| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.320 | Biomarker | disease | GENOMICS_ENGLAND | Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. | 27016798 | 2016 | ||||
|
0.320 | Biomarker | disease | BEFREE | Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. | 27250108 | 2016 | ||||
|
0.320 | GeneticVariation | disease | BEFREE | Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. | 27016798 | 2016 |