DisGeNET - a database of gene-disease associations

X-Linked Lymphoproliferative Disorder, C0549463

Gene: SH2D1A ×

Source: UNIPROT ×

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:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.

16720617

2006

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.

16720617

2006

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.

16720617

2006

dbSNP:

rs111033630

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.

16720617

2006

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

15841490

2005

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

15841490

2005

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

15841490

2005

dbSNP:

rs111033630

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

15841490

2005

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

12458214

2003

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Disease-causing SAP mutants are defective in ligand binding and protein folding.

14674764

2003

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Disease-causing SAP mutants are defective in ligand binding and protein folding.

14674764

2003

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

12458214

2003

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

12458214

2003

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Disease-causing SAP mutants are defective in ligand binding and protein folding.

14674764

2003

dbSNP:

rs111033630

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Disease-causing SAP mutants are defective in ligand binding and protein folding.

14674764

2003

dbSNP:

rs111033630

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

12458214

2003

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

"A ""three-pronged"" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."

11823424

2002

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

"A ""three-pronged"" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."

11823424

2002

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

"A ""three-pronged"" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."

11823424

2002

dbSNP:

rs111033630

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

"A ""three-pronged"" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."

11823424

2002

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.

11493483

2001

dbSNP:

rs111033624

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

11477068

2001

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.

11493483

2001

dbSNP:

rs111033626

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

11477068

2001

dbSNP:

rs111033627

SH2D1A ; STAG2

0.700

GeneticVariation

UNIPROT

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

11477068

2001