Annotation Detail

Information
Associated Genes
ZFPM2
Associated Variants
ZFPM2 MUTATION
ZFPM2 MUTATION
Associated Disease
tetralogy of Fallot
Source Database
DisGeNET
Description
In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), 37 double-outlet ventricle outflow (DORV), and 18 transposition of the great artery (TGA), to investigate exon mutations as well as copy number variations in ZFPM2/FOG2.
Pubmed
25025186
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
5
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.561900093104562
Drugs