Annotation Detail
Information
- Associated Genes
- PECAM1
- Associated Variants
-
PECAM1 MUTATION
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
SELL p.Pro213Ser (p.P213S) ( ENST00000236147.6, ENST00000650983.1 )
SELL p.Pro213Thr (p.P213T) ( ENST00000650983.1, ENST00000236147.6 )
PECAM1 p.Arg670Gly (p.R670G) ( ENST00000563924.6 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
SELL p.Pro213Ser (p.P213S) ( ENST00000236147.6, ENST00000650983.1 )
SELL p.Pro213Thr (p.P213T) ( ENST00000236147.6, ENST00000650983.1 ) - Associated Disease
- Chronic graft-versus-host disease
- Source Database
- DisGeNET
- Description
- We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs1131012) and SELL (rs2229569) genes with acute and chronic graft-versus-host disease (GvHD) and those experiencing transplant-related mortality (TRM) within 1 year among 425 allogeneic HCT recipient-donor pairs.
- Pubmed
- 22646485
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs