Annotation Detail
Information
- Associated Genes
- HHIP
- Associated Variants
-
HYKK c.337+256T>C
(
ENST00000569878.5,
ENST00000566332.5,
ENST00000388988.9 )
ENSG00000285713 c.328-148608G>A
HYKK c.337+256T>C ( ENST00000388988.9, ENST00000566332.5, ENST00000569878.5 )
ENSG00000285713 c.328-148608G>A - Associated Disease
- pulmonary emphysema
- Source Database
- DisGeNET
- Description
- We found strong genetic associations between the mild upper zone emphysema group and rs1980057 near HHIP, and between the severe emphysema group and rs8034191 in the chromosome 15q region (p<0.001).
- Pubmed
- 24563194
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs