Spondyloepiphyseal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1837657
Similar Terms
Downloads & Tools

Genes

34 genes associated with the disease Spondyloepiphyseal 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
CD38 CD38 molecule
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COMP cartilage oligomeric matrix protein
DLL3 delta-like 3 (Drosophila)
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
GLB1 galactosidase, beta 1
HAPLN1 hyaluronan and proteoglycan link protein 1
HSPG2 heparan sulfate proteoglycan 2
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
KDR kinase insert domain receptor
MBTPS1 membrane-bound transcription factor peptidase, site 1
PANK1 pantothenate kinase 1
PANK2 pantothenate kinase 2
RPL10 ribosomal protein L10
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOST sclerostin
STX5 syntaxin 5
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
TRAPPC2 trafficking protein particle complex 2
TRAPPC2B trafficking protein particle complex 2B
TRAPPC9 trafficking protein particle complex 9
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VEGFA vascular endothelial growth factor A
WISP3 WNT1 inducible signaling pathway protein 3
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZNF547 zinc finger protein 547