DisGeNET - a database of gene-disease associations

Hyper-IgM Immunodeficiency Syndrome, Type 1, C0398689

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:

rs886039326

CD40LG

0.700

GeneticVariation

UNIPROT

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.

9150729

1997

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

8889581

1996

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

8550833

1996

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

8550833

1996

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

8889581

1996

dbSNP:

rs756468554

CD40LG

0.700

GeneticVariation

UNIPROT

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

8550833

1996

dbSNP:

rs756468554

CD40LG

0.700

GeneticVariation

UNIPROT

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

8889581

1996

dbSNP:

rs886039326

CD40LG

0.700

GeneticVariation

UNIPROT

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

8889581

1996

dbSNP:

rs886039326

CD40LG

0.700

GeneticVariation

UNIPROT

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

8550833

1996

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.

7532185

1995

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

7717401

1995

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

7717401

1995

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.

7532185

1995

dbSNP:

rs756468554

CD40LG

0.700

GeneticVariation

UNIPROT

Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.

7532185

1995

dbSNP:

rs756468554

CD40LG

0.700

GeneticVariation

UNIPROT

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

7717401

1995

dbSNP:

rs886039326

CD40LG

0.700

GeneticVariation

UNIPROT

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

7717401

1995

dbSNP:

rs886039326

CD40LG

0.700

GeneticVariation

UNIPROT

Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.

7532185

1995

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.

8094231

1993

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

7678782

1993

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

7679801

1993

dbSNP:

rs1057521127

CD40LG

0.700

GeneticVariation

UNIPROT

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

7679206

1993

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.

8094231

1993

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

7679801

1993

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

7678782

1993

dbSNP:

rs1477466218

CD40LG

0.700

GeneticVariation

UNIPROT

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

7679206

1993