Chondrodysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1836182
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Genes

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

Symbol Name
ACAN aggrecan
AGPS alkylglycerone phosphate synthase
AMACR alpha-methylacyl-CoA racemase
ARSH arylsulfatase family, member H
ARSL arylsulfatase L
ATF4 activating transcription factor 4
BGN biglycan
BMP3 bone morphogenetic protein 3
BMPR1B bone morphogenetic protein receptor, type IB
BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2
CANT1 calcium activated nucleotidase 1
CD99 CD99 molecule
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN4 chloride channel, voltage-sensitive 4
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
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
CORO7-PAM16 CORO7-PAM16 readthrough
CRELD2 cysteine-rich with EGF-like domains 2
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DDIT3 DNA-damage-inducible transcript 3
DHCR24 24-dehydrocholesterol reductase
DMP1 dentin matrix acidic phosphoprotein 1
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
EVC2 Ellis van Creveld syndrome 2
FAR1 fatty acyl CoA reductase 1
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FGF21 fibroblast growth factor 21
FGF4 fibroblast growth factor 4
FGFR3 fibroblast growth factor receptor 3
GDF5 growth differentiation factor 5
GNPAT glyceronephosphate O-acyltransferase
GPC3 glypican 3
HAPLN1 hyaluronan and proteoglycan link protein 1
HDAC6 histone deacetylase 6
HHAT hedgehog acyltransferase
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPG2 heparan sulfate proteoglycan 2
INPPL1 inositol polyphosphate phosphatase-like 1
LEMD3 LEM domain containing 3
LPA lipoprotein, Lp(a)
MATN1 matrilin 1, cartilage matrix protein
MATN3 matrilin 3
MMRN1 multimerin 1
MVK mevalonate kinase
NPPC natriuretic peptide C
NSDHL NAD(P) dependent steroid dehydrogenase-like
NT5E 5'-nucleotidase, ecto (CD73)
PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae)
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PORCN porcupine homolog (Drosophila)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
QRICH1 glutamine-rich 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
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
SMAD4 SMAD family member 4
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOAT1 sterol O-acyltransferase 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STS steroid sulfatase (microsomal), isozyme S
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAPPC2 trafficking protein particle complex 2
TRAPPC2B trafficking protein particle complex 2B
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WDR19 WD repeat domain 19
WWTR1 WW domain containing transcription regulator 1