Annotation Detail
Information
- Associated Genes
- HLA-DRB1
- Associated Variants
-
INS c.-23T>A, INS-IGF2 c.-17-6T>A
(
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000250971.7 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000250971.7, ENST00000381330.5, ENST00000397262.5 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles; for INS and protein tyrosine phosphatase, non-receptor type 22 gene polymorphisms (rs689 and rs2476601); and for diabetes-associated autoantibodies.
- Pubmed
- 25256132
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0260459451546349
- Year of publication
- 2014
Drugs