DisGeNET - a database of gene-disease associations

Source: ALL

Disease: X-linked agammaglobulinemia ×

Gene: BTK ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

Biomarker

GENOMICS_ENGLAND

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

26350204

2015

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

Biomarker

GENOMICS_ENGLAND

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Although allelic heterogeneity at the BTK locus may partly explain clinical variability in families with XLA, compensatory and redundant mechanisms involved in B-cell development must play a role in the phenotypic diversity of the disease.

7711734

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

These studies document the considerable variability in the Btk mutations causing XLA and they demonstrate an approach that will be useful for carrier detection as well as mutation identification.

7849697

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

10220140

1999

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

10678660

2000

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

This technique has provided a powerful tool for direct analysis of the Btk gene for the diagnosis of XLA and carrier detection.

7627183

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

We have analyzed the Btk gene in six XLA patients from five unrelated families.

9260159

1997

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

7849721

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Here we report the characterization of mutations in the btk gene of five unrelated XLA families.

8162018

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

7880320

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

7633429

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

7633420

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

The absence of kinase activity seen in 32 of the families underscored the importance of Btk protein analysis as a diagnostic indicator of XLA.

8695804

1996

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK).

9016530

1997

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

We have analyzed the btk gene of a patient with XLA and IGHD.

8013627

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

We have utilized the technique of single strand conformation polymorphism (SSCP) analysis for the btk gene to identify mutations in XLA patients.

8162056

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.

8634718

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

7849006

1995

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA.

7809124

1994

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Mutations in Bruton's tyrosine kinase (Btk) belonging to the Tec family cause X-linked agammaglobulinemia (XLA) due to developmental arrest of B cells.

9280283

1997

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

We report 12 abnormalities of the Btk gene found in 12 unrelated families out of 14 XLA families in Japan and their clinical features.

8834236

1996

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

Mutations in btk in patients with presumed X-linked agammaglobulinemia.

9545398

1998

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

All but 5 of the 56 index patients with XLA screened with SSCP analysis showed BTK gene abnormalities, and in 2 of the 5 SSCP-negative patients, no BTK protein was found by Western blot analysis.

9445504

1998

Entrez Id:	695
Gene Symbol:	BTK

BTK

CUI:	C0221026
Disease:	X-linked agammaglobulinemia

X-linked agammaglobulinemia

1.000

GeneticVariation

UNIPROT

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK).

8594569

1996