Annotation Detail
Information
- Associated Genes
- PCNA
- Associated Variants
-
PCNA MUTATION
PCNA MUTATION - Associated Disease
- Beckwith-Wiedemann syndrome
- Source Database
- DisGeNET
- Description
- Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C gene (11p15.5) are associated with the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).
- Pubmed
- 25262539
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs