Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP9 p.Gln221Arg (p.Q221R)
(
ENST00000333868.10,
ENST00000546424.5,
ENST00000348549.9,
ENST00000375890.8 )
CASP10 p.Ser59= (p.S59=) ( ENST00000471191.2, ENST00000286186.11, ENST00000272879.9, ENST00000313728.12, ENST00000374650.8, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
CASP8 c.*845T>A ( ENST00000323492.11, ENST00000358485.8, ENST00000413726.6, ENST00000444430.3, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CASP3 c.*1296C>A ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 )
CASP3 c.*337T>C ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 )
CASP9 p.Gln221Arg (p.Q221R) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 )
CASP10 p.Ser59= (p.S59=) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000374650.8, ENST00000448480.1, ENST00000471191.2, ENST00000696199.1 )
CASP8 c.*845T>A ( ENST00000323492.11, ENST00000358485.8, ENST00000413726.6, ENST00000444430.3, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CASP3 c.*1296C>A ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 )
CASP3 c.*337T>C ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 ) - Associated Disease
- Lymphoma, Non-Hodgkin
- Source Database
- DisGeNET
- Description
- We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C>A (rs6948) and Ex8+567T>C (rs1049216)], CASP8 Ex14-271A>T (rs13113), CASP9 Ex5+32G>A (rs1052576) and CASP10 Ex3-171A>G (rs3900115) to determine whether they alter risk for non-Hodgkin lymphoma (NHL) in a population-based case-control study of women in Connecticut (461 cases and 535 controls).
- Pubmed
- 17071630
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0076439796799667
- Year of publication
- 2007
Drugs