Annotation Detail
Information
- Associated Genes
- RBM45
- Associated Variants
-
RBM45 MUTATION
RBM45 MUTATION - Associated Disease
- primary sclerosing cholangitis
- Source Database
- DisGeNET
- Description
- We incorporated data from HLA typing (HLA-A, -B, -C, -DRB3, -DRB1, -DQB1) and single nucleotide polymorphisms across the MHC (n = 18,644; genotyped and imputed) alongside previously suggested PSC risk determinants in the MHC, i.e. amino acid variation of DRβ, a MICA microsatellite polymorphism and HLA-C and HLA-B according to their ligand properties for killer immunoglobulin-like receptors.
- Pubmed
- 25521205
- Section of the abstract supporting the evidence
- METHODOLOGY/PRINCIPAL FINDINGS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
Drugs