Annotation Detail
Information
- Associated Genes
- HSPA1A
- Associated Variants
-
HSPA1L p.Thr493Met (p.T493M)
(
ENST00000375654.5 )
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 )
HSPA1L p.Thr493Met (p.T493M) ( ENST00000375654.5 )
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 ) - Associated Disease
- Leukemia, Lymphocytic, Acute, L1
- Source Database
- DisGeNET
- Description
- To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we examined the three functional single nucleotide polymorphisms (SNPs) rs2227956 (T493M) in HSPA1L, rs1043618 in HSPA1A 5'UTR, and rs1061581 (Q351Q) in HSPA1B by TaqMan assays or polymerase chain reaction-restriction fragment length polymorphism in 114 ALL cases and 414 controls from Wales (UK), in 100 Mexican Mestizo ALL cases and 253 controls belonging to the same ethnic group, and in a panel of 82 HLA-typed reference cell line samples.
- Pubmed
- 20012387
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs