FAS, Fas cell surface death receptor, 355

N. diseases: 754; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Heterozygous mutations in CD95, CD95 ligand or caspase-10 underlie most cases of autoimmune lymphoproliferative syndrome (ALPS), a human disorder that is characterized by defective lymphocyte apoptosis, lymphadenopathy, splenomegaly and autoimmunity. 12353035 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Fas (CD95, APO-1) mutations were found in autoimmune diseases and some lymphomas, suggesting impairment of Fas-mediated cell death signaling that may cause tumor development. 11454987 2001
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE In the autoimmune/lymphoproliferative syndrome (ALPS), inherited loss-of-function mutations of the Fas gene cause nonmalignant lymphoproliferation and autoimmunity. 10807785 2000
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Apoptosis mediated by the Apo-1/Fas and Fas ligand pathways has been implicated in many disorders, including autoimmunity and tumorigenesis. 10840834 2000
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Heterozygous mutations of the receptor CD95 (Fas/Apo-1) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. 9927496 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE CD95 mutations are associated with loss of regulation of B lymphocytes, which predisposes to systemic autoimmunity including SLE. 10513797 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE As expected, the primary genetic determinant of autoimmune disease in this cross was the Fas gene on mouse chromosome 19, exhibiting a lod score of 60. 9862736 1998
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Our knowledge in immunology has been dramatically increased by several excellent investigations elucidating the role of the Fas (Apo-1/CD95) receptor/ligand (FasL) system in complex immunological processes such as the acquisition of self tolerance in T cells, progression of autoimmunity, clonal deletion of activated T cells, B-cell regulation and the establishment of "immune privileged" sites such as testis or retina. 9922038 1998
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Fas/APO-1/CD95 in health and autoimmune disease: thymic and peripheral aspects. 9826578 1998
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 AlteredExpression group BEFREE The cell surface protein Fas (CD95) and its ligand play a pivotal role in regulating lymphocyte apoptosis, and defective expression of either Fas or Fas ligand results in marked over accumulation of mature lymphocytes and autoimmune disease in mice. 9028957 1997
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. 9108407 1997
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361 1996
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Heterozygous fas gene mutations, like homozygous deletions, can also be expressed in various cells and tissues and may predispose towards autoimmune disorders. 8806292 1996
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group CTD_human Stimulation of PIP2 hydrolysis by aluminum fluoride in resting T cell subsets of normal and autoimmune-prone lpr mice. 2545777 1989