Annotation Detail
Information
- Associated Genes
- UBASH3A
- Associated Variants
-
PTPN22 p.Trp620Arg (p.W620R)
(
ENST00000525799.1,
ENST00000538253.5,
ENST00000420377.6,
ENST00000528414.5,
ENST00000460620.5,
ENST00000359785.10 )
UBASH3A c.668-365G>A ( ENST00000291535.11, ENST00000319294.11, ENST00000398367.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
UBASH3A c.668-365G>A ( ENST00000291535.11, ENST00000319294.11, ENST00000398367.1 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4 and UBASH3A rs11203203 AA developed diabetes by age 15, compared with 3% of children with all other genotypes (p<0.0001).
- Pubmed
- 25075402
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2015
Drugs