Annotation Detail
Information
- Associated Genes
- CASP1
- Associated Variants
-
CASP1 p.Thr207Ile (p.T207I)
(
ENST00000695718.1,
ENST00000695720.1,
ENST00000534497.5,
ENST00000695719.1,
ENST00000526568.5,
ENST00000533400.6,
ENST00000695722.1,
ENST00000531166.5,
ENST00000695721.1,
ENST00000695715.1,
ENST00000525825.6,
ENST00000527979.5,
ENST00000436863.7,
ENST00000695717.1,
ENST00000528974.1 )
CASP1 p.Thr207Ile (p.T207I) ( ENST00000436863.7, ENST00000525825.6, ENST00000526568.5, ENST00000527979.5, ENST00000528974.1, ENST00000531166.5, ENST00000533400.6, ENST00000534497.5, ENST00000695715.1, ENST00000695717.1, ENST00000695718.1, ENST00000695719.1, ENST00000695720.1, ENST00000695721.1, ENST00000695722.1 ) - Associated Disease
- neuroblastoma
- Source Database
- DisGeNET
- Description
- Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-SOD1s (G37R, G85R, and I113T) cocultured with glioblastoma lines expressing the corresponding mutant enzymes.
- Pubmed
- 15208263
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2004
Drugs