IDD
MCID: INT146
MIFTS: 62

Intervertebral Disc Disease (IDD)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Intervertebral Disc Disease

MalaCards integrated aliases for Intervertebral Disc Disease:

Name: Intervertebral Disc Disease 57 53 25 75 55 40
Intervertebral Disc Degeneration 53 25 44 73
Intervertebral Disc Disorder 25 29 6 73
Lumbar Disc Disease 57 75 55 73
Idd 57 53 25 75
Intervertebral Disc Disease, Susceptibility to 57 13 6
Lumbar Disc Herniation, Susceptibility to 57 6
Lumbar Disc Disease, Susceptibility to 57 6
Lumbar Disc Degeneration 57 75
Lumbar Disc Herniation 57 75
Lumbar Disc Degeneration, Susceptibility to 6
Degeneration of Lumbar Intervertebral Disc 73
Abnormality of the Intervertebral Disk 29
Intervertebral Disk Degeneration 25
Intervertebral Disc Displacement 44
Intervertebral Disk Displacement 73
Disorder of Intervertebral Disc 25
Intervertebral Disk Disease 75
Degenerative Disc Disease 53
Discogenic Disorder 25
Discogenic Disease 25
Ldd 75
Ldh 75

Classifications:



Summaries for Intervertebral Disc Disease

NIH Rare Diseases : 53 Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. Both environmental and genetic factors are thought to predispose an individual to developing the condition. Treatment for IDD may include physical therapy, pain medications, and sometimes surgical intervention such as discectomy or spinal fusion.

MalaCards based summary : Intervertebral Disc Disease, also known as intervertebral disc degeneration, is related to radiculopathy and degenerative disc disease, and has symptoms including sciatica An important gene associated with Intervertebral Disc Disease is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Mepivacaine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spinal cord, and related phenotypes are immune system and integument

Genetics Home Reference : 25 Intervertebral disc disease is a common condition characterized by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebrae), causing pain in the back or neck and frequently in the legs and arms. The intervertebral discs provide cushioning between vertebrae and absorb pressure put on the spine.

OMIM : 57 Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999). (603932)

UniProtKB/Swiss-Prot : 75 Intervertebral disc disease: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.

Related Diseases for Intervertebral Disc Disease

Diseases related to Intervertebral Disc Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 radiculopathy 30.9 IL1A IL6
2 degenerative disc disease 30.2 ASPN COL9A3 VDR
3 osteoarthritis 30.2 ASPN CILP IL1B IL6
4 spondylosis 29.9 IL1B VDR
5 osteomyelitis 29.8 IL1A IL1B IL6
6 arthritis 29.7 IL1A IL1B IL6 MMP9
7 rheumatoid arthritis 29.6 IL1A IL1B IL6 MMP9
8 osteoporosis 29.4 IL1A IL1B IL6 VDR
9 asthma 29.2 IL1A IL1B IL4R IL6 MMP9
10 lactate dehydrogenase b deficiency 11.9
11 cowden syndrome 1 11.8
12 lactate dehydrogenase deficiency 11.7
13 spondyloepiphyseal dysplasia with congenital joint dislocations 11.3
14 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.2
15 follicular lymphoma 11.1
16 testicular seminoma 11.1
17 fanconi-bickel syndrome 11.0
18 glycogen storage disease due to lactate dehydrogenase deficiency 11.0
19 cauda equina syndrome 10.7
20 spinal stenosis 10.5
21 pain - chronic 10.4
22 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
23 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.3 COL9A2 COL9A3
24 epiphyseal dysplasia, multiple, 2 10.3 COL9A2 COL9A3
25 epiphyseal dysplasia, multiple, 3 10.2 COL9A2 COL9A3
26 epiphyseal dysplasia, multiple, 4 10.2 COL9A2 COL9A3
27 epiphyseal dysplasia, multiple, 5 10.2 COL9A2 COL9A3
28 body mass index quantitative trait locus 1 10.2
29 alkaptonuria 10.2
30 foot drop 10.2
31 diabetic foot ulcers 10.2 IL6 MMP9
32 acute transverse myelitis 10.2 IL6 MMP9
33 transverse myelitis 10.2 IL6 MMP9
34 melanoma 10.1
35 recurrent corneal erosion 10.1 IL1B IL6
36 vitreoretinal degeneration 10.1 COL11A1 COL9A2
37 bagassosis 10.1 IL1B IL6
38 paraneoplastic syndromes 10.1 IL1B IL6
39 periodontitis, chronic 10.1 IL1B IL6
40 anxiety 10.1
41 muscle hypertrophy 10.1
42 hemangioma 10.1
43 inguinal hernia 10.1
44 spondylolysis 10.1
45 photokeratitis 10.1 IL6 MMP9
46 uremic pruritus 10.1 IL1B IL6
47 glossitis 10.1 IL1B IL6
48 laryngitis 10.1 IL1B IL6
49 funisitis 10.1 IL1B IL6
50 euthyroid sick syndrome 10.1 IL1B IL6

Comorbidity relations with Intervertebral Disc Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Chronic Myocardial Ischemia Deficiency Anemia
Esophagitis Heart Disease
Hypertension, Essential Ischemic Heart Disease
Osteoporosis

Graphical network of the top 20 diseases related to Intervertebral Disc Disease:



Diseases related to Intervertebral Disc Disease

Symptoms & Phenotypes for Intervertebral Disc Disease

Clinical features from OMIM:

603932

UMLS symptoms related to Intervertebral Disc Disease:


sciatica

MGI Mouse Phenotypes related to Intervertebral Disc Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.92 COL11A1 IL1A IL1B IL4R IL6 MMP9
2 integument MP:0010771 9.8 IL1A IL1B IL4R IL6 MMP9 THBS2
3 limbs/digits/tail MP:0005371 9.63 ASPN COL11A1 COL9A2 MMP9 THBS2 VDR
4 neoplasm MP:0002006 9.35 IL1A IL1B IL6 MMP9 THBS2
5 skeleton MP:0005390 9.17 COL11A1 COL9A2 IL1B IL6 MMP9 THBS2

Drugs & Therapeutics for Intervertebral Disc Disease

Drugs for Intervertebral Disc Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mepivacaine Approved, Vet_approved Phase 1, Phase 2 96-88-8 4062
2 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
3 Calcium, Dietary Phase 1, Phase 2
4 Anesthetics, Local Phase 1, Phase 2,Not Applicable
5 Central Nervous System Depressants Phase 1, Phase 2,Not Applicable
6 Anesthetics Phase 1, Phase 2,Not Applicable
7
Diclofenac Approved, Vet_approved Not Applicable 15307-86-5 3033
8
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
9
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
10
Clonidine Approved Not Applicable 4205-90-7 2803
11
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 59-43-8, 70-16-6 1130
12
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
13 Analgesics Not Applicable
14 Vitamin B9 Not Applicable
15 Vitamin B Complex Not Applicable
16 Analgesics, Non-Narcotic Not Applicable
17 Micronutrients Not Applicable
18 Anti-Inflammatory Agents Not Applicable
19 Thiamin Not Applicable
20 Antirheumatic Agents Not Applicable
21 Folate Not Applicable
22 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
23 Trace Elements Not Applicable
24 Vitamins Not Applicable
25 Cyclooxygenase Inhibitors Not Applicable
26 Pharmaceutical Solutions Early Phase 1
27 Complement C3
28 Triamcinolone hexacetonide Not Applicable
29 Hormones Not Applicable
30 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
31 Neurotransmitter Agents Not Applicable
32 Triamcinolone diacetate Not Applicable
33 Adrenergic alpha-Agonists Not Applicable
34 Adrenergic Agonists Not Applicable
35 Sympatholytics Not Applicable
36 Adrenergic Agents Not Applicable
37 triamcinolone acetonide Not Applicable
38 Adrenergic alpha-2 Receptor Agonists Not Applicable
39 Diuretics, Potassium Sparing Not Applicable
40 Immunosuppressive Agents Not Applicable
41 Anti-Arrhythmia Agents Not Applicable
42 Antihypertensive Agents Not Applicable
43 Sodium Channel Blockers Not Applicable
44 Hormone Antagonists Not Applicable
45 Autonomic Agents Not Applicable
46 glucocorticoids Not Applicable
47 Immunologic Factors Not Applicable
48 Mitogens
49
s 1 (combination)

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT02421601 Phase 3 Condoliase
2 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT01941563 Phase 3 Condoliase;placebo
3 Clinical Trial Based on the Use of Mesenchymal Stem Cells From Autologous Bone Marrow in Patients With Lumbar Intervertebral Degenerative Disc Disease Completed NCT01513694 Phase 1, Phase 2
4 Treatment of Degenerative Disc Disease With Allogenic Mesenchymal Stem Cells (MSV) Completed NCT01860417 Phase 1, Phase 2 Mepivacaine
5 Electroacupuncture for Sciatica Due to Intervertebral Disc Displacement Unknown status NCT02087462 Not Applicable Voltaren;Vitamin B1
6 Periduroscopy: Correlation Between the Outcome of Procedure and Histological-biochemical, Neuroinflammation and Genetic Factors. Unknown status NCT02076035
7 Clinical and Radiological Evaluation of Patients With DDD Following TLIF With 3-D Printed Titanium Cage Enrolling by invitation NCT03018392 Not Applicable
8 Mesenchymal Stem Cells for Lumbar Degenerative Disc Disease Not yet recruiting NCT03692221 Early Phase 1 MSC Treatment group 1 (low dose);MSC Treatment group 2 (high dose)
9 Triadyme-C, a Polycrystalline Diamond Compact Cervical Disc Replacement (cTDR) Active, not recruiting NCT02967575
10 Epidural Clonidine for Lumbosacral Radiculopathy Terminated NCT00588354 Not Applicable Clonidine;Triamcinolone hexacetonide;Lidocaine HCl
11 Alternative and Integrative Therapy for Lumbar Disk Herniation Completed NCT01989403
12 A Prospective Study of Instrumented, Posterolateral Lumbar Fusions (PLF) With OsteoAMP® Active, not recruiting NCT02225444
13 PASS OCT® Post-market Clinical Follow-up Recruiting NCT02931279
14 Validation of the STarT Back Screening Tool in the Military Recruiting NCT03127826 Not Applicable
15 Efficacy Study of NuCel® in Patients Undergoing Fusion of the Lumbar Spine Active, not recruiting NCT02023372 Not Applicable
16 Efficacy of Radiofrequency Nucleoplasty and Targeted Disc Decompression in Lumbar Radiculopathy Completed NCT02025283
17 A Prospective Study of NuCel® in Cervical Spine Fusion Terminated NCT02381067 Not Applicable
18 Observational Study on Integrative Korean Medicine Treatment(HIVD) Recruiting NCT03750591 Herbal medicine

Search NIH Clinical Center for Intervertebral Disc Disease

Cochrane evidence based reviews: intervertebral disc degeneration

Genetic Tests for Intervertebral Disc Disease

Genetic tests related to Intervertebral Disc Disease:

# Genetic test Affiliating Genes
1 Intervertebral Disc Disorder 29 ASPN CILP COL11A1 COL9A3 THBS2
2 Abnormality of the Intervertebral Disk 29

Anatomical Context for Intervertebral Disc Disease

MalaCards organs/tissues related to Intervertebral Disc Disease:

41
Bone, Bone Marrow, Spinal Cord, Lung, Liver, Heart, B Cells

Publications for Intervertebral Disc Disease

Articles related to Intervertebral Disc Disease:

(show top 50) (show all 652)
# Title Authors Year
1
Bone morphogenetic protein 2 alleviated intervertebral disc degeneration through mediating the degradation of ECM and apoptosis of nucleus pulposus cells via the PI3K/Akt pathway. ( 30387830 )
2019
2
Ventral Slot Surgery to Manage Cervical Intervertebral Disc Disease in Three Cats. ( 29325196 )
2018
3
Canine pancreatic lipase immunoreactivity concentrations associated with intervertebral disc disease in 84 dogs. ( 29355958 )
2018
4
Intervertebral Disc Degeneration During Postoperative Follow-up More Than 10 Years After Corrective Surgery in Idiopathic Scoliosis: Comparison Between Patients With and Without Surgery. ( 28678107 )
2018
5
Effects of interleukin-17A in nucleus pulposus cells and its small-molecule inhibitors for intervertebral disc disease. ( 30207057 )
2018
6
The effect of body condition on postoperative recovery of dachshunds with intervertebral disc disease treated with postoperative physical rehabilitation. ( 30549081 )
2018
7
Osteoporosis of the vertebra and osteochondral remodeling of the endplate causes intervertebral disc degeneration in ovariectomized mice. ( 30201052 )
2018
8
Leptin and the intervertebral disc: a biochemical link exists between obesity, intervertebral disc degeneration and low back pain-an in vitro study in a bovine model. ( 30324498 )
2018
9
Protective effect of estrogen against intervertebral disc degeneration is attenuated by miR-221 through targeting estrogen receptor α. ( 29529124 )
2018
10
Transplantation of Hypoxic-Preconditioned Bone Mesenchymal Stem Cells Retards Intervertebral Disc Degeneration via Enhancing Implanted Cell Survival and Migration in Rats. ( 29535780 )
2018
11
Dysregulated MiR-3150a-3p Promotes Lumbar Intervertebral Disc Degeneration by Targeting Aggrecan. ( 29554650 )
2018
12
Understanding the molecular biology of intervertebral disc degeneration and potential gene therapy strategies for regeneration: a review. ( 29567950 )
2018
13
Novel stepwise model of intervertebral disc degeneration with intact annulus fibrosus to test regeneration strategies. ( 29603340 )
2018
14
A novel mouse model of intervertebral disc degeneration shows altered cell fate and matrix homeostasis. ( 29605718 )
2018
15
Association of IL10 and TGFB single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population: a case control study. ( 29636026 )
2018
16
Quantitative magnetic resonance imaging for diagnosis of intervertebral disc degeneration of the cervico-thoracic junction: a pilot study. ( 29636882 )
2018
17
Circular RNA circ-4099 is induced by TNF-α and regulates ECM synthesis by blocking miR-616-5p inhibition of Sox9 in intervertebral disc degeneration. ( 29651107 )
2018
18
Meta-Analysis of the Association Between FAS Ligand and TRAIL Genetic Polymorphisms and Intervertebral Disc Degeneration Susceptibility in Chinese Han population. ( 29652777 )
2018
19
Wnt5a suppresses inflammation-driven intervertebral disc degeneration via a TNF-α/NF-κB-Wnt5a negative-feedback loop. ( 29656141 )
2018
20
Apparent Diffusion Coefficient of Diffusion-Weighted Imaging in Evaluation of Cervical Intervertebral Disc Degeneration: An Observational Study with 3.0 T Magnetic Resonance Imaging. ( 29670903 )
2018
21
The Role of Adipokines in Intervertebral Disc Degeneration. ( 29695079 )
2018
22
Silencing SUMO2 promotes protection against degradation and apoptosis of nucleus pulposus cells through p53 signaling pathway in intervertebral disc degeneration. ( 29700214 )
2018
23
Evaluation of Lumbar Intervertebral Disc Degeneration Using T1ρ and T2 Magnetic Resonance Imaging in a Rabbit Disc Injury Model. ( 29713414 )
2018
24
A novel in vivo porcine model of intervertebral disc degeneration induced by cryoinjury. ( 29744650 )
2018
25
A Qualitative and Quantitative Correlation Study of Lumbar Intervertebral Disc Degeneration Using Glycosaminoglycan Chemical Exchange Saturation Transfer, Pfirrmann Grade, and T1-ρ. ( 29748204 )
2018
26
microRNA-665 promotes the proliferation and matrix degradation of nucleus pulposus through targeting GDF5 in intervertebral disc degeneration. ( 29761869 )
2018
27
Current insights on use of growth factors as therapy for Intervertebral Disc Degeneration. ( 29779014 )
2018
28
Endplate Defect Is Heritable, Associated With Low Back Pain and Triggers Intervertebral Disc Degeneration: A Longitudinal Study From TwinsUK. ( 29847371 )
2018
29
Association of interleukin 1 gene polymorphism with intervertebral disc degeneration risk in the Chinese Han population. ( 29884765 )
2018
30
Experimental research on the effect of microRNA-21 inhibitor on a rat model of intervertebral disc degeneration. ( 29896228 )
2018
31
Comprehensive evaluation of differential lncRNA and gene expression in patients with intervertebral disc degeneration. ( 29901136 )
2018
32
Autophagy attenuates compression-induced apoptosis of human nucleus pulposus cells via MEK/ERK/NRF1/Atg7 signaling pathways during intervertebral disc degeneration. ( 29908161 )
2018
33
Progranulin Is Positively Associated with Intervertebral Disc Degeneration by Interaction with IL-10 and IL-17 Through TNF Pathways. ( 29992506 )
2018
34
Roles of large aggregating proteoglycans in human intervertebral disc degeneration. ( 29992840 )
2018
35
Regenerative potential of human nucleus pulposus resident stem/progenitor cells declines with ageing and intervertebral disc degeneration. ( 30015833 )
2018
36
Cell type-specific effects of Notch signaling activation on intervertebral discs: Implications for intervertebral disc degeneration. ( 30025440 )
2018
37
Long non-coding RNAs in nucleus pulposus cell function and intervertebral disc degeneration. ( 30039593 )
2018
38
AMOT130 linking F-actin to YAP is involved in intervertebral disc degeneration. ( 30039887 )
2018
39
In-Vivo Nucleus Pulposus-Specific Regulation of Adult Murine Intervertebral Disc Degeneration via Wnt/Beta-Catenin Signaling. ( 30046041 )
2018
40
17β-Estradiol inhibits intervertebral disc degeneration by down-regulating MMP-3 and MMP-13 and up-regulating type II collagen in a rat model. ( 30056756 )
2018
41
Assessment of intervertebral disc degeneration-related properties using finite element models based on [Formula: see text]-weighted MRI data. ( 30074099 )
2018
42
Analysis of genetic polymorphisms associated with intervertebral disc degeneration. ( 30084796 )
2018
43
CircularRNA_104670 plays a critical role in intervertebral disc degeneration by functioning as a ceRNA. ( 30089772 )
2018
44
Significant association of TNF-α, but not other pro-inflammatory cytokines, single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population. ( 30092407 )
2018
45
Cervical Intervertebral Disc Degeneration Contributes to Dizziness: A Clinical and Immunohistochemical Study. ( 30092465 )
2018
46
Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study. ( 30099472 )
2018
47
A percutaneous, minimally invasive annulus fibrosus needle puncture model of intervertebral disc degeneration in rabbits. ( 30114959 )
2018
48
Evaluation of Percutaneous Intradiscal Amniotic Suspension Allograft in a Rabbit Model of Intervertebral Disc Degeneration. ( 30138254 )
2018
49
Upregulation of glycosaminoglycan synthesis by Neurotropin in nucleus pulposus cells via stimulation of chondroitin sulfate N-acetylgalactosaminyltransferase 1: A new approach to attenuation of intervertebral disc degeneration. ( 30148873 )
2018
50
Intervertebral disc degeneration induced by long-segment in-situ immobilization: a macro, micro, and nanoscale analysis. ( 30153821 )
2018

Variations for Intervertebral Disc Disease

UniProtKB/Swiss-Prot genetic disease variations for Intervertebral Disc Disease:

75
# Symbol AA change Variation ID SNP ID
1 COL9A2 p.Gln326Trp VAR_012658 rs137853213

ClinVar genetic disease variations for Intervertebral Disc Disease:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASPN NM_017680.4(ASPN): c.112_114GAT[14] (p.Asp50_Glu51insAsp) NT expansion risk factor rs387906276 GRCh37 Chromosome 9, 95237030: 95237032
2 ASPN NM_017680.4(ASPN): c.112_114GAT[14] (p.Asp50_Glu51insAsp) NT expansion risk factor rs387906276 GRCh38 Chromosome 9, 92474748: 92474750
3 CILP NM_003613.3(CILP): c.1184T> C (p.Ile395Thr) single nucleotide variant risk factor rs2073711 GRCh37 Chromosome 15, 65494212: 65494212
4 CILP NM_003613.3(CILP): c.1184T> C (p.Ile395Thr) single nucleotide variant risk factor rs2073711 GRCh38 Chromosome 15, 65201874: 65201874
5 THBS2 NM_003247.3(THBS2): c.1478-8C> T single nucleotide variant risk factor rs9406328 GRCh38 Chromosome 6, 169234915: 169234915
6 THBS2 NM_003247.3(THBS2): c.1478-8C> T single nucleotide variant risk factor rs9406328 GRCh37 Chromosome 6, 169635010: 169635010
7 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant Benign rs1676486 GRCh37 Chromosome 1, 103354138: 103354138
8 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant Benign rs1676486 GRCh38 Chromosome 1, 102888582: 102888582
9 COL9A3 NM_001853.3(COL9A3): c.307C> T (p.Arg103Trp) single nucleotide variant risk factor rs61734651 GRCh37 Chromosome 20, 61451332: 61451332
10 COL9A3 NM_001853.3(COL9A3): c.307C> T (p.Arg103Trp) single nucleotide variant risk factor rs61734651 GRCh38 Chromosome 20, 62819980: 62819980
11 COL9A2 NM_001852.3(COL9A2): c.976_977delCAinsTG (p.Gln326Trp) indel Benign rs137853213 GRCh37 Chromosome 1, 40773149: 40773150
12 COL9A2 NM_001852.3(COL9A2): c.976_977delCAinsTG (p.Gln326Trp) indel Benign rs137853213 GRCh38 Chromosome 1, 40307477: 40307478
13 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh38 Chromosome 1, 40301193: 40301193
14 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh37 Chromosome 1, 40766865: 40766865

Expression for Intervertebral Disc Disease

Search GEO for disease gene expression data for Intervertebral Disc Disease.

Pathways for Intervertebral Disc Disease

Pathways related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 COL9A2 COL9A3 IL4R IL6 THBS2
2
Show member pathways
12.75 COL11A1 COL9A2 COL9A3 THBS2
3
Show member pathways
12.69 COL11A1 COL9A2 COL9A3 MMP9
4
Show member pathways
12.56 ASPN COL11A1 COL9A2 COL9A3 MMP9
5
Show member pathways
12.46 IL1A IL1B IL4R IL6
6
Show member pathways
12.08 IL1A IL1B IL6
7 12.05 IL1A IL1B IL6 VDR
8 12.04 IL1A IL1B IL6
9
Show member pathways
12 COL9A2 COL9A3 THBS2
10 11.97 IL1A IL1B MMP9
11
Show member pathways
11.95 IL1A IL1B IL4R IL6
12
Show member pathways
11.92 IL1B IL6 MMP9
13
Show member pathways
11.9 COL11A1 COL9A2 COL9A3 IL1A IL1B MMP9
14 11.85 IL1B IL6 MMP9
15 11.83 IL1A IL1B IL6
16 11.79 IL1A IL1B IL6
17 11.78 IL1A IL1B IL6 MMP9
18 11.74 IL1A IL1B IL6
19 11.71 IL1A IL1B IL6
20 11.66 IL1A IL1B IL4R IL6
21 11.65 IL1A IL1B IL6
22 11.6 IL1B IL6 MMP9
23 11.54 IL1B IL6 MMP9
24 11.49 ASPN COL9A2 COL9A3
25 11.41 IL1A IL1B IL6
26 11.4 IL1B IL6 THBS2
27 11.38 IL1A IL1B IL6
28
Show member pathways
11.26 IL1A IL1B IL6 MMP9
29 11.21 IL6 MMP9
30 11.2 IL1A IL1B IL6
31 11.18 IL1B IL6
32 11.18 IL1A IL1B IL6
33 11.16 IL1B IL6
34 11.08 IL1A IL1B IL6
35 11.08 IL1A IL1B IL4R IL6 MMP9
36 11.07 IL1A IL1B IL6
37 11.06 IL1B MMP9
38 10.91 IL1A IL1B IL6 VDR
39 10.64 COL11A1 COL9A2 COL9A3 IL1A IL1B IL6
40 10.43 IL1A IL1B

GO Terms for Intervertebral Disc Disease

Cellular components related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.67 COL11A1 COL9A2 COL9A3 IL6
2 collagen-containing extracellular matrix GO:0062023 9.65 ASPN CILP COL11A1 MMP9 THBS2
3 extracellular space GO:0005615 9.65 CILP COL11A1 COL9A2 COL9A3 IL1A IL1B
4 extracellular matrix GO:0031012 9.63 ASPN COL11A1 COL9A2 COL9A3 MMP9 THBS2
5 collagen trimer GO:0005581 9.58 COL11A1 COL9A2 COL9A3
6 extracellular region GO:0005576 9.36 ASPN CILP COL11A1 COL9A2 COL9A3 IL1A
7 collagen type IX trimer GO:0005594 9.32 COL9A2 COL9A3

Biological processes related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.83 IL1A IL1B IL4R IL6
2 negative regulation of cell proliferation GO:0008285 9.78 IL1A IL1B IL6 VDR
3 positive regulation of gene expression GO:0010628 9.76 IL1A IL1B IL6 VDR
4 skeletal system development GO:0001501 9.67 COL9A2 MMP9 VDR
5 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.57 IL1A IL1B
6 endodermal cell differentiation GO:0035987 9.56 COL11A1 MMP9
7 positive regulation of mitotic nuclear division GO:0045840 9.55 IL1A IL1B
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.54 IL1A IL1B
9 negative regulation of neurogenesis GO:0050768 9.51 IL1B IL6
10 extracellular matrix organization GO:0030198 9.46 COL11A1 COL9A2 COL9A3 MMP9
11 positive regulation of glial cell proliferation GO:0060252 9.43 IL1B IL6
12 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.4 IL1A IL1B
13 ovulation GO:0030728 9.37 IL1B IL4R
14 ectopic germ cell programmed cell death GO:0035234 9.32 IL1A IL1B
15 positive regulation of neuroinflammatory response GO:0150078 9.26 IL1B IL6
16 cytokine-mediated signaling pathway GO:0019221 9.02 IL1A IL1B IL4R IL6 MMP9
17 fever generation GO:0001660 8.96 IL1A IL1B

Molecular functions related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 IL1A IL1B IL6
2 interleukin-1 receptor binding GO:0005149 9.16 IL1A IL1B
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL11A1 COL9A2 COL9A3
4 extracellular matrix structural constituent GO:0005201 9.02 CILP COL11A1 COL9A2 COL9A3 THBS2

Sources for Intervertebral Disc Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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