Annotation Detail

Information
Associated Genes
GART
Associated Variants
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
GART p.Asp752Gly (p.D752G) ( ENST00000381815.9, ENST00000381831.7, ENST00000381839.7 )
ALDH1L1 p.Asp803Gly (p.D803G) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 )
MTRR p.Arg415Cys (p.R415C) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
GART p.Asp752Gly (p.D752G) ( ENST00000381815.9, ENST00000381831.7, ENST00000381839.7 )
ALDH1L1 p.Asp803Gly (p.D803G) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 )
MTRR p.Arg415Cys (p.R415C) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
liver carcinoma
Source Database
DisGeNET
Description
Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTHFD rs1127717, GART rs8971, and SHMT rs1979277) were significantly associated with HCC risk in Chinese population, with P values range from 2.26 × 10(-4) to 0.035).
Pubmed
25318605
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs