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: 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 GENOMICS_ENGLAND Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. 25893637 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease CTD_human
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.610 Biomarker disease HPO
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: C3150752
Disease: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE 		0.400 CausalMutation disease CLINVAR
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: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.300 Biomarker disease CTD_human
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: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0007642
Disease: Cellulitis
Cellulitis 		0.100 Biomarker phenotype HPO
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0025289
Disease: Meningitis
Meningitis 		0.100 Biomarker disease HPO