osteopetrosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (Human Disease Ontology, DOID_13533)
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Genes

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

Symbol Name Standardized Value
CLCN7 chloride channel, voltage-sensitive 7 2.73143
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 2.60632
OSTM1 osteopetrosis associated transmembrane protein 1 2.34117
CA2 carbonic anhydrase II 2.07533
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 1.99641
MIR4315-1 microRNA 4315-1 1.82459
MIR4315-2 microRNA 4315-2 1.82459
CSF1 colony stimulating factor 1 (macrophage) 1.72365
CTSK cathepsin K 1.69178
SNX10 sorting nexin 10 1.66375
ADO 2-aminoethanethiol (cysteamine) dioxygenase 1.57735
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.53657
ACPP acid phosphatase, prostate 1.4733
DNAH8 dynein, axonemal, heavy chain 8 1.32279
TYROBP TYRO protein tyrosine kinase binding protein 1.28304
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.24385
SLC4A2 solute carrier family 4 (anion exchanger), member 2 1.22432
CCDC154 coiled-coil domain containing 154 1.21219
MITF microphthalmia-associated transcription factor 1.20007
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.18755
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.18712
BGLAP bone gamma-carboxyglutamate (gla) protein 1.18066
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 1.17507
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 1.15538
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.15198
DCSTAMP dendrocyte expressed seven transmembrane protein 1.14645
SIGLEC15 sialic acid binding Ig-like lectin 15 1.14645
CSF1R colony stimulating factor 1 receptor 1.11645
ALPPL2 alkaline phosphatase, placental-like 2 1.10552
ALPP alkaline phosphatase, placental 1.10468
ALPL alkaline phosphatase, liver/bone/kidney 1.10426
FERMT3 fermitin family member 3 1.08412
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 1.06564
ALYREF Aly/REF export factor 1.0463
CLCN3 chloride channel, voltage-sensitive 3 1.02524
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 1.00288
PTH parathyroid hormone 1.00077
LRP5 low density lipoprotein receptor-related protein 5 0.99233
FOS FBJ murine osteosarcoma viral oncogene homolog 0.95745
MSX2 msh homeobox 2 0.940364
ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c 0.931656
RGS10 regulator of G-protein signaling 10 0.908965
OSCAR osteoclast associated, immunoglobulin-like receptor 0.883521
CSK c-src tyrosine kinase 0.861818
CALCA calcitonin-related polypeptide alpha 0.861409
GBP4 guanylate binding protein 4 0.859771
TFEC transcription factor EC 0.812642
ACP5 acid phosphatase 5, tartrate resistant 0.786394
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.776159
FERMT2 fermitin family member 2 0.767985
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.720865
SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 0.718039
FOSL1 FOS-like antigen 1 0.705949
SOST sclerostin 0.663181
RPL12 ribosomal protein L12 0.651694
TSPAN16 tetraspanin 16 0.626103
FERMT1 fermitin family member 1 0.624143
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 0.61866
PLEK pleckstrin 0.617094
NFIA nuclear factor I/A 0.615529
DEFB105B defensin, beta 105B 0.613183
SEBOX SEBOX homeobox 0.60186
RUNX2 runt-related transcription factor 2 0.589001
RPS19BP1 ribosomal protein S19 binding protein 1 0.582773
EXTL2 exostosin-like glycosyltransferase 2 0.5645
SP7 Sp7 transcription factor 0.563723
AACS acetoacetyl-CoA synthetase 0.550134
S1PR2 sphingosine-1-phosphate receptor 2 0.548971
ANKH ANKH inorganic pyrophosphate transport regulator 0.54393
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 0.535796
MSX1 msh homeobox 1 0.535796
SPI1 Spi-1 proto-oncogene 0.533475
LRRK1 leucine-rich repeat kinase 1 0.529608
GC group-specific component (vitamin D binding protein) 0.526132
TRAPPC10 trafficking protein particle complex 10 0.522273
S1PR1 sphingosine-1-phosphate receptor 1 0.51842
BSND barttin CLCNK-type chloride channel accessory beta subunit 0.513802
SWAP70 SWAP switching B-cell complex 70kDa subunit 0.500761
IHH indian hedgehog 0.495793
KIAA0226 KIAA0226 0.494266
FYN FYN proto-oncogene, Src family tyrosine kinase 0.491978
PTHLH parathyroid hormone-like hormone 0.491215
GPNMB glycoprotein (transmembrane) nmb 0.490454
BMP2 bone morphogenetic protein 2 0.483604
SLC4A3 solute carrier family 4 (anion exchanger), member 3 0.47753
SPP1 secreted phosphoprotein 1 0.471468
JDP2 Jun dimerization protein 2 0.468819
TFEB transcription factor EB 0.463149
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.454847
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.447311
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.442042
ITGB5 integrin, beta 5 0.430393
GAB2 GRB2-associated binding protein 2 0.424014
WWP1 WW domain containing E3 ubiquitin protein ligase 1 0.419892
EDARADD EDAR-associated death domain 0.411657
NFIB nuclear factor I/B 0.398962
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 0.389653
SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 0.389281
TNF tumor necrosis factor 0.385565
TGM5 transglutaminase 5 0.385565
DMP1 dentin matrix acidic phosphoprotein 1 0.381852
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 0.371847
KL klotho 0.364824
UVRAG UV radiation resistance associated 0.360764
KLRAP1 killer cell lectin-like receptor subfamily A pseudogene 1 0.35892
SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 0.348614
CA4 carbonic anhydrase IV 0.346777
AMELY amelogenin, Y-linked 0.343106
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.339806
LIM2 lens intrinsic membrane protein 2, 19kDa 0.337608
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 0.330295
CALCR calcitonin receptor 0.325552
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.324458
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 0.317909
TLN1 talin 1 0.317182
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.313915
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.313552
AMELX amelogenin, X-linked 0.312827
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 0.295851
AMBN ameloblastin (enamel matrix protein) 0.294413
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.293694
CRTAP cartilage associated protein 0.285444
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 0.280796
TREM2 triggering receptor expressed on myeloid cells 2 0.279367
PPA1 pyrophosphatase (inorganic) 1 0.278654
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.277227
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor 0.276514
P3H1 prolyl 3-hydroxylase 1 0.275445
GATA2 GATA binding protein 2 0.272953
ACP2 acid phosphatase 2, lysosomal 0.27153
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 0.27153
TFE3 transcription factor binding to IGHM enhancer 3 0.266913
COL1A1 collagen, type I, alpha 1 0.265494
SPHK1 sphingosine kinase 1 0.261952
PCSK2 proprotein convertase subtilisin/kexin type 2 0.257005
CLCN6 chloride channel, voltage-sensitive 6 0.250311
WRAP73 WD repeat containing, antisense to TP73 0.249608
SLC26A6 solute carrier family 26 (anion exchanger), member 6 0.24715
BLNK B-cell linker 0.242945
ARF1 ADP-ribosylation factor 1 0.236312
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.234573
VAV3 vav 3 guanine nucleotide exchange factor 0.23353
CLIC1 chloride intracellular channel 1 0.231795
TMEM51 transmembrane protein 51 0.228679
ZP3 zona pellucida glycoprotein 3 (sperm receptor) 0.22145
GMPS guanine monphosphate synthase 0.221108
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.217352
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 0.212271
COL1A2 collagen, type I, alpha 2 0.211934
CTSS cathepsin S 0.211261
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) 0.210925
ANO5 anoctamin 5 0.210253
SH3BP2 SH3-domain binding protein 2 0.206248
YES1 YES proto-oncogene 1, Src family tyrosine kinase 0.200656
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 0.199681
FGFR3 fibroblast growth factor receptor 3 0.198064
CA14 carbonic anhydrase XIV 0.192344
HLA-A major histocompatibility complex, class I, A 0.185612
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.185612
PREB prolactin regulatory element binding 0.179239
ACVR1 activin A receptor, type I 0.173057
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 0.16933
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.168381
PPIB peptidylprolyl isomerase B (cyclophilin B) 0.163111
PTPN6 protein tyrosine phosphatase, non-receptor type 6 0.15948