Annotation Detail
Information
- Associated Genes
- MSH3
- Associated Variants
-
MSH3 MUTATION
MSH3 MUTATION - Associated Disease
- Lubs X-linked mental retardation syndrome
- Source Database
- DisGeNET
- Description
- Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080).
- Pubmed
- 25749076
- 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
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs