Annotation Detail

Information
Associated Genes
RBM45
Associated Variants
RBM45 MUTATION
RBM45 MUTATION
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 )
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 )
Associated Disease
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes.
Pubmed
10553500
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0450593507653304
Year of publication
1999
Drugs