Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. 26258116

2015
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. 20935634

2010
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker CTD_human Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. 17674358

2007
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. 17336828

2007
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 Biomarker CTD_human Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. 15877736

2005
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 11418480

2001
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496

1999
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 9821419

1998
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9028321

1997
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT One ALPS patient lacked a Fas gene mutation. 9028957

1997
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation 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
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361

1996
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GeneticVariation UNIPROT Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 7540117

1995