Pseudohypoparathyroidism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_4184)
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Genes

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

Symbol Name Standardized Value
GNAS GNAS complex locus 3.814
PTH parathyroid hormone 3.612
STX16 syntaxin 16 3.559
GHRH growth hormone releasing hormone 2.82
PTHLH parathyroid hormone-like hormone 2.732
PLPPR3 phospholipid phosphatase related 3 2.714
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 2.587
PDE4D phosphodiesterase 4D, cAMP-specific 2.575
PLPPR4 phospholipid phosphatase related 4 2.451
PTH1R parathyroid hormone 1 receptor 2.448
MC4R melanocortin 4 receptor 2.284
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 2.28
PDE3A phosphodiesterase 3A, cGMP-inhibited 2.23
PLAGL1 pleiomorphic adenoma gene-like 1 2.22
MYORG myogenesis regulating glycosidase (putative) 2.193
CASR calcium-sensing receptor 2.184
SNRPN small nuclear ribonucleoprotein polypeptide N 2.152
WDR20 WD repeat domain 20 2.147
MEST mesoderm specific transcript 2.123
ZFP57 ZFP57 zinc finger protein 2.105
GRB10 growth factor receptor-bound protein 10 2.101
NLRP5 NLR family, pyrin domain containing 5 2.013
SIM1 single-minded family bHLH transcription factor 1 2.006
GCM2 glial cells missing homolog 2 (Drosophila) 1.967
POMC proopiomelanocortin 1.94
ZDBF2 zinc finger, DBF-type containing 2 1.935
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.92
TRH thyrotropin-releasing hormone 1.901
FGF23 fibroblast growth factor 23 1.891
KHDC3L KH domain containing 3-like, subcortical maternal complex member 1.889
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 1.847
PRKACG protein kinase, cAMP-dependent, catalytic, gamma 1.83
MAGEL2 melanoma antigen family L2 1.828
PRKACB protein kinase, cAMP-dependent, catalytic, beta 1.826
DLK1 delta-like 1 homolog (Drosophila) 1.815
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 1.789
IYD iodotyrosine deiodinase 1.782
IGF2 insulin-like growth factor 2 1.772
ZNF445 zinc finger protein 445 1.754
NLRP2 NLR family, pyrin domain containing 2 1.747
PCSK1 proprotein convertase subtilisin/kexin type 1 1.745
SHOX short stature homeobox 1.733
TSHR thyroid stimulating hormone receptor 1.726
NPEPL1 aminopeptidase-like 1 1.719
FOXE1 forkhead box E1 1.712
HDAC4 histone deacetylase 4 1.701
ACVR1 activin A receptor, type I 1.69
PEG3 paternally expressed 3 1.684
OOEP oocyte expressed protein 1.678
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 1.677
ALMS1 Alstrom syndrome protein 1 1.674
MKRN3 makorin ring finger protein 3 1.674
ZNF597 zinc finger protein 597 1.672
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 1.656
NLRP7 NLR family, pyrin domain containing 7 1.651
IGF1 insulin-like growth factor 1 (somatomedin C) 1.646
LEP leptin 1.644
AIRE autoimmune regulator 1.641
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 1.63
NDN necdin, melanoma antigen (MAGE) family member 1.622
NAP1L5 nucleosome assembly protein 1-like 5 1.611
DUOXA2 dual oxidase maturation factor 2 1.6
HOXD13 homeobox D13 1.599
PRL prolactin 1.592
SNU13 small nuclear ribonucleoprotein 13 1.584
BGLAP bone gamma-carboxyglutamate (gla) protein 1.581
TRPS1 trichorhinophalangeal syndrome I 1.546
BBS10 Bardet-Biedl syndrome 10 1.542
FRMD6 FERM domain containing 6 1.539
GTPBP4 GTP binding protein 4 1.525
GCG glucagon 1.509
PRMT7 protein arginine methyltransferase 7 1.502
ALB albumin 1.495
NPAP1 nuclear pore associated protein 1 1.488
PDGFB platelet-derived growth factor beta polypeptide 1.478
RUNX2 runt-related transcription factor 2 1.469
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.466
INS insulin 1.465
XPR1 xenotropic and polytropic retrovirus receptor 1 1.465
L3MBTL1 l(3)mbt-like 1 (Drosophila) 1.463
TG thyroglobulin 1.462
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1.458
UBE3A ubiquitin protein ligase E3A 1.458
FAM50B family with sequence similarity 50, member B 1.452
LEPR leptin receptor 1.45
GHRHR growth hormone releasing hormone receptor 1.447
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.447
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 1.446
ZAR1 zygote arrest 1 1.442
PHEX phosphate regulating endopeptidase homolog, X-linked 1.435
DUOX2 dual oxidase 2 1.427
RTL1 retrotransposon-like 1 1.416
SH2B1 SH2B adaptor protein 1 1.413
SP7 Sp7 transcription factor 1.407
SVOPL SVOP-like 1.404
LHX4 LIM homeobox 4 1.402
PADI6 peptidyl arginine deiminase, type VI 1.4
BBS5 Bardet-Biedl syndrome 5 1.398
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.394
IHH indian hedgehog 1.394
STK25 serine/threonine kinase 25 1.391
SLC26A4 solute carrier family 26 (anion exchanger), member 4 1.385
BBS1 Bardet-Biedl syndrome 1 1.384
PAX8 paired box 8 1.383
BBS7 Bardet-Biedl syndrome 7 1.375
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 1.364
TPO thyroid peroxidase 1.363
HDLBP high density lipoprotein binding protein 1.352
GPR35 G protein-coupled receptor 35 1.35
NKX2-1 NK2 homeobox 1 1.35
ASB18 ankyrin repeat and SOCS box containing 18 1.344
KL klotho 1.343
DIRAS3 DIRAS family, GTP-binding RAS-like 3 1.342
HESX1 HESX homeobox 1 1.296
ZNF396 zinc finger protein 396 1.291
MC3R melanocortin 3 receptor 1.285
BBS2 Bardet-Biedl syndrome 2 1.28
PHF6 PHD finger protein 6 1.268
PROP1 PROP paired-like homeobox 1 1.265
CTCF CCCTC-binding factor (zinc finger protein) 1.263
GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide 1.258
DMP1 dentin matrix acidic phosphoprotein 1 1.257
UROD uroporphyrinogen decarboxylase 1.256
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.253
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 1.244
BBS12 Bardet-Biedl syndrome 12 1.243
FMR1 fragile X mental retardation 1 1.239
ATP10A ATPase, class V, type 10A 1.235
IGF2R insulin-like growth factor 2 receptor 1.23
PTH2R parathyroid hormone 2 receptor 1.223
TLE6 transducin-like enhancer of split 6 1.222
TGM1 transglutaminase 1 1.22
FGD1 FYVE, RhoGEF and PH domain containing 1 1.216
CHML choroideremia-like (Rab escort protein 2) 1.216
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.213
PDS5B PDS5 cohesin associated factor B 1.212
MRAP2 melanocortin 2 receptor accessory protein 2 1.211
GH1 growth hormone 1 1.205
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.205
BBS4 Bardet-Biedl syndrome 4 1.204
GCSAML germinal center-associated, signaling and motility-like 1.2
NNAT neuronatin 1.197
AGRP agouti related neuropeptide 1.194
IQCA1 IQ motif containing with AAA domain 1 1.19
GAREM1 GRB2 associated regulator of MAPK1 subtype 1 1.189
MEN1 multiple endocrine neoplasia I 1.187
ALPL alkaline phosphatase, liver/bone/kidney 1.183
NKX2-5 NK2 homeobox 5 1.178
ESX1 ESX homeobox 1 1.172
FTO fat mass and obesity associated 1.166
FGFR3 fibroblast growth factor receptor 3 1.165
BMP4 bone morphogenetic protein 4 1.163
SOST sclerostin 1.158
POU1F1 POU class 1 homeobox 1 1.147
GNA12 guanine nucleotide binding protein (G protein) alpha 12 1.146
TWIST2 twist family bHLH transcription factor 2 1.14
RTN1 reticulon 1 1.134
MAP2K5-DT MAP2K5 divergent transcript 1.13
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.127
REN renin 1.124
TMEM18 transmembrane protein 18 1.122
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta 1.12
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 1.117
GHRL ghrelin/obestatin prepropeptide 1.116
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 1.115
NAA11 N(alpha)-acetyltransferase 11, NatA catalytic subunit 1.111
TSHB thyroid stimulating hormone, beta 1.103
CREB1 cAMP responsive element binding protein 1 1.1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 1.1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 1.099
EMP1 epithelial membrane protein 1 1.091
SNURF SNRPN upstream reading frame 1.086
ZNF331 zinc finger protein 331 1.083
TUB tubby bipartite transcription factor 1.074
LHCGR luteinizing hormone/choriogonadotropin receptor 1.073
PARD6G par-6 family cell polarity regulator gamma 1.072
VPS13B vacuolar protein sorting 13 homolog B (yeast) 1.071
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.07
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like 1.062
FSHR follicle stimulating hormone receptor 1.056
SIM2 single-minded family bHLH transcription factor 2 1.05
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 1.049
PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta 1.046
ZNF202 zinc finger protein 202 1.031
SOX9 SRY (sex determining region Y)-box 9 1.031
TUBB1 tubulin, beta 1 class VI 1.028
GET1 guided entry of tail-anchored proteins factor 1 1.023
CSH2 chorionic somatomammotropin hormone 2 1.011
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.01
OGA O-GlcNAcase 1.01
BDNF brain-derived neurotrophic factor 1.007
PLAG1 pleiomorphic adenoma gene 1 1.003
SECISBP2 SECIS binding protein 2 1.002
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 1.001
FPGT-TNNI3K FPGT-TNNI3K readthrough 1.0
PRDM11 PR domain containing 11 1.0