Congenital hypothyroidism | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATHYREOSIS	MONDO:0019855	NKX2-5	Unknown	16418214 25905381	GWAS catalog	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		PAX8	Unknown	25905381	CTD	Thyroid hormone synthesis Pathways in cancer Transcriptional misregulation in cancer +1 more
		SLC26A4	Unknown	24248179	Disgenet	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)
		TSHR	Unknown	14725684	GenCC	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
CONGENITAL HYPOTHYROIDISM	C0010308 MESH:D003409	DUOXA2	Unknown	—	Disgenet	Thyroid hormone synthesis
		IGSF1	Unknown	23143598	CTD, Disgenet	TGF-beta signaling pathway
		IYD	Unknown	—	Disgenet	Thyroid hormone synthesis Thyroxine biosynthesis
		NKX2-5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		THRA	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Hormone signaling Thyroid hormone signaling pathway +2 more
		TSHB	Unknown	27362444 2792087	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +8 more