Cleidocranial Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0008928
Similar Terms
Downloads & Tools

Genes

47 genes associated with the disease Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
BMP6 bone morphogenetic protein 6
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CREBBP CREB binding protein
DSPP dentin sialophosphoprotein
EIF4E eukaryotic translation initiation factor 4E
ELANE elastase, neutrophil expressed
FGFR1 fibroblast growth factor receptor 1
IBSP integrin-binding sialoprotein
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL17A interleukin 17A
LMNA lamin A/C
MSX2 msh homeobox 2
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
NELL1 NEL-like 1 (chicken)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PCBP4 poly(rC) binding protein 4
PHGDH phosphoglycerate dehydrogenase
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
POU5F1 POU class 5 homeobox 1
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
RNF146 ring finger protein 146
RPTOR regulatory associated protein of MTOR, complex 1
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SCN5A sodium channel, voltage gated, type V alpha subunit
SIRT1 sirtuin 1
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SOX9 SRY (sex determining region Y)-box 9
STK11 serine/threonine kinase 11
TBX1 T-box 1
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCTE1 t-complex-associated-testis-expressed 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI3K TNNI3 interacting kinase
ZNF645 zinc finger protein 645