Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Trp393Gly (p.W393G)
(
ENST00000342245.9,
ENST00000527275.5 )
SMPD1 p.Trp393Gly (p.W393G) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Mental disorders
- Source Database
- DisGeNET
- Description
- All affected subjects were homozygous for the same ancestral mutation, W391G in SMPD1, yet displayed the entire spectrum of phenotypic variation observed previously in unrelated affected subjects of diverse ethnicity and disease-causing mutations, ranging from subclinical retinal involvement to severe ataxia, cognitive deficits and psychiatric disorders.
- Pubmed
- 17360762
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs