Annotation Detail

Information
Associated Genes
DUOX2
Associated Variants
DUOX2 MUTATION
DUOX2 MUTATION
Associated Disease
congenital hypothyroidism
Source Database
DisGeNET
Description
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
Pubmed
25248169
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,CTD_human,LHGDN
DisGENET score for the Gene Disease association
0.131420421670701
Drugs