|
rs1042667
|
SOX9;SOX9-AS1
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Results showed that SOX9 rs1042667 was significant associated with increased gliomas risk after adjusted by age, gender, family history of cancer, smoking status and alcohol status (Allele C vs A: OR=1.25; 95% CI=1.11-1.40; P=1.2×10-4).
|
27589569 |
2016 |
|
rs1042667
|
SOX9;SOX9-AS1
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.
|
30813126 |
2019 |
|
rs1042667
|
SOX9;SOX9-AS1
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Results showed that SOX9 rs1042667 was significant associated with increased gliomas risk after adjusted by age, gender, family history of cancer, smoking status and alcohol status (Allele C vs A: OR=1.25; 95% CI=1.11-1.40; P=1.2×10-4).
|
27589569 |
2016 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
|
9452059 |
1998 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
|
11323423 |
2001 |
|
rs104894647
|
SOX9;SOX9-AS1
|
Acampomelic Campomelic Dysplasia
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
|
10446171 |
1999 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acampomelic campomelic dysplasia with SOX9 mutation.
|
10951468 |
2000 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
|
12783851 |
2003 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acampomelic campomelic syndrome.
|
11754051 |
2001 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
|
7485151 |
1995 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
|
19033726 |
2008 |
|
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |
|
rs1057518216
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518669
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1131691554
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs12601701
|
SOX9;SOX9-AS1;LOC107987249
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.
|
30813126 |
2019 |
|
rs1357275943
|
SOX9;SOX9-AS1
|
Swyer Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis.
|
30893644 |
2019 |
|
rs137853128
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.710 |
GeneticVariation |
UNIPROT |
A long-term survivor with the acampomelic form of CD has an A76E amino acid substitution, while a severely affected CD patient had an in-frame deletion of amino acid residues 66-75.
|
12783851 |
2003 |
|
rs137853128
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.710 |
GeneticVariation |
UNIPROT |
Acampomelic campomelic dysplasia with SOX9 mutation.
|
10951468 |
2000 |
|
rs137853128
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.710 |
GeneticVariation |
UNIPROT |
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
|
19033726 |
2008 |
|
rs137853128
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |