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: rs7069750
rs7069750
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C1858558
Disease:
Rheumatoid Arthritis, Systemic Juvenile
C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs7069750
rs7069750
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0087031
Disease:
Juvenile-Onset Still Disease
C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs7069750
rs7069750
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C3890205
Disease:
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs7069750
rs7069750
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C3898105
Disease:
Oligoarticular Juvenile Idiopathic Arthritis
C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs1564696849
rs1564696849
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
A 0.700 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. 22237435 2012
dbSNP: rs9658736
rs9658736
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs9658736
rs9658736
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs9658736
rs9658736
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs121913080
rs121913080
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
C 0.700 GeneticVariation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
dbSNP: rs1554852244
rs1554852244
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease:
Muscle hypotonia
TCATG 0.700 CausalMutation CLINVAR A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. 21885602 2011
dbSNP: rs1554852244
rs1554852244
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease:
Muscle hypotonia
TCATG 0.700 CausalMutation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
dbSNP: rs1564699214
rs1564699214
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease:
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
G 0.700 CausalMutation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
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: 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: rs121913079
rs121913079
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: rs121913080
rs121913080
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: rs121913081
rs121913081
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: rs121913086
rs121913086
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: rs1554852244
rs1554852244
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease:
Muscle hypotonia
TCATG 0.700 CausalMutation CLINVAR Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 20360470 2010
dbSNP: rs1926203
rs1926203
Entrez Id: 59;355;57559
Gene Symbol: ACTA2;FAS;STAMBPL1
ACTA2;FAS;STAMBPL1
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
dbSNP: rs201072885
rs201072885
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: rs1926203
rs1926203
Entrez Id: 59;355;57559
Gene Symbol: ACTA2;FAS;STAMBPL1
ACTA2;FAS;STAMBPL1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.700 GeneticVariation GWASDB Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. 19654303 2009
dbSNP: rs1926203
rs1926203
Entrez Id: 59;355;57559
Gene Symbol: ACTA2;FAS;STAMBPL1
ACTA2;FAS;STAMBPL1
CUI: C0684249
Disease:
Carcinoma of lung
0.700 GeneticVariation GWASCAT Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. 19654303 2009
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: rs121913078
rs121913078
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