| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TCATG | 0.700 | CausalMutation | CLINVAR | Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). | 27060458 | 2016 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Autoimmune lymphoproliferative syndrome: an update and review of the literature. | 25086580 | 2014 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. | 24398331 | 2014 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. | 21490157 | 2011 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. | 21885602 | 2011 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. | 20360470 | 2010 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? | 10709732 | 2000 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. | 9028321 | 1997 |
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|
TCATG | 0.700 | CausalMutation | CLINVAR | Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. | 7539157 | 1995 |