Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Arg602His (p.R602H)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Arg602His (p.R602H) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Niemann-Pick Diseases
- Source Database
- DisGeNET
- Description
- For this purpose, we have used cultured Niemann-Pick disease (NPD) lymphoid cells with a defined mutation (R600H) in the aSMase protein.
- Pubmed
- 9516458
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266098145806366
- Year of publication
- 1998
Drugs