Intervertebral Disc Degeneration Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of degenerative changes of intervertebral disk. (Human Phenotype Ontology, HP_0008419)
External Link https://www.disgenet.org/browser/0/1/0/C0158266
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Genes

286 genes associated with the disease Intervertebral Disc Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACTB actin, beta
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7
ADGRG6 adhesion G protein-coupled receptor G6
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMH anti-Mullerian hormone
ANGPT2 angiopoietin 2
ANGPTL8 angiopoietin like 8
APOE apolipoprotein E
AQP3 aquaporin 3 (Gill blood group)
AR androgen receptor
ASIC3 acid sensing (proton gated) ion channel 3
ASPN asporin
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAK1 BCL2-antagonist/killer 1
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BGN biglycan
BMP2 bone morphogenetic protein 2
BMP7 bone morphogenetic protein 7
BRD4 bromodomain containing 4
CA12 carbonic anhydrase XII
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL3 chemokine (C-C motif) ligand 3
CCL4 chemokine (C-C motif) ligand 4
CCN2 cellular communication network factor 2
CD38 CD38 molecule
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CDA cytidine deaminase
CDK9 cyclin-dependent kinase 9
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMT catechol-O-methyltransferase
COX2
CPQ carboxypeptidase Q
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CSMD1 CUB and Sushi multiple domains 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
DCT dopachrome tautomerase
DCTN4 dynactin 4 (p62)
DDIT3 DNA-damage-inducible transcript 3
DDIT4 DNA-damage-inducible transcript 4
DGCR2 DiGeorge syndrome critical region gene 2
DMD dystrophin
E2F4 E2F transcription factor 4, p107/p130-binding
EDN1 endothelin 1
EEF2 eukaryotic translation elongation factor 2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN3 egl-9 family hypoxia-inducible factor 3
EIF1 eukaryotic translation initiation factor 1
EPAS1 endothelial PAS domain protein 1
EPHB2 EPH receptor B2
ERRFI1 ERBB receptor feedback inhibitor 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAF1 Fas (TNFRSF6) associated factor 1
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FLNB filamin B, beta
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXC2 forkhead box C2
FOXO1 forkhead box O1
FOXO3 forkhead box O3
FSTL1 follistatin-like 1
FTO fat mass and obesity associated
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAP43 growth associated protein 43
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GLI1 GLI family zinc finger 1
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPC6 glypican 6
GRAP2 GRB2-related adaptor protein 2
GRB10 growth factor receptor-bound protein 10
GRN granulin
GSR glutathione reductase
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HAPLN1 hyaluronan and proteoglycan link protein 1
HGD homogentisate 1,2-dioxygenase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HOXD10 homeobox D10
HPSE heparanase
HTRA1 HtrA serine peptidase 1
IAPP islet amyloid polypeptide
ICAM1 intercellular adhesion molecule 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP3 insulin-like growth factor binding protein 3
IGFBP5 insulin-like growth factor binding protein 5
IGFBP6 insulin-like growth factor binding protein 6
IL10 interleukin 10
IL13 interleukin 13
IL16 interleukin 16
IL17A interleukin 17A
IL18RAP interleukin 18 receptor accessory protein
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL21 interleukin 21
IL22 interleukin 22
IL37 interleukin 37
IL6 interleukin 6
IVD isovaleryl-CoA dehydrogenase
JAG2 jagged 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIAA1217 KIAA1217
KLF5 Kruppel-like factor 5 (intestinal)
KRT5 keratin 5, type II
KRT8 keratin 8, type II
LAMP2 lysosomal-associated membrane protein 2
LDHA lactate dehydrogenase A
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LIF leukemia inhibitory factor
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LMNA lamin A/C
LTF lactotransferrin
MAP2K6 mitogen-activated protein kinase kinase 6
MAP3K9 mitogen-activated protein kinase kinase kinase 9
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MATN3 matrilin 3
MC3R melanocortin 3 receptor
MC5R melanocortin 5 receptor
MCAM melanoma cell adhesion molecule
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MYD88 myeloid differentiation primary response 88
NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFE2L2 nuclear factor, erythroid 2-like 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH1 notch 1
NOTCH2 notch 2
NOV nephroblastoma overexpressed
NPPA natriuretic peptide A
NRF1 nuclear respiratory factor 1
NUP62 nucleoporin 62kDa
OPA1 optic atrophy 1 (autosomal dominant)
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PARK2 parkin RBR E3 ubiquitin protein ligase
PDLIM7 PDZ and LIM domain 7 (enigma)
PECAM1 platelet/endothelial cell adhesion molecule 1
PGP phosphoglycolate phosphatase
PHLPP1 PH domain and leucine rich repeat protein phosphatase 1
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLXNA1 plexin A1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PON1 paraoxonase 1
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRL prolactin
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RAB7A RAB7A, member RAS oncogene family
RAB7B RAB7B, member RAS oncogene family
RANBP2 RAN binding protein 2
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RETN resistin
RHOBTB2 Rho-related BTB domain containing 2
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPL10 ribosomal protein L10
RPS23 ribosomal protein S23
RREB1 ras responsive element binding protein 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SESN3 sestrin 3
SETD2 SET domain containing 2
SHOX short stature homeobox
SHOX2 short stature homeobox 2
SIM2 single-minded family bHLH transcription factor 2
SIRT1 sirtuin 1
SIRT2 sirtuin 2
SIRT3 sirtuin 3
SIRT6 sirtuin 6
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SMAD1 SMAD family member 1
SMAD3 SMAD family member 3
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SOD2 superoxide dismutase 2, mitochondrial
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRGN serglycin
SRR serine racemase
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SULF1 sulfatase 1
SUMO2 small ubiquitin-like modifier 2
SYT1 synaptotagmin I
TAC1 tachykinin, precursor 1
TBPL1 TBP-like 1
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFEB transcription factor EB
TGFB1 transforming growth factor, beta 1
THBS2 thrombospondin 2
TIGAR TP53 induced glycolysis regulatory phosphatase
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP63 tumor protein p63
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHZ3 teashirt zinc finger homeobox 3
TUG1 taurine up-regulated 1 (non-protein coding)
TXNIP thioredoxin interacting protein
TYRP1 tyrosinase-related protein 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
WNK1 WNK lysine deficient protein kinase 1
WNT11 wingless-type MMTV integration site family, member 11
WNT5A wingless-type MMTV integration site family, member 5A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XYLT1 xylosyltransferase I
YAP1 Yes-associated protein 1
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta