Hypoparathyroidism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (Human Disease Ontology, DOID_11199)
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Genes

338 genes co-occuring with the disease Hypoparathyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
PTH parathyroid hormone 4.0
AIRE autoimmune regulator 3.495
CASR calcium-sensing receptor 3.473
GCM2 glial cells missing homolog 2 (Drosophila) 3.233
TG thyroglobulin 2.988
NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 2.797
FAM111A family with sequence similarity 111, member A 2.782
NLRP5 NLR family, pyrin domain containing 5 2.751
GATA3 GATA binding protein 3 2.732
TBCE tubulin folding cofactor E 2.623
FGF23 fibroblast growth factor 23 2.623
NT5C1B-RDH14 NT5C1B-RDH14 readthrough 2.603
NT5C1B 5'-nucleotidase, cytosolic IB 2.599
TBX1 T-box 1 2.539
MEN1 multiple endocrine neoplasia I 2.518
PTHLH parathyroid hormone-like hormone 2.516
PTH1R parathyroid hormone 1 receptor 2.5
ALB albumin 2.495
BGLAP bone gamma-carboxyglutamate (gla) protein 2.407
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 2.396
TPO thyroid peroxidase 2.367
IFNW1 interferon, omega 1 2.336
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 2.306
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide 2.299
POMC proopiomelanocortin 2.266
RET ret proto-oncogene 2.253
TRPM6 transient receptor potential cation channel, subfamily M, member 6 2.248
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 2.19
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 2.158
INS insulin 2.136
GNAS GNAS complex locus 2.116
DGCR2 DiGeorge syndrome critical region gene 2 2.109
SOST sclerostin 2.084
CDC73 cell division cycle 73 2.069
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 2.063
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.998
CLDN16 claudin 16 1.992
KL klotho 1.986
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.98
KCNRG potassium channel regulator 1.97
ZNF2 zinc finger protein 2 1.967
MYORG myogenesis regulating glycosidase (putative) 1.962
IGF1 insulin-like growth factor 1 (somatomedin C) 1.95
IL17F interleukin 17F 1.946
IL22 interleukin 22 1.945
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.94
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.939
TSHR thyroid stimulating hormone receptor 1.929
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.915
GC group-specific component (vitamin D binding protein) 1.909
PHEX phosphate regulating endopeptidase homolog, X-linked 1.905
SOX3 SRY (sex determining region Y)-box 3 1.9
PRL prolactin 1.898
STX16 syntaxin 16 1.869
C6ORF15 chromosome 6 open reading frame 15 1.869
CTLA4 cytotoxic T-lymphocyte-associated protein 4 1.863
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.857
EGLN2 egl-9 family hypoxia-inducible factor 2 1.856
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 1.853
BRAF B-Raf proto-oncogene, serine/threonine kinase 1.847
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.829
CHD7 chromodomain helicase DNA binding protein 7 1.818
TNFRSF25 tumor necrosis factor receptor superfamily, member 25 1.818
CD4 CD4 molecule 1.806
EMP1 epithelial membrane protein 1 1.793
TGM4 transglutaminase 4 1.78
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.767
REN renin 1.767
PAX1 paired box 1 1.758
BPIFB1 BPI fold containing family B, member 1 1.755
ACP5 acid phosphatase 5, tartrate resistant 1.749
HIRA histone cell cycle regulator 1.747
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 1.74
IL17A interleukin 17A 1.727
ATP11C ATPase, class VI, type 11C 1.721
FOXN1 forkhead box N1 1.708
EYA1 EYA transcriptional coactivator and phosphatase 1 1.696
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 1.694
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like 1.689
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 1.689
CKM creatine kinase, muscle 1.683
CKMT1B creatine kinase, mitochondrial 1B 1.675
CD8A CD8a molecule 1.673
CKB creatine kinase, brain 1.672
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.672
PLPPR4 phospholipid phosphatase related 4 1.655
PTH2R parathyroid hormone 2 receptor 1.648
PDILT protein disulfide isomerase-like, testis expressed 1.644
IL6 interleukin 6 1.627
AVP arginine vasopressin 1.623
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 1.62
PLPPR3 phospholipid phosphatase related 3 1.617
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.615
BSND barttin CLCNK-type chloride channel accessory beta subunit 1.614
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.612
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 1.612
IFNA1 interferon, alpha 1 1.609
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 1.608
TBCB tubulin folding cofactor B 1.601
GHRH growth hormone releasing hormone 1.594
FOXP3 forkhead box P3 1.586
XPR1 xenotropic and polytropic retrovirus receptor 1 1.583
CRP C-reactive protein, pentraxin-related 1.581
SP100 SP100 nuclear antigen 1.58
DEAF1 DEAF1 transcription factor 1.58
PTPRN protein tyrosine phosphatase, receptor type, N 1.566
ALPL alkaline phosphatase, liver/bone/kidney 1.565
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 1.564
CLDN19 claudin 19 1.561
TOR1A torsin family 1, member A (torsin A) 1.561
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.556
GP1BB glycoprotein Ib (platelet), beta polypeptide 1.552
CLDN14 claudin 14 1.551
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 1.546
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 1.54
IL1B interleukin 1, beta 1.523
MAGEB2 melanoma antigen family B2 1.518
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.516
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 1.513
DMP1 dentin matrix acidic phosphoprotein 1 1.509
PAX8 paired box 8 1.503
TGM2 transglutaminase 2 1.501
PDGFB platelet-derived growth factor beta polypeptide 1.497
EPO erythropoietin 1.495
TNF tumor necrosis factor 1.492
DOCK8 dedicator of cytokinesis 8 1.489
PAX9 paired box 9 1.479
ACE angiotensin I converting enzyme 1.476
CARD9 caspase recruitment domain family, member 9 1.475
UFD1 ubiquitin recognition factor in ER associated degradation 1 1.46
GCG glucagon 1.459
SLC30A10 solute carrier family 30, member 10 1.452
NT5C1A 5'-nucleotidase, cytosolic IA 1.451
DNAH8 dynein, axonemal, heavy chain 8 1.447
FGF10 fibroblast growth factor 10 1.444
FGF8 fibroblast growth factor 8 (androgen-induced) 1.442
PTH2 parathyroid hormone 2 1.438
TRPV6 transient receptor potential cation channel, subfamily V, member 6 1.433
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 1.432
STAT1 signal transducer and activator of transcription 1, 91kDa 1.425
MEPE matrix extracellular phosphoglycoprotein 1.423
POLG polymerase (DNA directed), gamma 1.422
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.418
FOXI3 forkhead box I3 1.416
GAST gastrin 1.415
FGF7 fibroblast growth factor 7 1.408
PAX2 paired box 2 1.404
CD274 CD274 molecule 1.403
TXNDC17 thioredoxin domain containing 17 1.402
COL1A2 collagen, type I, alpha 2 1.396
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.395
SNTG2 syntrophin, gamma 2 1.392
ZFPM2 zinc finger protein, FOG family member 2 1.388
IFNA2 interferon, alpha 2 1.386
FGF17 fibroblast growth factor 17 1.383
CHGA chromogranin A 1.38
CLCNKB chloride channel, voltage-sensitive Kb 1.372
FXYD2 FXYD domain containing ion transport regulator 2 1.371
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 1.37
RUNX2 runt-related transcription factor 2 1.366
TERT telomerase reverse transcriptase 1.365
IFNG interferon, gamma 1.363
TRH thyrotropin-releasing hormone 1.359
PDCD1 programmed cell death 1 1.358
ESR1 estrogen receptor 1 1.355
SLC30A8 solute carrier family 30 (zinc transporter), member 8 1.353
SNAP29 synaptosomal-associated protein, 29kDa 1.351
HBE1 hemoglobin, epsilon 1 1.351
SLC20A1 solute carrier family 20 (phosphate transporter), member 1 1.348
SPP1 secreted phosphoprotein 1 1.345
CP ceruloplasmin (ferroxidase) 1.344
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 1.34
FGF3 fibroblast growth factor 3 1.335
HOXA3 homeobox A3 1.333
FGF18 fibroblast growth factor 18 1.332
FGF16 fibroblast growth factor 16 1.332
FGF20 fibroblast growth factor 20 1.33
FGF22 fibroblast growth factor 22 1.326
FGF5 fibroblast growth factor 5 1.324
FGF6 fibroblast growth factor 6 1.324
IL12RB1 interleukin 12 receptor, beta 1 1.323
TDRD6 tudor domain containing 6 1.321
FEZF2 FEZ family zinc finger 2 1.32
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.319
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.313
PDPN podoplanin 1.31
FGF4 fibroblast growth factor 4 1.309
COMT catechol-O-methyltransferase 1.307
FGF9 fibroblast growth factor 9 1.306
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 1.306
IL2 interleukin 2 1.304
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 1.3
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.299
MGP matrix Gla protein 1.298
CLCN5 chloride channel, voltage-sensitive 5 1.296
CSH2 chorionic somatomammotropin hormone 2 1.295
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 1.291
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.291
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 1.286
GCM1 glial cells missing homolog 1 (Drosophila) 1.286
GATA2 GATA binding protein 2 1.285
ZNF74 zinc finger protein 74 1.284
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1.279
FAM111B family with sequence similarity 111, member B 1.278
LRP5 low density lipoprotein receptor-related protein 5 1.277
IL10 interleukin 10 1.273
CLEC7A C-type lectin domain family 7, member A 1.272
TAAR1 trace amine associated receptor 1 1.269
SST somatostatin 1.266
TBCD tubulin folding cofactor D 1.265
DKK1 dickkopf WNT signaling pathway inhibitor 1 1.264
CA2 carbonic anhydrase II 1.264
IL1A interleukin 1, alpha 1.263
BMP4 bone morphogenetic protein 4 1.262
PRODH proline dehydrogenase (oxidase) 1 1.259
GPRC6A G protein-coupled receptor, class C, group 6, member A 1.259
DGCR6L DiGeorge syndrome critical region gene 6-like 1.257
TBCA tubulin folding cofactor A 1.254
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3 1.248
NOMO3 NODAL modulator 3 1.247
NOMO2 NODAL modulator 2 1.246
FGFR1 fibroblast growth factor receptor 1 1.245
TGFB1 transforming growth factor, beta 1 1.245
ARRB2 arrestin, beta 2 1.236
NOMO1 NODAL modulator 1 1.236
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.232
NKX2-1 NK2 homeobox 1 1.231
DGCR6 DiGeorge syndrome critical region gene 6 1.23
AMH anti-Mullerian hormone 1.227
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 1.223
TRPM7 transient receptor potential cation channel, subfamily M, member 7 1.221
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 1.22
SIX1 SIX homeobox 1 1.219
LEP leptin 1.218
F2 coagulation factor II (thrombin) 1.215
IFNA8 interferon, alpha 8 1.212
ARRB1 arrestin, beta 1 1.212
GATA1 GATA binding protein 1 (globin transcription factor 1) 1.211
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 1.21
IFNA4 interferon, alpha 4 1.207
IFNA17 interferon, alpha 17 1.205
PXDN peroxidasin 1.204
PXDNL peroxidasin-like 1.2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1.2
SOX10 SRY (sex determining region Y)-box 10 1.193
CTSK cathepsin K 1.193
IFNA14 interferon, alpha 14 1.19
IFNA5 interferon, alpha 5 1.188
SP7 Sp7 transcription factor 1.182
TH tyrosine hydroxylase 1.181
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.18
IFNA21 interferon, alpha 21 1.178
IL17RA interleukin 17 receptor A 1.178
IFNA6 interferon, alpha 6 1.178
IFNA16 interferon, alpha 16 1.168
SFRP4 secreted frizzled-related protein 4 1.166
IL17RC interleukin 17 receptor C 1.166
CD80 CD80 molecule 1.165
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.165
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing 1.163
IL36RN interleukin 36 receptor antagonist 1.161
ZNF274 zinc finger protein 274 1.16
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 1.156
IFNA10 interferon, alpha 10 1.155
IFNA7 interferon, alpha 7 1.155
EGLN1 egl-9 family hypoxia-inducible factor 1 1.154
SCT secretin 1.152
IFNA13 interferon, alpha 13 1.152
SAMD9 sterile alpha motif domain containing 9 1.149
DGCR8 DGCR8 microprocessor complex subunit 1.146
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 1.138
MC2R melanocortin 2 receptor (adrenocorticotropic hormone) 1.126
HAMP hepcidin antimicrobial peptide 1.124
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 1.124
GH2 growth hormone 2 1.122
ZMYND11 zinc finger, MYND-type containing 11 1.122
TBX2 T-box 2 1.121
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 1.113
LZTR1 leucine-zipper-like transcription regulator 1 1.111
NEBL nebulette 1.111
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 1.11
TBCC tubulin folding cofactor C 1.109
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 1.107
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 1.107
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 1.103
SHH sonic hedgehog 1.098
GH1 growth hormone 1 1.094
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.093
GATA5 GATA binding protein 5 1.092
ATP5PO ATP synthase peripheral stalk subunit OSCP 1.09
WAS Wiskott-Aldrich syndrome 1.088
GATA6 GATA binding protein 6 1.087
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.086
ELN elastin 1.085
ALPG alkaline phosphatase, germ cell 1.081
CASP10 caspase 10, apoptosis-related cysteine peptidase 1.08
MYO7A myosin VIIA 1.08
CELF2 CUGBP, Elav-like family member 2 1.064
RAG1 recombination activating gene 1 1.064
OR5T3 olfactory receptor, family 5, subfamily T, member 3 1.064
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1.064
CD28 CD28 molecule 1.063
DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) 1.062
TXNRD2 thioredoxin reductase 2 1.059
BMP2 bone morphogenetic protein 2 1.059
IL7R interleukin 7 receptor 1.054
IL4 interleukin 4 1.053
HLA-A major histocompatibility complex, class I, A 1.048
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1.045
PRKACG protein kinase, cAMP-dependent, catalytic, gamma 1.044
FDPS farnesyl diphosphate synthase 1.044
RAG2 recombination activating gene 2 1.042
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 1.042
TPH1 tryptophan hydroxylase 1 1.042
SLC41A1 solute carrier family 41 (magnesium transporter), member 1 1.039
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 1.038
IL2RA interleukin 2 receptor, alpha 1.037
SELL selectin L 1.037
PRKACB protein kinase, cAMP-dependent, catalytic, beta 1.035
USP18 ubiquitin specific peptidase 18 1.033
ACE2 angiotensin I converting enzyme 2 1.033
SALL1 spalt-like transcription factor 1 1.032
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.031
KHDC3L KH domain containing 3-like, subcortical maternal complex member 1.027
PDE4D phosphodiesterase 4D, cAMP-specific 1.023
CTNS cystinosin, lysosomal cystine transporter 1.023
GATA4 GATA binding protein 4 1.023
VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 1.022
ALPI alkaline phosphatase, intestinal 1.015
IFIH1 interferon induced with helicase C domain 1 1.015
CSF3 colony stimulating factor 3 (granulocyte) 1.014
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.011
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.011
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.01
KMT2D lysine (K)-specific methyltransferase 2D 1.008
CD40LG CD40 ligand 1.004
PNKD paroxysmal nonkinesigenic dyskinesia 1.002
MRAP melanocortin 2 receptor accessory protein 1.0