Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 MUTATION
PMS2 MUTATION - Associated Disease
- Turcot syndrome (disorder)
- Source Database
- DisGeNET
- Description
- A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
- Pubmed
- 25691505
- 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,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.484071628081205
Drugs