Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.720 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. | 24803665 | 2014 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? | 23407489 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. | 22237435 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. | 21490157 | 2011 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. | 21490157 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. | 15459303 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. | 10875918 | 2000 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. | 9927496 | 1999 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | 10090885 | 1999 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | 10090885 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |