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: rs137853128
rs137853128
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.710 GeneticVariation UNIPROT Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. 7485151 1995
dbSNP: rs1425166755
rs1425166755
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. 28965976 2018
dbSNP: rs1425166755
rs1425166755
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. 25983619 2015
dbSNP: rs104894647
rs104894647
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs137853130
rs137853130
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs1407667250
rs1407667250
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs28940282
rs28940282
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs104894647
rs104894647
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs137853130
rs137853130
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs1407667250
rs1407667250
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs28940282
rs28940282
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs104894647
rs104894647
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs137853130
rs137853130
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs1407667250
rs1407667250
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs1425166755
rs1425166755
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR 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: rs28940282
rs28940282
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
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
dbSNP: rs104894647
rs104894647
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs137853130
rs137853130
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs1407667250
rs1407667250
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs28940282
rs28940282
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. 19033726 2008
dbSNP: rs1425166755
rs1425166755
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. 17352389 2007
dbSNP: rs1425166755
rs1425166755
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Differentiating campomelic dysplasia from Cumming syndrome. 15754354 2005
dbSNP: rs104894647
rs104894647
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851 2003
dbSNP: rs137853130
rs137853130
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851 2003
dbSNP: rs1407667250
rs1407667250
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
CUI: C1861922
Disease:
CAMPOMELIC DYSPLASIA 		0.700 GeneticVariation UNIPROT Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851 2003