osteogenesis imperfecta Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (Human Disease Ontology, DOID_12347)
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Genes

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

Symbol Name Standardized Value
COL1A2 collagen, type I, alpha 2 3.40202
COL1A1 collagen, type I, alpha 1 3.2268
CRTAP cartilage associated protein 2.64607
P3H1 prolyl 3-hydroxylase 1 2.63463
FKBP10 FK506 binding protein 10, 65 kDa 2.24417
PPIB peptidylprolyl isomerase B (cyclophilin B) 2.20256
IFITM5 interferon induced transmembrane protein 5 2.19563
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1.7903
TMEM38B transmembrane protein 38B 1.78759
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 1.53128
BMP1 bone morphogenetic protein 1 1.48516
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 1.37076
SP7 Sp7 transcription factor 1.28479
LRP5 low density lipoprotein receptor-related protein 5 1.28435
ALPPL2 alkaline phosphatase, placental-like 2 1.28304
ALPP alkaline phosphatase, placental 1.28261
ALPL alkaline phosphatase, liver/bone/kidney 1.28173
BGLAP bone gamma-carboxyglutamate (gla) protein 1.27999
P3H4 prolyl 3-hydroxylase family member 4 (non-enzymatic) 1.16307
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 1.15453
GPATCH8 G patch domain containing 8 1.09713
WNT1 wingless-type MMTV integration site family, member 1 1.06816
RNASE1 ribonuclease, RNase A family, 1 (pancreatic) 1.05892
CREB3L1 cAMP responsive element binding protein 3-like 1 1.02524
DSPP dentin sialophosphoprotein 1.01469
SOST sclerostin 1.01132
IBSP integrin-binding sialoprotein 0.985585
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 0.968341
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.947019
PTH parathyroid hormone 0.909787
COL3A1 collagen, type III, alpha 1 0.908965
PEPD peptidase D 0.847078
CALCA calcitonin-related polypeptide alpha 0.842163
COL2A1 collagen, type II, alpha 1 0.811821
MKRN1 makorin ring finger protein 1 0.808949
TOE1 target of EGR1, member 1 (nuclear) 0.804026
LOX lysyl oxidase 0.789672
FGFR3 fibroblast growth factor receptor 3 0.778204
DCN decorin 0.76431
PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 0.744766
MATN4 matrilin 4 0.695905
DLX3 distal-less homeobox 3 0.647743
P3H2 prolyl 3-hydroxylase 2 0.640645
COL5A1 collagen, type V, alpha 1 0.624535
NANOS3 nanos homolog 3 (Drosophila) 0.615138
NT5M 5',3'-nucleotidase, mitochondrial 0.611229
LIN37 lin-37 DREAM MuvB core complex component 0.603811
KRIT1 KRIT1, ankyrin repeat containing 0.60186
RGPD1 RANBP2-like and GRIP domain containing 1 0.589001
PTH1R parathyroid hormone 1 receptor 0.58005
GALNS galactosamine (N-acetyl)-6-sulfatase 0.574994
BMP2 bone morphogenetic protein 2 0.5645
RCE1 Ras converting CAAX endopeptidase 1 0.55945
TLL1 tolloid-like 1 0.557509
BGN biglycan 0.554403
AMELY amelogenin, Y-linked 0.545481
ZPBP2 zona pellucida binding protein 2 0.540442
THBS3 thrombospondin 3 0.52343
MFAP5 microfibrillar associated protein 5 0.518034
MSX1 msh homeobox 1 0.51534
AMELX amelogenin, X-linked 0.513417
SGCE sarcoglycan, epsilon 0.507273
TUFT1 tuftelin 1 0.499614
IHH indian hedgehog 0.498467
FN1 fibronectin 1 0.485885
RUNX2 runt-related transcription factor 2 0.484364
ST7 suppression of tumorigenicity 7 0.469197
FKBP9 FK506 binding protein 9, 63 kDa 0.444676
FKBP7 FK506 binding protein 7 0.442418
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 0.433772
FKBP3 FK506 binding protein 3, 25kDa 0.431144
DLX6 distal-less homeobox 6 0.424014
HTN3 histatin 3 0.41727
FKBP6 FK506 binding protein 6, 36kDa 0.416521
COL4A5 collagen, type IV, alpha 5 0.410161
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.407545
PRELP proline/arginine-rich end leucine-rich repeat protein 0.395235
RP9 retinitis pigmentosa 9 (autosomal dominant) 0.388166
FZD9 frizzled class receptor 9 0.359657
ICMT isoprenylcysteine carboxyl methyltransferase 0.345308
TRAPPC9 trafficking protein particle complex 9 0.337975
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.326646
FKBP2 FK506 binding protein 2, 13kDa 0.324458
PLS3 plastin 3 0.32373
ACPP acid phosphatase, prostate 0.323002
AXIN2 axin 2 0.312827
NOTO notochord homeobox 0.308118
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 0.306672
FBXO42 F-box protein 42 0.305948
GGT2 gamma-glutamyltransferase 2 0.305226
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 0.304142
IGF1 insulin-like growth factor 1 (somatomedin C) 0.297291
UGP2 UDP-glucose pyrophosphorylase 2 0.294053
AHSG alpha-2-HS-glycoprotein 0.292616
HAPLN1 hyaluronan and proteoglycan link protein 1 0.292257
SPP1 secreted phosphoprotein 1 0.29118
UBD ubiquitin D 0.284013
RANBP2 RAN binding protein 2 0.282225
TRIM47 tripartite motif containing 47 0.276158
BMP3 bone morphogenetic protein 3 0.274021
PPA1 pyrophosphatase (inorganic) 1 0.270464
DPYD dihydropyrimidine dehydrogenase 0.268332
LAX1 lymphocyte transmembrane adaptor 1 0.263368
SOX2 SRY (sex determining region Y)-box 2 0.251718
DAZL deleted in azoospermia-like 0.249257
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 0.240497
BLNK B-cell linker 0.23492
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 0.227297
PRKCZ protein kinase C, zeta 0.224196
GH2 growth hormone 2 0.212945
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 0.200982
ANKH ANKH inorganic pyrophosphate transport regulator 0.200656
STX8 syntaxin 8 0.198386
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 0.192344
TMEM51 transmembrane protein 51 0.191408
DLX5 distal-less homeobox 5 0.187719
TRPS1 trichorhinophalangeal syndrome I 0.17952
COL10A1 collagen, type X, alpha 1 0.171535
KLF4 Kruppel-like factor 4 (gut) 0.170299
ACVR1 activin A receptor, type I 0.167452
COMP cartilage oligomeric matrix protein 0.164571
PEG10 paternally expressed 10 0.161716
MEPE matrix extracellular phosphoglycoprotein 0.159124