Annotation Detail
Information
- Associated Genes
- HMCN1
- Associated Variants
-
HMCN1 p.Gln5345Arg (p.Q5345R)
(
ENST00000271588.9 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls.
- Pubmed
- 14968411
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0164358590216495
- Year of publication
- 2004
Drugs