Annotation Detail

Information
Associated Genes
HLA-DRB1
Associated Variants
HLA-DRB1 MUTATION
HLA-DRB1 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,GAD
DisGENET score for the Gene Disease association
0.00581983144552528
Drugs