Annotation Detail
Information
- Associated Genes
- FAM13A
- Associated Variants
-
BICD1 c.214-1015A>G
(
ENST00000652176.1,
ENST00000548411.6 )
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 )
BICD1 c.214-1015A>G ( ENST00000548411.6, ENST00000652176.1 )
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 ) - Associated Disease
- pulmonary emphysema
- Source Database
- DisGeNET
- Description
- The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1).
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
- Pubmed
- 25154699
- Original source reporting the Gene Disease association
- BeFree
Drugs