| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.440 | GeneticVariation | disease | GWASCAT | Overexpression of the Cytokine BAFF and Autoimmunity Risk. | 28445677 | 2017 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). | 22194214 | 2012 | ||||
|
0.440 | AlteredExpression | disease | BEFREE | These data link expression of FOXP3, CBLB and ITCH mRNA and CTLA-4 expression on the surface of CD4(+) CD25(high) T cell in MS. We hypothesize that this may reflect alterations in the inhibitory effect of CTLA-4 or in regulatory T cell function. | 23039885 | 2012 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | These data provide further evidence of the association of MS disease with variation within CBLB. | 21037273 | 2011 | ||||
|
0.440 | Biomarker | disease | BEFREE | CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis. | 20453840 | 2010 | ||||
|
0.440 | GeneticVariation | disease | GWASCAT | Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. | 20453840 | 2010 | ||||
|
0.440 | GeneticVariation | disease | GWASDB | Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. | 20453840 | 2010 | ||||
|
0.440 | Biomarker | disease | CTD_human | Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. | 20453840 | 2010 |