FAS, Fas cell surface death receptor, 355

N. diseases: 754; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7897395
rs7897395
Entrez Id: 355;100302740
Gene Symbol: FAS;FAS-AS1
FAS;FAS-AS1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4406737
rs4406737
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
G 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. 26956414 2016
dbSNP: rs4406737
rs4406737
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
G 0.800 GeneticVariation GWASDB Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605 2013
dbSNP: rs4406737
rs4406737
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605 2013
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 9028957 1997
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. 17336828 2007
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1866119
Disease:
Autoimmune Lymphoproliferative Syndrome, Type IA
C 0.700 CausalMutation CLINVAR
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 10515860 1999
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885 1999
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 7540117 1995
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496 1999
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. 9322534 1997
dbSNP: rs121913076
rs121913076
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361 1996
dbSNP: rs121913077
rs121913077
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1866119
Disease:
Autoimmune Lymphoproliferative Syndrome, Type IA
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 9028957 1997
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 10515860 1999
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
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
dbSNP: rs121913078
rs121913078
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.700 GeneticVariation UNIPROT Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8929361 1996