Annotation Detail
Information
- Associated Genes
- HMCN1
- Associated Variants
-
SELE p.Ser149Arg (p.S149R)
(
ENST00000333360.12,
ENST00000367775.5,
ENST00000367777.5,
ENST00000367776.5,
ENST00000367774.1 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
SELE p.Ser149Arg (p.S149R) ( ENST00000333360.12, ENST00000367774.1, ENST00000367775.5, ENST00000367776.5, ENST00000367777.5 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD.
- Pubmed
- 17057786
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0164358590216495
- Year of publication
- 2005
Drugs