Hypophosphatasia 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_14213)
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Genes

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

Symbol Name Standardized Value
ALPL alkaline phosphatase, liver/bone/kidney 4.0
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 2.841
PHOSPHO1 phosphatase, orphan 1 2.779
PHEX phosphate regulating endopeptidase homolog, X-linked 2.627
ANKH ANKH inorganic pyrophosphate transport regulator 2.494
PNPO pyridoxamine 5'-phosphate oxidase 2.442
FGF23 fibroblast growth factor 23 2.439
PTH parathyroid hormone 2.404
ALPP alkaline phosphatase, placental 2.373
SOST sclerostin 2.315
BGLAP bone gamma-carboxyglutamate (gla) protein 2.226
SPP1 secreted phosphoprotein 1 2.218
DMP1 dentin matrix acidic phosphoprotein 1 2.178
PLPBP pyridoxal phosphate binding protein 2.175
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 2.167
RUNX2 runt-related transcription factor 2 2.152
COL1A2 collagen, type I, alpha 2 2.126
COL1A1 collagen, type I, alpha 1 2.102
PIGO phosphatidylinositol glycan anchor biosynthesis, class O 2.053
PIGT phosphatidylinositol glycan anchor biosynthesis, class T 2.033
IBSP integrin-binding sialoprotein 2.029
MEPE matrix extracellular phosphoglycoprotein 2.025
ALPI alkaline phosphatase, intestinal 1.993
PIGV phosphatidylinositol glycan anchor biosynthesis, class V 1.977
ALPG alkaline phosphatase, germ cell 1.965
PLS3 plastin 3 1.963
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1.953
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.938
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.933
SP7 Sp7 transcription factor 1.912
IFITM5 interferon induced transmembrane protein 5 1.895
DSPP dentin sialophosphoprotein 1.894
C7ORF33 chromosome 7 open reading frame 33 1.893
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1.857
CRTAP cartilage associated protein 1.845
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.838
PGAP2 post-GPI attachment to proteins 2 1.833
LRP5 low density lipoprotein receptor-related protein 5 1.833
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.794
SLC20A1 solute carrier family 20 (phosphate transporter), member 1 1.79
ACP5 acid phosphatase 5, tartrate resistant 1.786
GALNS galactosamine (N-acetyl)-6-sulfatase 1.753
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.727
IQCA1L IQ motif containing with AAA domain 1 like 1.717
CTSK cathepsin K 1.715
NT5E 5'-nucleotidase, ecto (CD73) 1.705
MGP matrix Gla protein 1.703
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough 1.692
FGFR3 fibroblast growth factor receptor 3 1.676
SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1.661
ZNF786 zinc finger protein 786 1.644
P3H1 prolyl 3-hydroxylase 1 1.621
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 1.621
PIGW phosphatidylinositol glycan anchor biosynthesis, class W 1.607
KL klotho 1.596
ZNF783 zinc finger family member 783 1.571
BMP2 bone morphogenetic protein 2 1.568
GGPS1 geranylgeranyl diphosphate synthase 1 1.563
TMUB1 transmembrane and ubiquitin-like domain containing 1 1.556
EMP1 epithelial membrane protein 1 1.553
PTHLH parathyroid hormone-like hormone 1.539
ZNF425 zinc finger protein 425 1.536
FAM20C family with sequence similarity 20, member C 1.529
WNT1 wingless-type MMTV integration site family, member 1 1.522
MSX2 msh homeobox 2 1.51
ENAM enamelin 1.508
CASR calcium-sensing receptor 1.5
PIGM phosphatidylinositol glycan anchor biosynthesis, class M 1.489
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 1.475
FKBP10 FK506 binding protein 10, 65 kDa 1.47
KRBA1 KRAB-A domain containing 1 1.461
PIGL phosphatidylinositol glycan anchor biosynthesis, class L 1.458
PROSER2 proline and serine rich 2 1.447
PDXK pyridoxal (pyridoxine, vitamin B6) kinase 1.436
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 1.435
BMP1 bone morphogenetic protein 1 1.433
CLCN7 chloride channel, voltage-sensitive 7 1.433
CD4 CD4 molecule 1.429
ZNF775 zinc finger protein 775 1.422
SFRP4 secreted frizzled-related protein 4 1.419
DKK1 dickkopf WNT signaling pathway inhibitor 1 1.413
WDR86 WD repeat domain 86 1.409
PIGK phosphatidylinositol glycan anchor biosynthesis, class K 1.407
GCM2 glial cells missing homolog 2 (Drosophila) 1.405
PTH1R parathyroid hormone 1 receptor 1.399
LRRC61 leucine rich repeat containing 61 1.389
LRP6 low density lipoprotein receptor-related protein 6 1.389
COL2A1 collagen, type II, alpha 1 1.388
GNAS GNAS complex locus 1.385
ZNF777 zinc finger protein 777 1.381
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.364
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.363
FGFR2 fibroblast growth factor receptor 2 1.355
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 1.35
ZNF862 zinc finger protein 862 1.349
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.344
PGAP3 post-GPI attachment to proteins 3 1.34
MRPS5 mitochondrial ribosomal protein S5 1.335
SNX10 sorting nexin 10 1.327
SOX9 SRY (sex determining region Y)-box 9 1.326
ATRAID all-trans retinoic acid-induced differentiation factor 1.318
SEC24D SEC24 family member D 1.315
MMP20 matrix metallopeptidase 20 1.314
ZNF212 zinc finger protein 212 1.312
DLX3 distal-less homeobox 3 1.309
VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) 1.301
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 1.3
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1.3
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 1.294
PAX9 paired box 9 1.283
NPPC natriuretic peptide C 1.28
ARSJ arylsulfatase family, member J 1.268
MOCS2 molybdenum cofactor synthesis 2 1.266
CRYGN crystallin, gamma N 1.264
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.263
BMP4 bone morphogenetic protein 4 1.261
FGF7 fibroblast growth factor 7 1.26
FGFR1 fibroblast growth factor receptor 1 1.252
ZSWIM2 zinc finger, SWIM-type containing 2 1.252
ALB albumin 1.251
TGFB1 transforming growth factor, beta 1 1.242
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.241
MEMO1 mediator of cell motility 1 1.235
SSUH2 ssu-2 homolog (C. elegans) 1.234
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 1.231
CLCN5 chloride channel, voltage-sensitive 5 1.23
DHTKD1 dehydrogenase E1 and transketolase domain containing 1 1.227
TENT5A terminal nucleotidyltransferase 5A 1.226
PPA2 pyrophosphatase (inorganic) 2 1.223
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.222
GBX1 gastrulation brain homeobox 1 1.217
TMEM38B transmembrane protein 38B 1.216
SHOX short stature homeobox 1.21
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.21
FGF2 fibroblast growth factor 2 (basic) 1.209
THY1 Thy-1 cell surface antigen 1.205
CTSC cathepsin C 1.198
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.197
ZNF282 zinc finger protein 282 1.193
IGF1 insulin-like growth factor 1 (somatomedin C) 1.191
SLC26A2 solute carrier family 26 (anion exchanger), member 2 1.187
CCDC134 coiled-coil domain containing 134 1.186
COL10A1 collagen, type X, alpha 1 1.176
FBN1 fibrillin 1 1.167
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 1.164
PPA1 pyrophosphatase (inorganic) 1 1.163
OTOF otoferlin 1.161
VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) 1.161
TRPV6 transient receptor potential cation channel, subfamily V, member 6 1.159
ASB10 ankyrin repeat and SOCS box containing 10 1.154
MSX1 msh homeobox 1 1.145
IHH indian hedgehog 1.139
ZAN zonadhesin (gene/pseudogene) 1.132
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 1.129
IL1B interleukin 1, beta 1.123
ZMPSTE24 zinc metallopeptidase STE24 1.121
ENG endoglin 1.121
PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase 1.112
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.111
GIMAP6 GTPase, IMAP family member 6 1.111
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 1.109
ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 1.106
IL6 interleukin 6 1.105
AMELX amelogenin, X-linked 1.103
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 1.098
ARX aristaless related homeobox 1.095
FGF8 fibroblast growth factor 8 (androgen-induced) 1.092
GDF5 growth differentiation factor 5 1.09
GIMAP2 GTPase, IMAP family member 2 1.09
ACVR1 activin A receptor, type I 1.09
FGF5 fibroblast growth factor 5 1.088
LEMD3 LEM domain containing 3 1.085
PPIB peptidylprolyl isomerase B (cyclophilin B) 1.082
AP1G2 adaptor-related protein complex 1, gamma 2 subunit 1.081
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 1.081
ARHGAP28 Rho GTPase activating protein 28 1.081
CHPF2 chondroitin polymerizing factor 2 1.077
CRP C-reactive protein, pentraxin-related 1.076
AMBN ameloblastin (enamel matrix protein) 1.076
ETNPPL ethanolamine-phosphate phospho-lyase 1.074
GUSB glucuronidase, beta 1.074
OSTM1 osteopetrosis associated transmembrane protein 1 1.073
GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 1.073
WNT16 wingless-type MMTV integration site family, member 16 1.072
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.07
WNT10A wingless-type MMTV integration site family, member 10A 1.069
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 1.069
ATP6V0E2 ATPase, H+ transporting V0 subunit e2 1.066
FGF3 fibroblast growth factor 3 1.064
ACAN aggrecan 1.062
SLC39A13 solute carrier family 39 (zinc transporter), member 13 1.056
PGAP1 post-GPI attachment to proteins 1 1.056
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 1.056
BMP6 bone morphogenetic protein 6 1.054
RRP1 ribosomal RNA processing 1 1.053
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 1.05
FGF10 fibroblast growth factor 10 1.049
GPLD1 glycosylphosphatidylinositol specific phospholipase D1 1.046
TNF tumor necrosis factor 1.046
EFNB1 ephrin-B1 1.044
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.044
SH3BP2 SH3-domain binding protein 2 1.043
COL11A1 collagen, type XI, alpha 1 1.042
ZNF467 zinc finger protein 467 1.041
WLS wntless Wnt ligand secretion mediator 1.035
GIMAP8 GTPase, IMAP family member 8 1.033
CREB3L1 cAMP responsive element binding protein 3-like 1 1.032
TWIST1 twist family bHLH transcription factor 1 1.031
CANT1 calcium activated nucleotidase 1 1.028
INS insulin 1.027
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5 1.024
PRDM12 PR domain containing 12 1.022
DNAH8 dynein, axonemal, heavy chain 8 1.02
GIMAP1 GTPase, IMAP family member 1 1.02
PIGC phosphatidylinositol glycan anchor biosynthesis, class C 1.019
FGF4 fibroblast growth factor 4 1.013
FGF18 fibroblast growth factor 18 1.007
UBP1 upstream binding protein 1 (LBP-1a) 1.006
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 1.001
COL11A2 collagen, type XI, alpha 2 1.0
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 1.0