Annotation Detail
Information
- Associated Genes
- MRTFA
- Associated Variants
-
MRTFA MUTATION
MRTFA MUTATION - Associated Disease
- Primary immune deficiency disorder
- Source Database
- DisGeNET
- Description
- Together, our results show that MKL1 is a nonredundant regulator of cytoskeleton-associated functions in immune cells and fibroblasts and that its depletion underlies a novel human primary immunodeficiency.
- Pubmed
- 26224645
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs