FAS, Fas cell surface death receptor, 355

N. diseases: 66; N. variants: 38
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. 26258116 2015
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation disease ORPHANET The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. 22983577 2013
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation disease ORPHANET The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. 22983577 2013
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation disease ORPHANET The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. 21885602 2011
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation disease ORPHANET The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. 21885602 2011
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. 20935634 2010
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker disease CTD_human Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. 17674358 2007
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. 17336828 2007
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker disease CTD_human Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. 15877736 2005
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 11418480 2001
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885 1999
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT We describe the molecular analysis of the CD95 death domain in a family with autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), T-cell lymphoma, and Hodgkin's disease. 10340403 1999
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496 1999
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). 10515860 1999
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 9821419 1998
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9028321 1997
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT One ALPS patient lacked a Fas gene mutation. 9028957 1997
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. 9322534 1997
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361 1996
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation disease UNIPROT Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 7540117 1995
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 GeneticVariation disease UNIPROT
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 CausalMutation disease CGI
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 GeneticVariation disease UNIPROT
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 CausalMutation disease CGI
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.510 Biomarker group CTD_human Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathy. 17943461 2007