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: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		0.310 SusceptibilityMutation disease ORPHANET Our findings suggest that a high copy number of FAS gene confers risk for BD and VKH syndrome. 26136352 2015
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 AlteredExpression disease BEFREE A number of key observations have been made recently that better define the pathophysiology of ALPS, including the characterization of somatic FAS variant ALPS, the identification of haploinsufficiency as a mechanism of decreased Fas expression, and the description of multiple genetic hits in FAS in some families that may explain the variable penetrance of the disease. 22157362 2012
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 AlteredExpression disease BEFREE However, double-negative (DN) T cells of the ALPS patient had no FAS expression due to somatic loss of heterozygosity. 23524443 2013
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 AlteredExpression disease BEFREE Indeed, this peculiar genetic background favored the identification of a novel form of AR ALPS-FAS associated with normal or residual protein expression, expanding the spectrum of ALPS types. 29345341 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease LHGDN Immunohistochemical expression of fatty acid synthase, Ki-67 and p53 in squamous cell carcinomas of the larynx. 18949744 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease BEFREE The authors studied the expression of CD95 (Fas) in biopsy samples of normal skin (not exposed to sun) and compared it with chronically sun-exposed skin (as evidenced by solar elastosis), AK, squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), and keratoacanthomas (KA). 11857317 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease BEFREE The high expression of CD95 ligand, TRAIL, and FLIP in squamous cell carcinoma may then contribute to the immune escape of the tumor, whereas the lack of expression of CD95 and TRAIL receptors prevents autolysis of the tumor. 11442750 2001
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease BEFREE FAS expression was studied in 60 squamous cell carcinomas of the oral cavity. 23894399 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease BEFREE Analysis of methylation and mRNA expression status of FADD and FAS genes in patients with oral squamous cell carcinoma. 25129245 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease LHGDN Immunohistochemical expression of p53, Bcl-2, Bax, and Fas proteins in squamous cell carcinomas from immunosuppressed renal transplant recipients and immunocompetent individuals. 12270344 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 AlteredExpression disease LHGDN Expression of Fas and Fas-ligand and analysis of argyrophilic nucleolar organizer regions in squamous cell carcinoma: relationships with tumor stage and grade, and apoptosis. 15907374 2005
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 AlteredExpression disease BEFREE We demonstrate that CD95 mutations occur at low frequency in NHL tumors, however, surface expression of the CD95 protein varies with the subtype of lymphoma. 11697638 2002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.510 AlteredExpression group BEFREE Fas-receptor, its soluble isoform FasExo6Del, and Bcl-xL mRNA were quantified by standard calibrated competitive reverse-transcription polymerase chain reaction (PCR) in 6 patients suffering from dilated cardiomyopathy. 10218621 1999
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.410 AlteredExpression disease BEFREE Evidence that FasL and Fas participate in renal injury may be summarized along modified Koch's postulates (Table 1): (i) FasL is expressed by renal cells and during renal injury, (ii) activation of the Fas receptor promotes apoptosis of cultured renal cells, (iii) Fas agonists induce glomerular injury but they may also decrease renal injury by limiting injurious immunological responses, (iv) mice with disrupted FasL/Fas systems are protected from tubular cell injury during ischaemia reperfusion, although they develop autoimmune glomerulonephritis if other genetic predisposing factors are present. 10462254 1999
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 AlteredExpression group BEFREE Increased activation of CD95/Fas by Fas ligand in viral hepatitis and autoimmunity is involved in pathogenesis of fulminant hepatitis and liver failure. 28060213 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.400 AlteredExpression group BEFREE Moreover, altered expression of CD95 or its ligand causes autoimmunity and has also been directly involved in recurrent pregnancy losses and pregnancy disorders. 30702213 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.400 AlteredExpression disease BEFREE There was no difference in the proportion of total CD95(+) B cells (23.5+/-2.8) in the two groups, but SLE patients in an inactive phase of the disease characteristically expressed a relatively high proportion (50%) of CD95(high) B cells. 9802928 1998
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.400 AlteredExpression disease BEFREE Expression of Fas/APO-1 protein was increased in freshly isolated SLE T lymphocytes compared with normal donor T lymphocytes, whereas bcl-2 protein was up-regulated after a 3-day culture period. 9041943 1997
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.400 AlteredExpression disease LHGDN Abnormal Fas/FasL and caspase-3-mediated apoptotic signaling pathways of T lymphocyte subset in patients with systemic lupus erythematosus. 16808908 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.400 AlteredExpression disease BEFREE FAS mRNA editing in Human Systemic Lupus Erythematosus. 21793106 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.400 AlteredExpression disease BEFREE Up-regulated expression of Fas antigen (CD95) by peripheral naive and memory T cell subsets in patients with systemic lupus erythematosus (SLE): a possible mechanism for lymphopenia. 7531628 1995
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.400 AlteredExpression group BEFREE In normal and lymphoma B cells, this correlated to increased CD95 membrane expression, enhanced DISC activity and engagement of the mitochondrial death pathway via Bid cleavage, although the latter occurred less efficiently in B-NHLr. 19751723 2009
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.400 AlteredExpression group BEFREE We demonstrate that CD95 mutations occur at low frequency in NHL tumors, however, surface expression of the CD95 protein varies with the subtype of lymphoma. 11697638 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 AlteredExpression disease BEFREE Because CASP8 is a key component of the death-inducing signaling complex (DISC) when specific death receptors (including DR4, DR5, FAS) are activated by their specific ligands (TRAIL/FASL), we examined expression of the components of the DISC complex in lung cancer cell lines. 12466971 2002