craniometaphyseal dysplasia 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 mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. (Human Disease Ontology, DOID_0080033)
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39 genes co-occuring with the disease craniometaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ANKH ANKH inorganic pyrophosphate transport regulator 2.50606
ARSD arylsulfatase D 1.06732
SP7 Sp7 transcription factor 1.01427
DLL3 delta-like 3 (Drosophila) 0.95745
ADAM28 ADAM metallopeptidase domain 28 0.871643
BMP1 bone morphogenetic protein 1 0.841344
COL10A1 collagen, type X, alpha 1 0.811821
ACVR1 activin A receptor, type I 0.804846
LOXL2 lysyl oxidase-like 2 0.765535
RUNX2 runt-related transcription factor 2 0.666755
HDAC4 histone deacetylase 4 0.654858
MSX2 msh homeobox 2 0.637102
MSX1 msh homeobox 1 0.612011
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.60147
IHH indian hedgehog 0.583163
IBSP integrin-binding sialoprotein 0.582773
PHEX phosphate regulating endopeptidase homolog, X-linked 0.533088
GHR growth hormone receptor 0.431894
KLF4 Kruppel-like factor 4 (gut) 0.416521
LRP5 low density lipoprotein receptor-related protein 5 0.403811
ALPL alkaline phosphatase, liver/bone/kidney 0.398216
HRAS Harvey rat sarcoma viral oncogene homolog 0.351555
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.344207
FLNA filamin A, alpha 0.342372
GNAS GNAS complex locus 0.340539
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 0.336144
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 0.335778
CA2 carbonic anhydrase II 0.326646
SOX2 SRY (sex determining region Y)-box 2 0.308842
SEBOX SEBOX homeobox 0.277227
FGFR3 fibroblast growth factor receptor 3 0.276158
COL1A2 collagen, type I, alpha 2 0.270108
ADCY2 adenylate cyclase 2 (brain) 0.25877
ALPPL2 alkaline phosphatase, placental-like 2 0.254888
ALPP alkaline phosphatase, placental 0.254536
GJA1 gap junction protein, alpha 1, 43kDa 0.251366
MMP13 matrix metallopeptidase 13 0.240148
FGF23 fibroblast growth factor 23 0.209248
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.167452