Annotation Detail
Information
- Associated Genes
- NOTCH2
- Associated Variants
-
NOTCH2 MUTATION
NOTCH2 MUTATION - Associated Disease
- tetralogy of Fallot
- Source Database
- DisGeNET
- Description
- We used primary cells derived from the RV of infants with TOF to show a direct link between scaRNA levels and splice isoforms of several genes that regulate heart development (e.g., GATA4, NOTCH2, DAAM1, DICER1, MBNL1 and MBNL2).
- Pubmed
- 25916634
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs