Annotation Detail
Information
- Associated Genes
- NOTCH2
- Associated Variants
-
NOTCH2 MUTATION
NOTCH2 MUTATION - Associated Disease
- cholestasis
- Source Database
- DisGeNET
- Description
- Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations.
- Pubmed
- 25016221
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs