Annotation Detail
Information
- Associated Genes
- HMGA2
- Associated Variants
-
HMGA2 MUTATION
HMGA2 MUTATION - Associated Disease
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- HMGA2 mRNA expression, especially variant 1 with 3'UTR that contains MIRLET7-specific sites, rather than variant 2 lacking 3'UTR, is frequently deregulated due to decreased MIRLET7 expression in granulocytes from over 20% of PV and ET, and in either granulocytes or CD34(+) cells from 100% of PMF.
- Pubmed
- 25236537
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs