Annotation Detail
Information
- Associated Genes
- ELN
- Associated Variants
-
MTHFR p.Ala263Val (p.A263V)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000423400.7,
ENST00000641407.1,
ENST00000641820.1 )
ELN c.196+71G>A ( ENST00000252034.12, ENST00000320399.10, ENST00000320492.11, ENST00000357036.9, ENST00000380553.8, ENST00000380562.8, ENST00000380575.8, ENST00000380576.9, ENST00000380584.8, ENST00000414324.5, ENST00000429192.5, ENST00000445912.5, ENST00000458204.5, ENST00000621115.4, ENST00000692049.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
ELN c.196+71G>A ( ENST00000252034.12, ENST00000320399.10, ENST00000320492.11, ENST00000357036.9, ENST00000380553.8, ENST00000380562.8, ENST00000380575.8, ENST00000380576.9, ENST00000380584.8, ENST00000414324.5, ENST00000429192.5, ENST00000445912.5, ENST00000458204.5, ENST00000621115.4, ENST00000692049.1 ) - Associated Disease
- macular degeneration
- Source Database
- DisGeNET
- Description
- In contrast, there were significant differences in the genotype distribution between the controls and nAMD patients only for rs2301995 (ELN, p=0.022) and rs1801133 (MTHFR, p=2.50×10(-3)).
- Pubmed
- 22065928
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2011
Drugs