DisGeNET - a database of gene-disease associations

Autoimmune Lymphoproliferative Syndrome, C1328840

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913076

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913078

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913079

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913080

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913081

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913086

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs201072885

FAS

0.700

GeneticVariation

UNIPROT

The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

20935634

2010

dbSNP:

rs121913076

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913078

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913079

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913080

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913081

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913086

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs201072885

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

17336828

2007

dbSNP:

rs121913076

FAS

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

FAS

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

FAS

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

FAS

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

FAS

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

FAS

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

FAS

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

FAS

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

FAS

0.700

GeneticVariation

UNIPROT

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

10515860

1999

dbSNP:

rs121913076

FAS

0.700

GeneticVariation

UNIPROT

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

10090885

1999

dbSNP:

rs121913076

FAS

0.700

GeneticVariation

UNIPROT

The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

9927496

1999