Annotation Detail
Information
- Associated Genes
- CASP9
- Associated Variants
-
CASP9 MUTATION
CASP9 MUTATION
PHGDH p.Trp506Arg (p.W506R) ( ENST00000641115.1, ENST00000641074.1, ENST00000369409.9, ENST00000641023.2, ENST00000641597.1 )
TNFRSF1B p.Met196Arg (p.M196R) ( ENST00000376259.7 )
CASP9 p.Leu106Phe (p.L106F) ( ENST00000333868.10, ENST00000375890.8, ENST00000348549.9, ENST00000546424.5 )
CASP9 p.Leu106Val (p.L106V) ( ENST00000348549.9, ENST00000375890.8, ENST00000546424.5, ENST00000333868.10 )
CASP9 p.Thr102Ile (p.T102I) ( ENST00000333868.10, ENST00000546424.5, ENST00000375890.8, ENST00000348549.9 )
MEGF6 p.Pro587Leu (p.P587L) ( ENST00000356575.9, ENST00000294599.8, ENST00000697102.1 )
MUTYH p.Trp100Arg (p.W100R), ENSG00000288208 p.Trp271Arg (p.W271R) ( ENST00000355498.6, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000529984.5, ENST00000372115.7, ENST00000488731.6, ENST00000713751.1, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000672818.3, ENST00000531105.5, ENST00000372110.7, ENST00000713750.1, ENST00000710952.2 )
DOK2 p.Ser394Ala (p.S394A) ( ENST00000276420.9 )
BNIP3L p.Gly69Ter (p.G69*) ( ENST00000380629.7, ENST00000518611.5, ENST00000520409.5, ENST00000523515.5 )
PHGDH p.Trp506Arg (p.W506R) ( ENST00000369409.9, ENST00000641023.2, ENST00000641074.1, ENST00000641115.1, ENST00000641597.1 )
TNFRSF1B p.Met196Arg (p.M196R) ( ENST00000376259.7 )
CASP9 p.Leu106Phe (p.L106F) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 )
CASP9 p.Leu106Val (p.L106V) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 )
CASP9 p.Thr102Ile (p.T102I) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 )
MEGF6 p.Pro587Leu (p.P587L) ( ENST00000294599.8, ENST00000356575.9, ENST00000697102.1 )
MUTYH p.Trp100Arg (p.W100R), ENSG00000288208 p.Trp271Arg (p.W271R) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
DOK2 p.Ser394Ala (p.S394A) ( ENST00000276420.9 )
BNIP3L p.Gly69Ter (p.G69*) ( ENST00000380629.7, ENST00000518611.5, ENST00000520409.5, ENST00000523515.5 ) - Associated Disease
- liver carcinoma
- Source Database
- DisGeNET
- Description
- Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphisms of EGFL3 (rs947345)A -->G, caspase 9 ( rs2308938) C-->G and PHGDH(rs1801955)T-->A, 5 of polymorphisms of E2F2(rs3218170) G-->A,4 of polymorphisms of MUTYH(rs1140507)T-->C and BNIP3L(rs1055806)G-->T, and 1 of polymorphism of TNFRSF1B (rs1061622)T-->G were detected by the chip in the tissues of 10 HCC.
- Pubmed
- 16109524
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00326723398662778
- Year of publication
- 2005
Drugs