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 Diseases
- Source Database
- DisGeNET
- Description
- We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.
- Pubmed
- 23188845
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266098145806366
- Year of publication
- 2014
Drugs