Annotation Detail
Information
- Associated Genes
- WRN
- Associated Variants
-
MGMT p.Leu84Phe (p.L84F)
(
ENST00000306010.8,
ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000651593.1, ENST00000306010.8 )
MGMT p.Lys178Arg (p.K178R) ( ENST00000306010.8, ENST00000651593.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000555836.5, ENST00000554280.5, ENST00000557450.5, ENST00000348520.10, ENST00000554913.5, ENST00000553264.5, ENST00000555055.6, ENST00000352127.11, ENST00000334553.11, ENST00000554974.5, ENST00000452929.6 )
ERCC1 c.525+33C>T ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.525+33C>A ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
XRCC4 c.894-1G>A ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
XRCC4 p.Ser309= (p.S309=) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
XRCC4 p.Ser309= (p.S309=) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Lys178Arg (p.K178R) ( ENST00000306010.8, ENST00000651593.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
ERCC1 c.525+33C>T ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.525+33C>A ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
XRCC4 c.894-1G>A ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
XRCC4 p.Ser309= (p.S309=) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
XRCC4 p.Ser309= (p.S309=) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 ) - Associated Disease
- Lymphoma, Follicular
- Source Database
- DisGeNET
- Description
- The following genotypes in combination with hair dye use before 1980 were associated with FL risk: BRCA2 rs144848 AC+CC [odds ratio (OR) (95% confidence interval (CI)) 3.28(1.27-8.50)], WRN rs1346044 TT [OR(95% CI) 2.70(1.30-5.65)], XRCC3 rs861539 CT+TT [OR(95% CI) 2.76(1.32-5.77)], XRCC4 rs1805377 GG [OR(95% CI) 2.07(1.10-3.90)] and rs1056503 TT [OR(95% CI) 2.17(1.16-4.07)], ERCC1 rs3212961 CC [OR(95% CI) 1.93(1.00-3.72)], RAD23B rs1805329 CC [OR(95% CI) 2.28(1.12-4.64)], and MGMT rs12917 CC, rs2308321 AA, and rs2308327 AA genotypes [OR(95% CI) 1.96(1.06-3.63), 2.02(1.09-3.75), and 2.23(1.16-4.29), respectively].
- Pubmed
- 25178586
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2014
Drugs