Annotation Detail

Information
Associated Genes
DUOX2
Associated Variants
DUOX2 MUTATION
DUOX2 MUTATION
Associated Disease
Endemic Cretinism
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
DisGENET score for the Gene Disease association
0.00597172118576667
Drugs