Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Gln294Lys (p.Q294K)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Trp393Gly (p.W393G) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Gln294Lys (p.Q294K) ( ENST00000342245.9, ENST00000527275.5 )
SMPD1 p.Trp393Gly (p.W393G) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs