Annotation Detail

Information
Associated Genes
RUNX1
Associated Variants
RUNX1 MUTATION
RUNX1 MUTATION
Associated Disease
Chronic intestinal pseudo-obstruction
Source Database
DisGeNET
Description
Some patients with CIPO carry mutations in RAD21 that disrupt the ability of its product to regulate genes such as RUNX1 and APOB.
Pubmed
25575569
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
15
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs