SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. 24038782 2013
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. 20513132 2010
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 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
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851 2003
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 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
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Acampomelic campomelic syndrome. 11754051 2001
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Acampomelic campomelic dysplasia with SOX9 mutation. 10951468 2000
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. 10446171 1999
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 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
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. 9002675 1997
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.800 GeneticVariation UNIPROT Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. 7485151 1995
dbSNP: rs137853129
rs137853129
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
G 0.800 CausalMutation CLINVAR
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. 24038782 2013
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. 20513132 2010
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 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
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation BEFREE 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
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT Acampomelic campomelic syndrome. 11754051 2001
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 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
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT Acampomelic campomelic dysplasia with SOX9 mutation. 10951468 2000
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 GeneticVariation UNIPROT Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. 10446171 1999
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA
0.710 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
dbSNP: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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