Annotation Detail
Information
- Associated Genes
- HRAS
- Associated Variants
-
HRAS MUTATION
HRAS MUTATION - Associated Disease
- Costello syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.
- Pubmed
- 25133308
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.454657861092336
Drugs