Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. | 20935634 | 2010 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. | 17336828 | 2007 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. | 11418480 | 2001 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. | 10340403 | 1999 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | 10090885 | 1999 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. | 9927496 | 1999 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. | 10515860 | 1999 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. | 9821419 | 1998 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. | 9028957 | 1997 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. | 9028321 | 1997 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. | 9322534 | 1997 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. | 8929361 | 1996 | |||||
Autoimmune Lymphoproliferative Syndrome
|
0.700 | GeneticVariation | UNIPROT | Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. | 7540117 | 1995 |