Annotation Detail
Information
- Associated Genes
- RNASEL
- Associated Variants
-
RNASEL MUTATION
RNASEL MUTATION
ELAC2 p.Glu622Val (p.E622V) ( ENST00000426905.7, ENST00000395962.6, ENST00000338034.9 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
RNASEL p.Asp541Glu (p.D541E) ( ENST00000367559.7, ENST00000539397.1 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000539397.1, ENST00000367559.7 )
ELAC2 p.Glu622Val (p.E622V) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
RNASEL p.Asp541Glu (p.D541E) ( ENST00000367559.7, ENST00000539397.1 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000367559.7, ENST00000539397.1 ) - Associated Disease
- Metastatic Prostate Carcinoma
- Source Database
- DisGeNET
- Description
- We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RNASEL (E265X, R462Q, D541E) in 150 European-Americans with metastatic prostate cancer and 170 prostate cancer-free controls using pyrosequencing assays.
- Pubmed
- 16114055
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs