Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. | 25594860 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. | 23633440 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. | 23824674 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Inactivating PAPSS2 mutations in a patient with premature pubarche. | 19474428 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. | 9714015 | 1998 |
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|
0.700 | GeneticVariation | UNIPROT | PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. | 25594860 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. | 23633440 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. | 23824674 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Inactivating PAPSS2 mutations in a patient with premature pubarche. | 19474428 | 2009 |
||||
|
0.700 | GeneticVariation | UNIPROT | Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. | 9714015 | 1998 |