Annotation Detail
Information
- Associated Genes
- SHMT1
- Associated Variants
-
SHMT2 p.Lys269Glu (p.K269E)
(
ENST00000449049.7,
ENST00000328923.8,
ENST00000557487.5,
ENST00000553474.5,
ENST00000414700.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SHMT2 p.Lys269Glu (p.K269E) ( ENST00000328923.8, ENST00000414700.7, ENST00000449049.7, ENST00000553474.5, ENST00000557487.5 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 ) - Associated Disease
- Cancer of Head and Neck
- Source Database
- DisGeNET
- Description
- We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk.
- Pubmed
- 22051736
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2012
Drugs