Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 355
Gene Symbol: FAS
FAS
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
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
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
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
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
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
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
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
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
Autoimmune Lymphoproliferative Syndrome
1.000 GeneticVariation UNIPROT One ALPS patient lacked a Fas gene mutation. 9028957

1997

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

1995

Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation UNIPROT

Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.540 GeneticVariation UNIPROT