Annotation Detail
Information
- Associated Genes
- HRAS
- Associated Variants
-
HRAS MUTATION
HRAS MUTATION - Associated Disease
- Costello syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly(12) promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades.
- Pubmed
- 25367099
- 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,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.454657861092336
Drugs