BLNK, B cell linker, 29760

N. diseases: 80; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.050 AlteredExpression disease BEFREE SLP-65 controls not only B lymphopoiesis and humoral immunity but also possesses a yet poorly defined tumor suppressor activity that is lost in many cases of acute lymphoblastic leukemia. 16912232 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.050 Biomarker disease BEFREE B Cell Linker Protein (BLNK) Is a Selective Target of Repression by PAX5-PML Protein in the Differentiation Block That Leads to the Development of Acute Lymphoblastic Leukemia. 26703467 2016
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.050 Biomarker disease BEFREE These results indicate that BLNK deficiency is a rare occurrence in childhood B-lineage ALL and is unlikely to be a common leukemogenic event as previously proposed. 15029213 2004
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.050 Biomarker disease BEFREE SLP65 represents a critical component in (pre-) B cell receptor signal transduction but is compromised in a subset of pre-B cell-derived acute lymphoblastic leukemia. 16568084 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.050 AlteredExpression disease BEFREE SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells. 16636677 2006
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE These results indicate that BLNK deficiency is a rare occurrence in childhood B-lineage ALL and is unlikely to be a common leukemogenic event as previously proposed. 15029213 2004
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		0.010 AlteredExpression disease BEFREE Aberrant T-cell/B-cell antigen (TCA/BCA) expression in cHL/ALCL has previously been reported, but differences in the broader morphologic and genetic features still remain unclear. 30339972 2019
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE Based on these findings, we investigated (i.) whether SLP65-deficiency also occurs in mature B cell-derived lymphoma and (ii.) whether SLP65-deficient B cell lymphoma cells use an alternative B cell receptor signaling pathway in the absence of SLP65. 16568084 2006
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 GeneticVariation disease BEFREE We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. 25893637 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease CTD_human
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease GENOMICS_ENGLAND Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. 25893637 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease HPO
CUI: C3150752
Disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE 		0.400 CausalMutation disease CLINVAR
CUI: C3150752
Disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE 		0.400 Biomarker disease GENOMICS_ENGLAND Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. 25893637 2015
CUI: C1832241
Disease: Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, non-Bruton type 		0.300 GermlineCausalMutation disease ORPHANET An essential role for BLNK in human B cell development. 10583958 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE <b>Abbreviation used:</b> Aβ25-35: Amyloid-β 25-35; AD: Alzheimer's disease; BCA: Bicinchoninic acid; GSH: glutathione; PBS: Phosphate buffered solution; SDS: Sodium dodecylsulphate; SOD: Superoxide dismutase. 28216895 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		0.110 Biomarker disease BEFREE This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency. 25893637 2015
CUI: C0003864
Disease: Arthritis
Arthritis 		0.110 Biomarker disease HPO
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 AlteredExpression group BEFREE Moreover, we observed consistent expression of phosphorylated BLNK, an activated BCR adaptor protein, in human B cell lymphomas. 17717600 2007
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 AlteredExpression group BEFREE Indeed, expression of SLP65 protein was also missing in a fraction of B cell lymphoma cases. 16568084 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE Taken together, the data suggest that AT1R, AT2R or Mas could be used as a diagnostic marker of BCa and AT2R is a promising novel target gene for BCa gene therapy. 28599664 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE Taken together, the data suggest that AT1R, AT2R or Mas could be used as a diagnostic marker of BCa and AT2R is a promising novel target gene for BCa gene therapy. 28599664 2017