Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
VDR c.1024+283G>A
(
ENST00000395324.6,
ENST00000549336.6,
ENST00000550325.5,
ENST00000229022.9 )
VDR p.? (p.?) ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000549336.6, ENST00000395324.6, ENST00000550325.5 )
rs11568820 ( ENST00000395324.6 )
PTPN2 c.858+4862T>C ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000645191.1, ENST00000646492.1 )
PTPN2 c.261+814A>G ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000645191.1, ENST00000646492.1 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
rs11568820 ( ENST00000395324.6 )
PTPN2 c.858+4862T>C ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000645191.1, ENST00000646492.1 )
PTPN2 c.261+814A>G ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000645191.1, ENST00000646492.1 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Of the 1692 DAISY children genotyped for VDR rs1544410, VDR rs2228570, VDR rs11568820, PTPN2 rs1893217, and PTPN2 rs478582, 111 developed IA, defined as positivity for GAD, insulin or IA-2 autoantibodies on 2 or more consecutive visits, and 38 IA positive children progressed to T1D.
- Pubmed
- 22960018
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.370897400969869
- Year of publication
- 2013
Drugs