Annotation Detail
Information
- Associated Genes
- HSPA1L
- Associated Variants
-
HSPA1L p.Thr493Met (p.T493M)
(
ENST00000375654.5 )
NC_000006.12:g.31815431A>C
HSPA1A c.-27G>C ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A c.-27G>T ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 )
HSPA1B p.Gly620= (p.G620=) ( ENST00000375650.5 )
HSPA1L p.Thr493Met (p.T493M) ( ENST00000375654.5 )
NC_000006.12:g.31815431A>C
HSPA1A c.-27G>C ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A c.-27G>T ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 )
HSPA1B p.Gly620= (p.G620=) ( ENST00000375650.5 ) - Associated Disease
- High altitude pulmonary edema
- Source Database
- DisGeNET
- Description
- We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HSPA1B (rs1061581 and rs539689) and HSPA1L (rs2227956) of Hsp70 family to explore their potential interaction upon susceptibility to HAPE in Chinese.
- Pubmed
- 19351530
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs