Annotation Detail

Information
Associated Genes
RBM45
Associated Variants
RBM45 MUTATION
RBM45 MUTATION
Associated Disease
mixed connective tissue disease
Source Database
DisGeNET
Description
Novel HLA alleles associated with MCTD and disease subsets were identified and DRB1*04:01 was confirmed as a major risk allele.
Pubmed
25187641
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs