metaphyseal dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. (Human Disease Ontology, DOID_0080019)
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Genes

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

Symbol Name Standardized Value
COL10A1 collagen, type X, alpha 1 2.60014
NKX3-2 NK3 homeobox 2 1.91874
PTHLH parathyroid hormone-like hormone 1.4632
CRELD2 cysteine-rich with EGF-like domains 2 1.34853
PTH1R parathyroid hormone 1 receptor 1.32323
SBDS Shwachman-Bodian-Diamond syndrome 1.31668
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.26386
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.17249
COL2A1 collagen, type II, alpha 1 1.00837
PTH parathyroid hormone 1.00794
WDR35 WD repeat domain 35 0.997814
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.896641
COMP cartilage oligomeric matrix protein 0.878605
ACP5 acid phosphatase 5, tartrate resistant 0.878605
COL9A3 collagen, type IX, alpha 3 0.80977
LHX4 LIM homeobox 4 0.783936
MANF mesencephalic astrocyte-derived neurotrophic factor 0.766759
SCTR secretin receptor 0.763086
COL9A2 collagen, type IX, alpha 2 0.71925
LTBP3 latent transforming growth factor beta binding protein 3 0.699517
LTBP2 latent transforming growth factor beta binding protein 2 0.660404
SOX3 SRY (sex determining region Y)-box 3 0.633956
OMD osteomodulin 0.61866
HESX1 HESX homeobox 1 0.609276
MC2R melanocortin 2 receptor (adrenocorticotropic hormone) 0.605762
ATF2 activating transcription factor 2 0.60264
COL11A2 collagen, type XI, alpha 2 0.596402
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.596402
MATN3 matrilin 3 0.552463
COL11A1 collagen, type XI, alpha 1 0.535796
RNASEH1 ribonuclease H1 0.50459
AIRE autoimmune regulator 0.494648
ALPPL2 alkaline phosphatase, placental-like 2 0.471468
ALPP alkaline phosphatase, placental 0.471089
ALPL alkaline phosphatase, liver/bone/kidney 0.470711
FGFR3 fibroblast growth factor receptor 3 0.4443
GK glycerol kinase 0.44129
PDE4D phosphodiesterase 4D, cAMP-specific 0.440538
TRPV4 transient receptor potential cation channel, subfamily V, member 4 0.436778
FGF23 fibroblast growth factor 23 0.42214
NR5A1 nuclear receptor subfamily 5, group A, member 1 0.410161
P4HB prolyl 4-hydroxylase, beta polypeptide 0.402318
CKM creatine kinase, muscle 0.373328
LAX1 lymphocyte transmembrane adaptor 1 0.353027
VCAN versican 0.313189
PCNA proliferating cell nuclear antigen 0.300173
HSPG2 heparan sulfate proteoglycan 2 0.297651
POMC proopiomelanocortin 0.270464
DCN decorin 0.210253
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.20229
RUNX2 runt-related transcription factor 2 0.166319
GNAS GNAS complex locus 0.160387
LOX lysyl oxidase 0.143547
ADCY2 adenylate cyclase 2 (brain) 0.141047
CALCA calcitonin-related polypeptide alpha 0.140601
CRH corticotropin releasing hormone 0.136547