Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6929
Gene Symbol: TCF3
TCF3
0.300 GermlineCausalMutation disease ORPHANET A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. 24216514 2013
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
0.300 GermlineCausalMutation disease ORPHANET Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933 2012
Entrez Id: 974
Gene Symbol: CD79B
CD79B
0.300 GermlineCausalMutation disease ORPHANET Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. 17675462 2007
Entrez Id: 974
Gene Symbol: CD79B
CD79B
0.300 GermlineCausalMutation disease ORPHANET Mutations of the Igbeta gene cause agammaglobulinemia in man. 17709424 2007
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A
0.300 GermlineCausalMutation disease ORPHANET A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. 14660746 2003
Entrez Id: 973
Gene Symbol: CD79A
CD79A
0.300 GermlineCausalMutation disease ORPHANET Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. 11920841 2002
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
0.300 GermlineCausalMutation disease ORPHANET An essential role for BLNK in human B cell development. 10583958 1999
Entrez Id: 3543
Gene Symbol: IGLL1
IGLL1
0.300 GermlineCausalMutation disease ORPHANET Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 9419212 1998
Entrez Id: 3507
Gene Symbol: IGHM
IGHM
0.300 GermlineCausalMutation disease ORPHANET Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 8890099 1996