Annotation Detail
Information
- Associated Genes
- PECAM1
- Associated Variants
-
PECAM1 MUTATION
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 ) - Associated Disease
- acute promyelocytic leukemia
- Source Database
- DisGeNET
- Description
- The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.
- Pubmed
- 17704297
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2007
Drugs