BLNK, B cell linker, 29760

N. diseases: 80; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554906579
rs1554906579
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
CUI: C3150752
Disease:
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs773027640
rs773027640
Entrez Id: 9849;29760
Gene Symbol: ZNF518A;BLNK
ZNF518A;BLNK
CUI: C0152244
Disease:
Bone Cysts, Aneurysmal 		0.010 GeneticVariation BEFREE In vitro, MYD88 L265P mutation promoted p100 signaling through TAK1/IKKα and GSK3/Fbxw7a pathways, suggesting a novel role for this protein as an upstream regulator of p100. p100 signaling was engaged during activation of normal B cells, suggesting p100's role in ABC phenotype development. 28368397 2017