Annotation Detail

Information
Associated Genes
MUC1
Associated Variants
PEMT c.204+9059C>T ( ENST00000435340.6, ENST00000255389.10, ENST00000395781.6, ENST00000395782.5, ENST00000395783.5 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
PEMT c.204+9059C>T ( ENST00000255389.10, ENST00000395781.6, ENST00000395782.5, ENST00000395783.5, ENST00000435340.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in these Han Chinese.
Pubmed
25074646
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs