Annotation Detail

Information
Associated Genes
BICD1
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).
Pubmed
25154699
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2014
Drugs