abnormality of the thyroid gland Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the thyroid gland. (Human Phenotype Ontology, HP_0000820)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000820
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Genes

176 genes associated with the abnormality of the thyroid gland 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALMS1 Alstrom syndrome protein 1
APC adenomatous polyposis coli
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BIRC3 baculoviral IAP repeat containing 3
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
C10ORF2 chromosome 10 open reading frame 2
C1S complement component 1, s subcomponent
CCBE1 collagen and calcium binding EGF domains 1
CCDC6 coiled-coil domain containing 6
CDC73 cell division cycle 73
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
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
DICER1 dicer 1, ribonuclease type III
DIO1 deiodinase, iodothyronine, type I
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN5 fibulin 5
FLCN folliculin
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXI1 forkhead box I1
FOXP1 forkhead box P1
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)
GDNF glial cell derived neurotrophic factor
GLI3 GLI family zinc finger 3
GLIS3 GLIS family zinc finger 3
GNAS GNAS complex locus
GOLGA5 golgin A5
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
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INSR insulin receptor
IYD iodotyrosine deiodinase
JAG1 jagged 1
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
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
L1CAM L1 cell adhesion molecule
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
MALT1 MALT1 paracaspase
MEN1 multiple endocrine neoplasia I
MINPP1 multiple inositol-polyphosphate phosphatase 1
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
NCOA4 nuclear receptor coactivator 4
ND1
NIN ninein (GSK3B interacting protein)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRTN neurturin
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAX8 paired box 8
PCM1 pericentriolar material 1
PDE4D phosphodiesterase 4D, cAMP-specific
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POU1F1 POU class 1 homeobox 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
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
RET ret proto-oncogene
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
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
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
TCOF1 Treacher Collins-Franceschetti syndrome 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
TRIM24 tripartite motif containing 24
TRIM33 tripartite motif containing 33
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
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WFS1 Wolfram syndrome 1 (wolframin)
WRN Werner syndrome, RecQ helicase-like