Annotation Detail
Information
- Associated Genes
- VEGFA
- Associated Variants
-
VEGFA MUTATION
VEGFA MUTATION - Associated Disease
- Niemann-Pick disease, type C
- Source Database
- DisGeNET
- Description
- Overall, these results reveal a pathogenic mechanism in NP-C neurons where defective SphK activity is due to impaired VEGF levels.
- Pubmed
- 25417698
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs