Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT MUTATION
KIT MUTATION - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes, including hypermethylated epigenomic signatures, tendency to occur in pediatric patients, and lack of KIT/PDGFRA mutations. dSDH GISTs often harbor deleterious mutations in SDH subunit genes (SDHA, SDHB, SDHC, and SDHD, termed SDHx), but some are SDHx wild type (WT).
- Pubmed
- 25540324
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.760239543636234
Drugs