
25381600 |
2015 |
rs200817352
|
PAX8;PAX8-AS1
|
Carcinogenesis
|
|
0.010 |
GeneticVariation |
BEFREE |
In these experiments, we observed that the p.A248G variant promoted cell proliferation and migration, suggesting that it may be involved in thyroid tumorigenesis.
|
25381600 |
2015 |
rs201093713
|
PAX8;PAX8-AS1
|
Cerebral Palsy
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108).
|
28954305 |
2018 |
rs201093713
|
PAX8;PAX8-AS1
|
Thyroid Dysgenesis
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108).
|
28954305 |
2018 |
rs201436651
|
PAX8;PAX8-AS1
|
Carcinoma, Transitional Cell
|
|
0.010 |
GeneticVariation |
BEFREE |
Thrombomodulin, uroplakin III, p63, and S100P are useful markers for urothelial carcinoma.
|
21204715 |
2011 |
rs201436651
|
PAX8;PAX8-AS1
|
Urothelial Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Thrombomodulin, uroplakin III, p63, and S100P are useful markers for urothelial carcinoma.
|
21204715 |
2011 |
rs368201100
|
PAX8;PAX8-AS1
|
Congenital Hypothyroidism
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
|
17980011 |
2008 |
rs4848320
|
PAX8;PAX8-AS1
|
Malignant tumor of cervix
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs4848320
|
PAX8;PAX8-AS1
|
cervical cancer
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs4848320
|
PAX8;PAX8-AS1
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Interaction of rs4848320 risk genotypes with smoking exposure may strengthen the risk effect on lung cancer.
|
29997452 |
2018 |
rs4848320
|
PAX8;PAX8-AS1
|
Cervix carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer.
|
27225188 |
2016 |
rs4848320
|
PAX8;PAX8-AS1
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Interaction of rs4848320 risk genotypes with smoking exposure may strengthen the risk effect on lung cancer.
|
29997452 |
2018 |
rs4848320
|
PAX8;PAX8-AS1
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Interaction of rs4848320 risk genotypes with smoking exposure may strengthen the risk effect on lung cancer.
|
29997452 |
2018 |
rs775083174
|
PAX8;PAX8-AS1
|
Congenital Hypothyroidism
|
|
0.010 |
GeneticVariation |
BEFREE |
PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant.
|
17437516 |
2007 |
rs104893656
|
PAX8;PAX8-AS1
|
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|