DisGeNET - a database of gene-disease associations

FAS, Fas cell surface death receptor, 355

N. diseases: 754; N. variants: 47

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913079

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:

rs121913080

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:

rs121913081

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:

rs121913086

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:

rs201072885

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:

rs1564696849

Entrez Id:	355
Gene Symbol:	FAS

FAS

CUI:	C2674723
Disease:

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER

0.700

CausalMutation

CLINVAR

Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

15459303

2004

dbSNP:

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:

rs121913078

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:

rs121913079

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:

rs121913080

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:

rs121913081

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:

rs121913086

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:

rs201072885

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:

rs1554852244

Entrez Id:	355
Gene Symbol:	FAS

FAS

CUI:	C0026827
Disease:

Muscle hypotonia

TCATG

0.700

CausalMutation

CLINVAR

Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

10709732

2000

dbSNP:

rs1564696849

Entrez Id:	355
Gene Symbol:	FAS

FAS

CUI:	C2674723
Disease:

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER

0.700

CausalMutation

CLINVAR

Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.

10875918

2000

dbSNP:

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

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

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

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:

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

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

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:

rs121913078

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:

rs121913079

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:

rs121913079

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