Multiple Epiphyseal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. (Human Disease Ontology, DOID_12721)
External Link https://www.disgenet.org/browser/0/1/0/C0026760
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Genes

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

Symbol Name
ACAN aggrecan
ADAMTSL2 ADAMTS-like 2
BCL2 B-cell CLL/lymphoma 2
CANT1 calcium activated nucleotidase 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRELD2 cysteine-rich with EGF-like domains 2
DDIT3 DNA-damage-inducible transcript 3
DLL3 delta-like 3 (Drosophila)
EGF epidermal growth factor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
GLB1 galactosidase, beta 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
IFT81 intraflagellar transport 81
KDR kinase insert domain receptor
KIF7 kinesin family member 7
MANF mesencephalic astrocyte-derived neurotrophic factor
MATN3 matrilin 3
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SOST sclerostin
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VEGFA vascular endothelial growth factor A
VWF von Willebrand factor
XBP1 X-box binding protein 1