Congenital Hypothyroidism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A hypothyroidism that is present at birth. (Human Disease Ontology, DOID_0050328)
External Link https://www.disgenet.org/browser/0/1/0/C0010308
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Genes

93 genes associated with the disease Congenital Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ADAMTSL1 ADAMTS-like 1
ADNP activity-dependent neuroprotector homeobox
ALB albumin
ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP5PD ATP synthase peripheral stalk subunit d
B3GLCT beta 3-glucosyltransferase
BGLAP bone gamma-carboxyglutamate (gla) protein
CDCA8 cell division cycle associated 8
CHD7 chromodomain helicase DNA binding protein 7
CNR2 cannabinoid receptor 2 (macrophage)
CSF1R colony stimulating factor 1 receptor
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1
DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17
DUOX1 dual oxidase 1
DUOX2 dual oxidase 2
DUOXA1 dual oxidase maturation factor 1
DUOXA2 dual oxidase maturation factor 2
EFNA5 ephrin-A5
EGR1 early growth response 1
ENO2 enolase 2 (gamma, neuronal)
EPHA5 EPH receptor A5
FOXE1 forkhead box E1
G6PD glucose-6-phosphate dehydrogenase
GATA6 GATA binding protein 6
GH1 growth hormone 1
GHR growth hormone receptor
GLIS3 GLIS family zinc finger 3
GNAS GNAS complex locus
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
HHEX hematopoietically expressed homeobox
HLA-A major histocompatibility complex, class I, A
IGF1 insulin-like growth factor 1 (somatomedin C)
IGSF1 immunoglobulin superfamily, member 1
INHBB inhibin, beta B
IYD iodotyrosine deiodinase
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KSR1 kinase suppressor of ras 1
LEP leptin
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MRAP melanocortin 2 receptor accessory protein
NBN nibrin
NCOR1 nuclear receptor corepressor 1
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NGFR nerve growth factor receptor
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NLGN3 neuroligin 3
NLRP2 NLR family, pyrin domain containing 2
NNT nicotinamide nucleotide transhydrogenase
NOS2 nitric oxide synthase 2, inducible
NRGN neurogranin (protein kinase C substrate, RC3)
PAX2 paired box 2
PAX8 paired box 8
PDCD6 programmed cell death 6
PDE4D phosphodiesterase 4D, cAMP-specific
PHPT1 phosphohistidine phosphatase 1
POU1F1 POU class 1 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRL prolactin
RUNX2 runt-related transcription factor 2
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A7 solute carrier family 26 (anion exchanger), member 7
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SOX3 SRY (sex determining region Y)-box 3
STAR steroidogenic acute regulatory protein
TBC1D24 TBC1 domain family, member 24
TG thyroglobulin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNF tumor necrosis factor
TPO thyroid peroxidase
TRAPPC9 trafficking protein particle complex 9
TRH thyrotropin-releasing hormone
TRHR thyrotropin-releasing hormone receptor
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTF1 transcription termination factor, RNA polymerase I
TTF2 transcription termination factor, RNA polymerase II
TUBB1 tubulin, beta 1 class VI
TXNRD2 thioredoxin reductase 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZBTB20 zinc finger and BTB domain containing 20