Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Arg542Ter (p.R542*)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Arg542Ter (p.R542*) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick disease, type B
- Source Database
- DisGeNET
- Description
- R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.
- Pubmed
- 23188845
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56516732709119
- Year of publication
- 2014
Drugs