abnormality of thyroid physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal functionality of the thyroid gland. (Human Phenotype Ontology, HP_0002926)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002926
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Genes

121 genes associated with the abnormality of thyroid physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACP5 acid phosphatase 5, tartrate resistant
ADA adenosine deaminase
ALMS1 Alstrom syndrome protein 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CP ceruloplasmin (ferroxidase)
CTNS cystinosin, lysosomal cystine transporter
DCLRE1C DNA cross-link repair 1C
DIO1 deiodinase, iodothyronine, type I
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
FBLN5 fibulin 5
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXI1 forkhead box I1
FOXP3 forkhead box P3
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLIS3 GLIS family zinc finger 3
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HPD 4-hydroxyphenylpyruvate dioxygenase
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IYD iodotyrosine deiodinase
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KISS1R KISS1 receptor
KMT2D lysine (K)-specific methyltransferase 2D
LEPR leptin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP4 low density lipoprotein receptor-related protein 4
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NIN ninein (GSK3B interacting protein)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
PAX8 paired box 8
PDE4D phosphodiesterase 4D, cAMP-specific
PMM2 phosphomannomutase 2
POU1F1 POU class 1 homeobox 1
PRDM16 PR domain containing 16
PROP1 PROP paired-like homeobox 1
PTEN phosphatase and tensin homolog
RAB40AL RAB40A, member RAS oncogene family-like
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SALL1 spalt-like transcription factor 1
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHH sonic hedgehog
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SOX3 SRY (sex determining region Y)-box 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TF transferrin
TG thyroglobulin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TPO thyroid peroxidase
TRH thyrotropin-releasing hormone
TRHR thyrotropin-releasing hormone receptor
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WFS1 Wolfram syndrome 1 (wolframin)