b cell linker protein deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. (Human Disease Ontology, DOID_0060027)
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Genes

8 genes co-occuring with the disease b cell linker protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BLNK B-cell linker 2.23992
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 1.38428
STAT5B signal transducer and activator of transcription 5B 1.02945
IGHV5-51 immunoglobulin heavy variable 5-51 0.954525
JAK3 Janus kinase 3 0.85404
SYK spleen tyrosine kinase 0.718846
BCR breakpoint cluster region 0.500379
CD5 CD5 molecule 0.413527