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 | ||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic syndrome. | 11754051 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic syndrome. | 11754051 | 2001 | |||||||
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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 | |||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic dysplasia with SOX9 mutation. | 10951468 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic dysplasia with SOX9 mutation. | 10951468 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic dysplasia with SOX9 mutation. | 10951468 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Acampomelic campomelic dysplasia with SOX9 mutation. | 10951468 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. | 10446171 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. | 10446171 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. | 10446171 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. | 10446171 | 1999 | |||||||
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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 | |||||||
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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 | |||||||
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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 | |||||||
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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 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR |