Hyperparathyroidism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (Human Disease Ontology, DOID_13543)
External Link https://www.disgenet.org/browser/0/1/0/C0020502
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACE angiotensin I converting enzyme
ACP5 acid phosphatase 5, tartrate resistant
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAM17 ADAM metallopeptidase domain 17
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ADGRG2 adhesion G protein-coupled receptor G2
ADM adrenomedullin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIP aryl hydrocarbon receptor interacting protein
ALB albumin
ALPL alkaline phosphatase, liver/bone/kidney
ALPP alkaline phosphatase, placental
AMELX amelogenin, X-linked
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
APRT adenine phosphoribosyltransferase
ARR3 arrestin 3, retinal (X-arrestin)
ASRGL1 asparaginase like 1
ATRAID all-trans retinoic acid-induced differentiation factor
ATRNL1 attractin-like 1
BCAR1 breast cancer anti-estrogen resistance 1
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BMPR1A bone morphogenetic protein receptor, type IA
BRCA2 breast cancer 2, early onset
CA2 carbonic anhydrase II
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CALCA calcitonin-related polypeptide alpha
CASR calcium-sensing receptor
CCL2 chemokine (C-C motif) ligand 2
CCL27 chemokine (C-C motif) ligand 27
CCND1 cyclin D1
CD38 CD38 molecule
CDC73 cell division cycle 73
CDH17 cadherin 17, LI cadherin (liver-intestine)
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)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFL1 cofilin 1 (non-muscle)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHGA chromogranin A
CORO7 coronin 7
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CRP C-reactive protein, pentraxin-related
CSE1L CSE1 chromosome segregation 1-like (yeast)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CXADR coxsackie virus and adenovirus receptor
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DBP D site of albumin promoter (albumin D-box) binding protein
DCTN6 dynactin 6
DERL2 derlin 2
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DMPK dystrophia myotonica-protein kinase
EEF1E1 eukaryotic translation elongation factor 1 epsilon 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EMP1 epithelial membrane protein 1
EPHB2 EPH receptor B2
EPO erythropoietin
ESR1 estrogen receptor 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FECH ferrochelatase
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FOXI1 forkhead box I1
FUZ fuzzy planar cell polarity protein
FZD1 frizzled class receptor 1
FZD4 frizzled class receptor 4
FZD5 frizzled class receptor 5
G6PD glucose-6-phosphate dehydrogenase
GAST gastrin
GC group-specific component (vitamin D binding protein)
GCG glucagon
GCM2 glial cells missing homolog 2 (Drosophila)
GLI2 GLI family zinc finger 2
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GNAS GNAS complex locus
GPR151 G protein-coupled receptor 151
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRN granulin
HAVCR1 hepatitis A virus cellular receptor 1
HIC1 hypermethylated in cancer 1
HNF1B HNF1 homeobox B
HPGDS hematopoietic prostaglandin D synthase
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
IFI27 interferon, alpha-inducible protein 27
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP3 insulin-like growth factor binding protein 3
IL11 interleukin 11
IL17A interleukin 17A
IL6 interleukin 6
IL6R interleukin 6 receptor
JAK2 Janus kinase 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KL klotho
LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
LEP leptin
LEPR leptin receptor
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAFK v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K
MAPK1 mitogen-activated protein kinase 1
MDM4 MDM4, p53 regulator
MEN1 multiple endocrine neoplasia I
MFAP1 microfibrillar-associated protein 1
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIP major intrinsic protein of lens fiber
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MSH3 mutS homolog 3
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAT10 N-acetyltransferase 10 (GCN5-related)
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1I3 nuclear receptor subfamily 1, group I, member 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
OCRL oculocerebrorenal syndrome of Lowe
OSCP1 organic solute carrier partner 1
OXER1 oxoeicosanoid (OXE) receptor 1
PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)
PCLAF PCNA clamp associated factor
PCNA proliferating cell nuclear antigen
PDLIM3 PDZ and LIM domain 3
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PPY pancreatic polypeptide
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRLR prolactin receptor
PRRT2 proline-rich transmembrane protein 2
PRSS2 protease, serine, 2 (trypsin 2)
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTMS parathymosin
PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RASA1 RAS p21 protein activator (GTPase activating protein) 1
REN renin
RET ret proto-oncogene
RGS5 regulator of G-protein signaling 5
SDHAF2 succinate dehydrogenase complex assembly factor 2
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
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
SEPHS1 selenophosphate synthetase 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SLPI secretory leukocyte peptidase inhibitor
SMAD4 SMAD family member 4
SMS spermine synthase
SOST sclerostin
SPAG11A sperm associated antigen 11A
SPAG11B sperm associated antigen 11B
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
SRY sex determining region Y
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SST somatostatin
TAT tyrosine aminotransferase
TBX4 T-box 4
TCF21 transcription factor 21
TGFA transforming growth factor, alpha
TICAM2 toll-like receptor adaptor molecule 2
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TPPP2 tubulin polymerization-promoting protein family member 2
TRIM13 tripartite motif containing 13
TRPV6 transient receptor potential cation channel, subfamily V, member 6
UBE2I ubiquitin-conjugating enzyme E2I
UMOD uromodulin
USP6 ubiquitin specific peptidase 6
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT10B wingless-type MMTV integration site family, member 10B
WT1 Wilms tumor 1
ZNF197 zinc finger protein 197
ZNF410 zinc finger protein 410