Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. | 21490157 | 2011 |
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C | 0.700 | GeneticVariation | CLINVAR | The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. | 9927496 | 1999 |
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C | 0.700 | GeneticVariation | CLINVAR | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | 10090885 | 1999 |