Annotation Detail

Information
Associated Genes
FGFR1
Associated Variants
FGFR1 MUTATION
FGFR1 MUTATION
Associated Disease
Central Core Myopathy (disorder)
Source Database
DisGeNET
Description
Therefore, RUNX2 signaling pathways with their partners TCF7 and FGFR1/2 may not be involved in CCD pathogenesis.
Pubmed
25738174
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
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs