Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. | 21671375 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. | 21671375 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. | 21671375 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. | 11519011 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. | 11519011 | 2001 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. | 11519011 | 2001 |
||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. | 21671375 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. | 21671375 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. | 11519011 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. | 11519011 | 2001 |