goiter Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. (Human Disease Ontology, DOID_12176)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000853
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Genes

42 genes associated with the goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALMS1 Alstrom syndrome protein 1
COX1
COX2
COX3
DICER1 dicer 1, ribonuclease type III
DIO1 deiodinase, iodothyronine, type I
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FOXI1 forkhead box I1
GNAS GNAS complex locus
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IYD iodotyrosine deiodinase
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KLLN killin, p53-regulated DNA replication inhibitor
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
NKX2-1 NK2 homeobox 1
PAX8 paired box 8
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
RET ret proto-oncogene
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
TG thyroglobulin
THRB thyroid hormone receptor, beta
TPO thyroid peroxidase
TSHR thyroid stimulating hormone receptor