Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP8 MUTATION
CASP8 MUTATION
CASP9 p.Gln221Arg (p.Q221R) ( ENST00000333868.10, ENST00000546424.5, ENST00000348549.9, ENST00000375890.8 )
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 )
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
- multiple myeloma
- Source Database
- DisGeNET
- Description
- To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes [CASP3 Ex8-280 C > A (rs6948), CASP3 Ex8 + 567 T > C (rs1049216), CASP8 Ex14-271 A > T (rs13113), CASP9 Ex5 + 32 G > A (rs1052576), CASP10 Ex3-171 A > G (rs39001150)] alter multiple myeloma risk, we conducted a population-based case-control study of women (128 cases; 516 controls) in Connecticut.
- Pubmed
- 18381704
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00644859158147072
- Year of publication
- 2008
Drugs