Annotation Detail
Information
- Associated Genes
- NOTCH2
- Associated Variants
-
NOTCH2 MUTATION
NOTCH2 MUTATION - Associated Disease
- Serpentine fibula polycystic kidney syndrome
- Source Database
- DisGeNET
- Description
- We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifestations associated with truncating mutations in exon 34 of NOTCH2.
- Pubmed
- 25696021
- 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
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs