cleidocranial dysplasia 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 mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (Human Disease Ontology, DOID_13994)
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Genes

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

Symbol Name Standardized Value
RUNX2 runt-related transcription factor 2 3.20342
RUNX1 runt-related transcription factor 1 1.41358
RUNX3 runt-related transcription factor 3 1.28479
MSX2 msh homeobox 2 1.19229
TCTE1 t-complex-associated-testis-expressed 1 1.12698
OAZ2 ornithine decarboxylase antizyme 2 1.02271
CBFB core-binding factor, beta subunit 1.00077
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 0.949936
SP7 Sp7 transcription factor 0.894179
NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 0.767167
CUL7 cullin 7 0.764718
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 0.712796
HOXC8 homeobox C8 0.696707
BMP2 bone morphogenetic protein 2 0.676308
NELL1 NEL-like 1 (chicken) 0.673917
BGLAP bone gamma-carboxyglutamate (gla) protein 0.670732
AXIN2 axin 2 0.651298
MSX1 msh homeobox 1 0.631991
OAZ1 ornithine decarboxylase antizyme 1 0.630813
IHH indian hedgehog 0.620226
ALPPL2 alkaline phosphatase, placental-like 2 0.606933
ALPP alkaline phosphatase, placental 0.606543
ALPL alkaline phosphatase, liver/bone/kidney 0.606152
HDAC3 histone deacetylase 3 0.605372
MAP3K7 mitogen-activated protein kinase kinase kinase 7 0.604201
SHH sonic hedgehog 0.579272
FIG4 FIG4 phosphoinositide 5-phosphatase 0.564889
MAPK11 mitogen-activated protein kinase 11 0.560616
DCLK1 doublecortin-like kinase 1 0.553627
PTCH2 patched 2 0.544705
LIG3 ligase III, DNA, ATP-dependent 0.535409
ANKH ANKH inorganic pyrophosphate transport regulator 0.508808
SMAD6 SMAD family member 6 0.498467
TRPS1 trichorhinophalangeal syndrome I 0.482464
ADAR adenosine deaminase, RNA-specific 0.474498
COL10A1 collagen, type X, alpha 1 0.471089
ACVR1 activin A receptor, type I 0.46466
SMAD5 SMAD family member 5 0.458619
PAX9 paired box 9 0.435651
SOX9 SRY (sex determining region Y)-box 9 0.434899
TOB1 transducer of ERBB2, 1 0.431894
LRP5 low density lipoprotein receptor-related protein 5 0.42289
BMP4 bone morphogenetic protein 4 0.394863
GNAS GNAS complex locus 0.37555
WDR20 WD repeat domain 20 0.371847
DSPP dentin sialophosphoprotein 0.36741
MAP2K3 mitogen-activated protein kinase kinase 3 0.34384
ACAN aggrecan 0.333218
FGF10 fibroblast growth factor 10 0.331025
HDAC4 histone deacetylase 4 0.326646
BMP6 bone morphogenetic protein 6 0.300533
SMAD4 SMAD family member 4 0.298011
FGFR3 fibroblast growth factor receptor 3 0.294413
VEGFB vascular endothelial growth factor B 0.266913
PITX2 paired-like homeodomain 2 0.259477
PTCH1 patched 1 0.248554
ZEB2 zinc finger E-box binding homeobox 2 0.243295
WNT3A wingless-type MMTV integration site family, member 3A 0.194548
FGF1 fibroblast growth factor 1 (acidic) 0.1936
ATF4 activating transcription factor 4 0.18621
SPTA1 spectrin, alpha, erythrocytic 1 0.183835
MIR146A microRNA 146a 0.177576
TWIST1 twist family bHLH transcription factor 1 0.172038
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.164149
TCF3 transcription factor 3 0.163317
KLF10 Kruppel-like factor 10 0.158605