congenital hypothyroidism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A hypothyroidism that is present at birth. (Human Disease Ontology, DOID_0050328)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000851
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Genes

7 genes associated with the congenital hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
DUOX2 dual oxidase 2
GLIS3 GLIS family zinc finger 3
KMT2D lysine (K)-specific methyltransferase 2D
NKX2-1 NK2 homeobox 1
PDE4D phosphodiesterase 4D, cAMP-specific
THRA thyroid hormone receptor, alpha
TSHB thyroid stimulating hormone, beta