Gene: BTK ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT These data support the high molecular heterogeneity of BTK gene in XLA disease and provide new insight to the diagnosis and to the role of BTK domain in XLA and in B cell signal transduction and development.Hum Mutat 15:117, 2000. 10612838 2000
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398 1998
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT We have analyzed the Btk gene in six XLA patients from five unrelated families. 9260159 1997
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). 8594569 1996
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease UNIPROT Sequencing of exon 10 from two boys with XLA demonstrated a novel point mutation in the SH2 domain of BTK. 8723128 1996
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). 7633420 1995
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006 1995
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease UNIPROT A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia. 7897635 1995
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721 1994
Entrez Id: 695
Gene Symbol: BTK
BTK 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT We have analyzed the btk gene of a patient with XLA and IGHD. 8013627 1994