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 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 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 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 Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. 9322534 1997
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 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