Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 MUTATION
MSH6 MUTATION - Associated Disease
- sebaceous adenoma
- Source Database
- DisGeNET
- Description
- Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficiency, comprising 17 (65.4%) SAs (MSH2/MSH6 loss in 12, MLH1/PMS2 loss in 3, MSH6 loss only in 2 cases) and 1 (16.7%) SC (MLH1/PMS2 loss).
- Pubmed
- 25457183
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs