Annotation Detail

Information
Associated Genes
MRTFA
Associated Variants
MRTFA MUTATION
MRTFA MUTATION
Associated Disease
Bacterial Infections
Source Database
DisGeNET
Description
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Pubmed
26224645
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
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs