Basic information of CBLB :
| Official Symbol of Gene | CBLB |
| Species | Homo sapiens |
| Entrez Gene ID | 868 |
| Official Full Name | Cbl proto-oncogene B |
| Also known as | Cbl-b; RNF56; Nbla00127 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000114423 MIM:604491; AllianceGenome:HGNC:1542 |
| Map Location | 3q13.11 |
| Variation Type | SNP |
| refSNP ID | rs9657904 |
Sample information of multiple sclerosis:
| Detected Sample | N/A |
| Sample Detail | N/A |
| Detected Method | N/A |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 20453840 |
| Year | 2010 |
| Title | Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result |
A genome-wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 × 10 |
| Mechanism/Pathway | rs9657904 might affect CBLB splicing and/or transcription reguation and could provide mechanistic clues for the observed disease association. |
