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 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
GC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.710 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
|
|
|
0.710 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. | 9002675 | 1997 |