bone structure disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (Human Disease Ontology, DOID_0080010)
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Genes

259 genes co-occuring with the disease bone structure disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL6A1 collagen, type VI, alpha 1 2.30707
IVD isovaleryl-CoA dehydrogenase 2.28473
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1.86964
ACAN aggrecan 1.81149
BMP2 bone morphogenetic protein 2 1.71043
BMP7 bone morphogenetic protein 7 1.34417
FTH1 ferritin, heavy polypeptide 1 1.22302
CCDC34 coiled-coil domain containing 34 1.21565
SPX spexin hormone 1.21219
AVPR2 arginine vasopressin receptor 2 1.20483
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 1.11519
COL9A2 collagen, type IX, alpha 2 1.04546
CALCA calcitonin-related polypeptide alpha 1.01596
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 1.01174
TBPL1 TBP-like 1 1.00752
COL9A3 collagen, type IX, alpha 3 0.999503
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.944938
TSSK4 testis-specific serine kinase 4 0.937459
HTRA1 HtrA serine peptidase 1 0.93
GDF5 growth differentiation factor 5 0.929173
KLK8 kallikrein-related peptidase 8 0.927105
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.922974
LAX1 lymphocyte transmembrane adaptor 1 0.915963
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.902799
MATK megakaryocyte-associated tyrosine kinase 0.883521
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 0.879424
PGRMC1 progesterone receptor membrane component 1 0.870825
PARP15 poly (ADP-ribose) polymerase family, member 15 0.865093
NFYC nuclear transcription factor Y, gamma 0.829049
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 0.828639
DCD dermcidin 0.827819
MMP13 matrix metallopeptidase 13 0.827409
AMIGO2 adhesion molecule with Ig-like domain 2 0.813052
APLF aprataxin and PNKP like factor 0.812232
MMP3 matrix metallopeptidase 3 0.803616
FUS FUS RNA binding protein 0.781888
TRIM68 tripartite motif containing 68 0.778613
PRRC2A proline-rich coiled-coil 2A 0.776159
SOX9 SRY (sex determining region Y)-box 9 0.767576
HSF4 heat shock transcription factor 4 0.76431
PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 0.734622
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.730976
CANT1 calcium activated nucleotidase 1 0.729762
LIF leukemia inhibitory factor 0.709975
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 0.690694
FBXW2 F-box and WD repeat domain containing 2 0.682693
SLC22A9 solute carrier family 22 (organic anion transporter), member 9 0.681096
HGD homogentisate 1,2-dioxygenase 0.661594
C7ORF49 chromosome 7 open reading frame 49 0.620617
VAT1 vesicle amine transport 1 0.616312
NCOA1 nuclear receptor coactivator 1 0.609666
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 0.605762
S100B S100 calcium binding protein B 0.596402
LCK LCK proto-oncogene, Src family tyrosine kinase 0.590169
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.588612
PLA2G5 phospholipase A2, group V 0.581606
SDC4 syndecan 4 0.56722
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 0.565666
NOTCH1 notch 1 0.553627
GRK4 G protein-coupled receptor kinase 4 0.552851
CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 0.547419
C1ORF167 chromosome 1 open reading frame 167 0.545093
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.541217
TGFB1 transforming growth factor, beta 1 0.535022
TIMP1 TIMP metallopeptidase inhibitor 1 0.534635
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 0.524974
SETD2 SET domain containing 2 0.513417
FMOD fibromodulin 0.509959
IDS iduronate 2-sulfatase 0.508808
SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 0.503441
NOL9 nucleolar protein 9 0.485885
VCAN versican 0.483985
ALPPL2 alkaline phosphatase, placental-like 2 0.482844
ALPP alkaline phosphatase, placental 0.482464
ALPL alkaline phosphatase, liver/bone/kidney 0.481705
PIAS2 protein inhibitor of activated STAT, 2 0.476393
BGN biglycan 0.476014
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.468063
MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like 0.466172
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 0.461261
ARSD arylsulfatase D 0.457109
JAG2 jagged 2 0.446558
GALNS galactosamine (N-acetyl)-6-sulfatase 0.445429
TAC1 tachykinin, precursor 1 0.443923
IFT122 intraflagellar transport 122 0.44129
BMPR1A bone morphogenetic protein receptor, type IA 0.427015
COL2A1 collagen, type II, alpha 1 0.418019
SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 0.409787
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.402318
ADGRL4 adhesion G protein-coupled receptor L4 0.397471
BMP6 bone morphogenetic protein 6 0.39598
FGFR3 fibroblast growth factor receptor 3 0.389653
CRP C-reactive protein, pentraxin-related 0.387423
CD2BP2 CD2 (cytoplasmic tail) binding protein 2 0.387423
WRNIP1 Werner helicase interacting protein 1 0.386679
PDXK pyridoxal (pyridoxine, vitamin B6) kinase 0.381852
BIN2 bridging integrator 2 0.38111
PARK7 parkinson protein 7 0.379626
MRAP melanocortin 2 receptor accessory protein 0.377773
PTH parathyroid hormone 0.375179
BMPR1B bone morphogenetic protein receptor, type IB 0.370737
CASP9 caspase 9, apoptosis-related cysteine peptidase 0.365193
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.364824
CD6 CD6 molecule 0.364824
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor 0.364085
CTSK cathepsin K 0.353027
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.352291
KERA keratocan 0.351923
PERP PERP, TP53 apoptosis effector 0.345675
FN1 fibronectin 1 0.341639
BGLAP bone gamma-carboxyglutamate (gla) protein 0.340539
TIMP2 TIMP metallopeptidase inhibitor 2 0.329565
IL18RAP interleukin 18 receptor accessory protein 0.32774
COL9A1 collagen, type IX, alpha 1 0.32701
BID BH3 interacting domain death agonist 0.324823
MMP1 matrix metallopeptidase 1 0.324094
IL1B interleukin 1, beta 0.32009
KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 0.312102
POMP proteasome maturation protein 0.303781
NOTCH2 notch 2 0.298011
NOTCH2NL notch 2 N-terminal like 0.295492
LSR lipolysis stimulated lipoprotein receptor 0.281153
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.276158
DHFR dihydrofolate reductase 0.267267
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 0.266913
HOPX HOP homeobox 0.26514
PSAT1 phosphoserine aminotransferase 1 0.263722
FAM155B family with sequence similarity 155, member B 0.26266
CREM cAMP responsive element modulator 0.26266
TBX1 T-box 1 0.261599
FGF2 fibroblast growth factor 2 (basic) 0.258417
MYRF myelin regulatory factor 0.255241
TFCP2 transcription factor CP2 0.253127
MIA melanoma inhibitory activity 0.24996
CYB5R3 cytochrome b5 reductase 3 0.247852
PARP14 poly (ADP-ribose) polymerase family, member 14 0.245396
ENO2 enolase 2 (gamma, neuronal) 0.243645
MMP2 matrix metallopeptidase 2 0.241895
COMT catechol-O-methyltransferase 0.221108
NPS neuropeptide S 0.220766
EGLN3 egl-9 family hypoxia-inducible factor 3 0.211934
DST dystonin 0.208914
TNF tumor necrosis factor 0.208914
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.205254
COL11A2 collagen, type XI, alpha 2 0.204923
PNP purine nucleoside phosphorylase 0.204263
THBS2 thrombospondin 2 0.20229
JAG1 jagged 1 0.201962
GHR growth hormone receptor 0.199033
ITK IL2-inducible T-cell kinase 0.193285
CTSH cathepsin H 0.192971
ECI1 enoyl-CoA delta isomerase 1 0.191097
SLC26A2 solute carrier family 26 (anion exchanger), member 2 0.189551
FGF9 fibroblast growth factor 9 0.186811
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.18651
BMP2K BMP2 inducible kinase 0.18651
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.18591
BBS4 Bardet-Biedl syndrome 4 0.182666
PYCR1 pyrroline-5-carboxylate reductase 1 0.182666
DCN decorin 0.178682
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 0.178126
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 0.175947
NUMB numb homolog (Drosophila) 0.172291
CASP4 caspase 4, apoptosis-related cysteine peptidase 0.172291
BBC3 BCL2 binding component 3 0.168381
TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 0.165874
HMGA2 high mobility group AT-hook 2 0.165217
COL11A1 collagen, type XI, alpha 1 0.161716
ASPN asporin 0.161523
AMY2A amylase, alpha 2A (pancreatic) 0.161139
NGF nerve growth factor (beta polypeptide) 0.161139
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 0.159838
TSKU tsukushi, small leucine rich proteoglycan 0.148976
LARGE like-glycosyltransferase 0.143664
MARK2 MAP/microtubule affinity-regulating kinase 2 0.143449
AGA aspartylglucosaminidase 0.1434
GP1BA glycoprotein Ib (platelet), alpha polypeptide 0.142341
SHOX short stature homeobox 0.138792
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.13811
TIMP3 TIMP metallopeptidase inhibitor 3 0.137767
OR10K1 olfactory receptor, family 10, subfamily K, member 1 0.137526
MARK3 MAP/microtubule affinity-regulating kinase 3 0.137399
SP7 Sp7 transcription factor 0.136868
TLR2 toll-like receptor 2 0.136855
CALCR calcitonin receptor 0.136687
CYR61 cysteine-rich, angiogenic inducer, 61 0.136304
ECE1 endothelin converting enzyme 1 0.136056
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.135704
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0.13568
NT5C 5', 3'-nucleotidase, cytosolic 0.135656
CLEC2A C-type lectin domain family 2, member A 0.135436
FAM195A family with sequence similarity 195, member A 0.135294
TERT telomerase reverse transcriptase 0.134747
CD44 CD44 molecule (Indian blood group) 0.134181
AGXT alanine-glyoxylate aminotransferase 0.133223
FUT2 fucosyltransferase 2 (secretor status included) 0.131855
SETD1A SET domain containing 1A 0.128069
MB myoglobin 0.127671
CRK v-crk avian sarcoma virus CT10 oncogene homolog 0.127097
POLI polymerase (DNA directed) iota 0.126894
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 0.126669
SPAST spastin 0.125794
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 0.12559
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.125386
KLF6 Kruppel-like factor 6 0.124925
FICD FIC domain containing 0.123642
CFD complement factor D (adipsin) 0.122672
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.122278
IHH indian hedgehog 0.120343
LGALS3 lectin, galactoside-binding, soluble, 3 0.120233
CYB5A cytochrome b5 type A (microsomal) 0.11901
TNC tenascin C 0.118658
UBE2K ubiquitin-conjugating enzyme E2K 0.118357
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) 0.117091
FGF1 fibroblast growth factor 1 (acidic) 0.114658
LIG3 ligase III, DNA, ATP-dependent 0.114516
RBPJ recombination signal binding protein for immunoglobulin kappa J region 0.11448
IDUA iduronidase, alpha-L- 0.114162
DNASE1 deoxyribonuclease I 0.113914
FGF8 fibroblast growth factor 8 (androgen-induced) 0.113661
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.112931
EPHA4 EPH receptor A4 0.112894
SIRT2 sirtuin 2 0.112856
VIP vasoactive intestinal peptide 0.112743
LUM lumican 0.112517
FECH ferrochelatase 0.112104
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 0.111758
TLR4 toll-like receptor 4 0.111061
GLB1 galactosidase, beta 1 0.110941
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.110502
SHH sonic hedgehog 0.110104
FTO fat mass and obesity associated 0.109858
MMP9 matrix metallopeptidase 9 0.109735
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 0.10953
CCR1 chemokine (C-C motif) receptor 1 0.109448
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 0.109407
GPANK1 G patch domain and ankyrin repeats 1 0.109366
NPY neuropeptide Y 0.108868
FBL fibrillarin 0.108614
GCH1 GTP cyclohydrolase 1 0.10815
PRSS1 protease, serine, 1 (trypsin 1) 0.10785
MMP14 matrix metallopeptidase 14 (membrane-inserted) 0.107286
TLR1 toll-like receptor 1 0.107026
FASLG Fas ligand (TNF superfamily, member 6) 0.106893
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 0.106893
LY96 lymphocyte antigen 96 0.106759
HSF1 heat shock transcription factor 1 0.106759
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 0.106626
COL1A2 collagen, type I, alpha 2 0.105776
KL klotho 0.105639
MMP10 matrix metallopeptidase 10 0.105639
CNTF ciliary neurotrophic factor 0.105182
PPT1 palmitoyl-protein thioesterase 1 0.10463
KMT2A lysine (K)-specific methyltransferase 2A 0.104207
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.103786
DES desmin 0.103356
WRN Werner syndrome, RecQ helicase-like 0.102972
TSPO translocator protein (18kDa) 0.10278
FBLL1 fibrillarin-like 1 0.10195