Osteomalacia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (Human Disease Ontology, DOID_10573)
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Genes

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

Symbol Name Standardized Value
FGF23 fibroblast growth factor 23 4.0
PTH parathyroid hormone 3.744
PHEX phosphate regulating endopeptidase homolog, X-linked 3.649
MEPE matrix extracellular phosphoglycoprotein 3.214
DMP1 dentin matrix acidic phosphoprotein 1 3.175
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 3.173
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 3.117
ALPL alkaline phosphatase, liver/bone/kidney 3.111
KL klotho 3.013
BGLAP bone gamma-carboxyglutamate (gla) protein 2.973
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 2.957
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 2.944
EMP1 epithelial membrane protein 1 2.938
GC group-specific component (vitamin D binding protein) 2.908
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 2.887
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 2.801
SOST sclerostin 2.721
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 2.692
PHOSPHO1 phosphatase, orphan 1 2.635
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 2.617
FAM20C family with sequence similarity 20, member C 2.549
FGF7 fibroblast growth factor 7 2.505
SPP1 secreted phosphoprotein 1 2.488
FGFR1 fibroblast growth factor receptor 1 2.476
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 2.466
SFRP4 secreted frizzled-related protein 4 2.454
CASR calcium-sensing receptor 2.427
ACP5 acid phosphatase 5, tartrate resistant 2.409
IBSP integrin-binding sialoprotein 2.371
FGF6 fibroblast growth factor 6 2.367
FGF16 fibroblast growth factor 16 2.364
FGF3 fibroblast growth factor 3 2.363
FGF22 fibroblast growth factor 22 2.363
FGF20 fibroblast growth factor 20 2.362
FGF18 fibroblast growth factor 18 2.36
FGF5 fibroblast growth factor 5 2.36
ALB albumin 2.357
FGF8 fibroblast growth factor 8 (androgen-induced) 2.357
FGF17 fibroblast growth factor 17 2.356
FGF9 fibroblast growth factor 9 2.356
FGF4 fibroblast growth factor 4 2.353
FGF10 fibroblast growth factor 10 2.346
RUNX2 runt-related transcription factor 2 2.295
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 2.238
TRPV5 transient receptor potential cation channel, subfamily V, member 5 2.235
S100G S100 calcium binding protein G 2.211
TRPV6 transient receptor potential cation channel, subfamily V, member 6 2.211
CLCN5 chloride channel, voltage-sensitive 5 2.21
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 2.193
SP7 Sp7 transcription factor 2.156
IGF1 insulin-like growth factor 1 (somatomedin C) 2.104
LRP2 low density lipoprotein receptor-related protein 2 2.101
PTHLH parathyroid hormone-like hormone 2.094
SLC20A1 solute carrier family 20 (phosphate transporter), member 1 2.082
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 2.06
COL1A2 collagen, type I, alpha 2 2.059
CTSK cathepsin K 2.02
DKK1 dickkopf WNT signaling pathway inhibitor 1 1.986
ALPP alkaline phosphatase, placental 1.977
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.967
LRP5 low density lipoprotein receptor-related protein 5 1.966
COL1A1 collagen, type I, alpha 1 1.965
MGP matrix Gla protein 1.963
GNAS GNAS complex locus 1.959
BMP2 bone morphogenetic protein 2 1.957
REN renin 1.953
INS insulin 1.941
FRZB frizzled-related protein 1.938
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 1.931
FGFR4 fibroblast growth factor receptor 4 1.924
FGF1 fibroblast growth factor 1 (acidic) 1.924
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1.906
CHSY3 chondroitin sulfate synthase 3 1.904
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.899
ANKH ANKH inorganic pyrophosphate transport regulator 1.89
PTH1R parathyroid hormone 1 receptor 1.887
ALPI alkaline phosphatase, intestinal 1.878
DHCR7 7-dehydrocholesterol reductase 1.87
ALPG alkaline phosphatase, germ cell 1.869
ARSJ arylsulfatase family, member J 1.867
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.856
OCRL oculocerebrorenal syndrome of Lowe 1.849
B2M beta-2-microglobulin 1.843
FGFR3 fibroblast growth factor receptor 3 1.841
IL6 interleukin 6 1.836
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 1.816
DSPP dentin sialophosphoprotein 1.815
ESR1 estrogen receptor 1 1.811
FGF19 fibroblast growth factor 19 1.805
MT1E metallothionein 1E 1.802
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.778
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.778
SST somatostatin 1.778
EPO erythropoietin 1.777
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1.771
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.769
FURIN furin (paired basic amino acid cleaving enzyme) 1.766
TNF tumor necrosis factor 1.759
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 1.758
FGF13 fibroblast growth factor 13 1.743
NADSYN1 NAD synthetase 1 1.732
CALB1 calbindin 1, 28kDa 1.732
DNAH8 dynein, axonemal, heavy chain 8 1.726
CRP C-reactive protein, pentraxin-related 1.697
IL1B interleukin 1, beta 1.693
FN1 fibronectin 1 1.689
TGFB1 transforming growth factor, beta 1 1.682
CLCN7 chloride channel, voltage-sensitive 7 1.664
LEP leptin 1.646
SLC22A6 solute carrier family 22 (organic anion transporter), member 6 1.632
GCM2 glial cells missing homolog 2 (Drosophila) 1.63
FGF2 fibroblast growth factor 2 (basic) 1.629
SATB2 SATB homeobox 2 1.62
BMP1 bone morphogenetic protein 1 1.608
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.58
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.573
SDF4 stromal cell derived factor 4 1.57
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.565
CRTAP cartilage associated protein 1.548
IL1A interleukin 1, alpha 1.547
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 1.538
CAMP cathelicidin antimicrobial peptide 1.535
AHSG alpha-2-HS-glycoprotein 1.532
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 1.531
FGF21 fibroblast growth factor 21 1.511
KLB klotho beta 1.503
FDPS farnesyl diphosphate synthase 1.502
AP2S1 adaptor-related protein complex 2, sigma 1 subunit 1.5
TGM2 transglutaminase 2 1.497
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.496
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 1.495
SSTR2 somatostatin receptor 2 1.495
LRP6 low density lipoprotein receptor-related protein 6 1.494
MSTN myostatin 1.468
FAM20B family with sequence similarity 20, member B 1.466
FGFR2 fibroblast growth factor receptor 2 1.465
HAMP hepcidin antimicrobial peptide 1.461
PLS3 plastin 3 1.458
PPIG peptidylprolyl isomerase G (cyclophilin G) 1.448
IFITM5 interferon induced transmembrane protein 5 1.443
IFNG interferon, gamma 1.439
CA2 carbonic anhydrase II 1.435
XPR1 xenotropic and polytropic retrovirus receptor 1 1.425
NF1 neurofibromin 1 1.417
FAM20A family with sequence similarity 20, member A 1.415
IL10 interleukin 10 1.411
P3H1 prolyl 3-hydroxylase 1 1.394
PRL prolactin 1.389
WNT1 wingless-type MMTV integration site family, member 1 1.385
FOXI1 forkhead box I1 1.375
MSX2 msh homeobox 2 1.364
ADIPOQ adiponectin, C1Q and collagen domain containing 1.363
SOX9 SRY (sex determining region Y)-box 9 1.362
IHH indian hedgehog 1.357
IL17A interleukin 17A 1.355
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.35
CD34 CD34 molecule 1.347
WNT10B wingless-type MMTV integration site family, member 10B 1.338
MAPK3 mitogen-activated protein kinase 3 1.334
MMP13 matrix metallopeptidase 13 1.331
BMP4 bone morphogenetic protein 4 1.329
BMP7 bone morphogenetic protein 7 1.326
CD4 CD4 molecule 1.323
ACAN aggrecan 1.321
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 1.317
OSTM1 osteopetrosis associated transmembrane protein 1 1.316
FRS2 fibroblast growth factor receptor substrate 2 1.315
AMBP alpha-1-microglobulin/bikunin precursor 1.308
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.307
OSGEP O-sialoglycoprotein endopeptidase 1.305
POMC proopiomelanocortin 1.299
GPRC6A G protein-coupled receptor, class C, group 6, member A 1.295
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1.293
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.283
SSTR1 somatostatin receptor 1 1.282
BGN biglycan 1.281
CP ceruloplasmin (ferroxidase) 1.278
CST3 cystatin C 1.276
ACE angiotensin I converting enzyme 1.274
WDR72 WD repeat domain 72 1.273
PTH2R parathyroid hormone 2 receptor 1.273
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.271
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.27
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.269
APOM apolipoprotein M 1.26
CLDN12 claudin 12 1.258
CSF1 colony stimulating factor 1 (macrophage) 1.256
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.248
FOS FBJ murine osteosarcoma viral oncogene homolog 1.245
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 1.243
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 1.243
GGCX gamma-glutamyl carboxylase 1.242
WNT3A wingless-type MMTV integration site family, member 3A 1.24
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 1.239
ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 1.238
PDIA3 protein disulfide isomerase family A, member 3 1.236
COL10A1 collagen, type X, alpha 1 1.234
IL4 interleukin 4 1.232
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 1.229
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 1.222
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.22
PRKACG protein kinase, cAMP-dependent, catalytic, gamma 1.218
PPARG peroxisome proliferator-activated receptor gamma 1.216
CKB creatine kinase, brain 1.216
CKM creatine kinase, muscle 1.215
CKMT1B creatine kinase, mitochondrial 1B 1.211
MMP9 matrix metallopeptidase 9 1.21
PRKACB protein kinase, cAMP-dependent, catalytic, beta 1.209
IL2 interleukin 2 1.208
TOR1A torsin family 1, member A (torsin A) 1.208
EGR1 early growth response 1 1.199
STATH statherin 1.196
DKK2 dickkopf WNT signaling pathway inhibitor 2 1.196
ACTB actin, beta 1.194
CLDN16 claudin 16 1.19
PCSK2 proprotein convertase subtilisin/kexin type 2 1.189
SNX10 sorting nexin 10 1.186
PXDNL peroxidasin-like 1.182
PXDN peroxidasin 1.18
WNT16 wingless-type MMTV integration site family, member 16 1.179
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 1.174
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.173
CLDN2 claudin 2 1.17
ZBTB40 zinc finger and BTB domain containing 40 1.166
COL2A1 collagen, type II, alpha 1 1.159
SLC26A7 solute carrier family 26 (anion exchanger), member 7 1.149
OGA O-GlcNAcase 1.149
NPPA natriuretic peptide A 1.145
AMBN ameloblastin (enamel matrix protein) 1.137
DKK4 dickkopf WNT signaling pathway inhibitor 4 1.136
AMDHD1 amidohydrolase domain containing 1 1.134
FGF11 fibroblast growth factor 11 1.134
DEFB4B defensin, beta 4B 1.129
NR1H4 nuclear receptor subfamily 1, group H, member 4 1.129
CTNS cystinosin, lysosomal cystine transporter 1.127
HRAS Harvey rat sarcoma viral oncogene homolog 1.123
CXCL8 chemokine (C-X-C motif) ligand 8 1.122
SHBG sex hormone-binding globulin 1.121
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.121
OSCAR osteoclast associated, immunoglobulin-like receptor 1.119
NT5E 5'-nucleotidase, ecto (CD73) 1.118
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.117
NR4A2 nuclear receptor subfamily 4, group A, member 2 1.116
FNDC5 fibronectin type III domain containing 5 1.113
ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 1.112
FKBP10 FK506 binding protein 10, 65 kDa 1.111
AVP arginine vasopressin 1.111
JUN jun proto-oncogene 1.11
ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 1.11
FGFRL1 fibroblast growth factor receptor-like 1 1.105
TLL1 tolloid-like 1 1.104
DCN decorin 1.103
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.102
PDPN podoplanin 1.1
ENAM enamelin 1.097
CSH2 chorionic somatomammotropin hormone 2 1.097
IL11 interleukin 11 1.095
CTSB cathepsin B 1.094
ECE1 endothelin converting enzyme 1 1.091
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.089
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 1.087
ECEL1 endothelin converting enzyme-like 1 1.086
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 1.084
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 1.081
STX16 syntaxin 16 1.081
MEN1 multiple endocrine neoplasia I 1.079
EGF epidermal growth factor 1.079
DEFB4A defensin, beta 4A 1.076
POSTN periostin, osteoblast specific factor 1.071
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.067
F2 coagulation factor II (thrombin) 1.063
HNF4A hepatocyte nuclear factor 4, alpha 1.06
SMAD9 SMAD family member 9 1.058
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1.056
KREMEN2 kringle containing transmembrane protein 2 1.055
GPX7 glutathione peroxidase 7 1.049
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.047
CALCR calcitonin receptor 1.043
MB myoglobin 1.043
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.043
BCL2 B-cell CLL/lymphoma 2 1.041
SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 1.041
GPX6 glutathione peroxidase 6 1.041
GGPS1 geranylgeranyl diphosphate synthase 1 1.041
GPX8 glutathione peroxidase 8 (putative) 1.04
SLC39A8 solute carrier family 39 (zinc transporter), member 8 1.035
GCG glucagon 1.035
TP53 tumor protein p53 1.033
ELN elastin 1.031
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 1.03
GPX3 glutathione peroxidase 3 1.03
LOX lysyl oxidase 1.03
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.028
GPX5 glutathione peroxidase 5 1.028
GPX2 glutathione peroxidase 2 1.027
NCAM1 neural cell adhesion molecule 1 1.024
DLX5 distal-less homeobox 5 1.024
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.024
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.023
DCSTAMP dendrocyte expressed seven transmembrane protein 1.022
GSK3B glycogen synthase kinase 3 beta 1.022
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.016
LCN2 lipocalin 2 1.016
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.015
GHRL ghrelin/obestatin prepropeptide 1.012
UCMA upper zone of growth plate and cartilage matrix associated 1.011
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 1.01
IL15 interleukin 15 1.007
BEND2 BEN domain containing 2 1.005