abnormality of the parathyroid gland Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the parathyroid gland. (Human Phenotype Ontology, HP_0000828)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000828
Similar Terms
Downloads & Tools

Genes

60 genes associated with the abnormality of the parathyroid gland phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AIRE autoimmune regulator
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide
CASR calcium-sensing receptor
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)
CHD7 chromodomain helicase DNA binding protein 7
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
FAM111A family with sequence similarity 111, member A
FLCN folliculin
FOXI1 forkhead box I1
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
HBB hemoglobin, beta
HIRA histone cell cycle regulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IRX5 iroquois homeobox 5
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
LIG4 ligase IV, DNA, ATP-dependent
MEN1 multiple endocrine neoplasia I
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
NF1 neurofibromin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RET ret proto-oncogene
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC26A4 solute carrier family 26 (anion exchanger), member 4
STX16 syntaxin 16
TBCE tubulin folding cofactor E
TBX1 T-box 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor