MCID: BNS002
MIFTS: 25

Bone Structure Disease

Categories: Bone diseases

Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080010

Summaries for Bone Structure Disease

Disease Ontology : 12 A bone disease that has material basis in an abnormality in the location or function of the skeletal structure.

MalaCards based summary : Bone Structure Disease is related to spondylolysis and spondylolisthesis. An important gene associated with Bone Structure Disease is IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are Degradation of the extracellular matrix and Spinal Cord Injury. Affiliated tissues include bone, and related phenotypes are cellular and cardiovascular system

Related Diseases for Bone Structure Disease

Graphical network of the top 20 diseases related to Bone Structure Disease:



Diseases related to Bone Structure Disease

Symptoms & Phenotypes for Bone Structure Disease

MGI Mouse Phenotypes related to Bone Structure Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 ADAMTS5 BMP2 COL2A1 FTH1 LBX1 MMP13
2 cardiovascular system MP:0005385 9.97 BMP2 COL2A1 FTH1 LBX1 MMP13 NF1
3 limbs/digits/tail MP:0005371 9.81 ADAMTS5 BMP2 COL2A1 GDF5 LBX1 MMP13
4 nervous system MP:0003631 9.65 NF1 ROBO3 SH3TC2 SOX9 TBX6 BMP2
5 skeleton MP:0005390 9.36 SELENON SH3TC2 SOX9 TBX6 ADAMTS5 BMP2

Drugs & Therapeutics for Bone Structure Disease

Search Clinical Trials , NIH Clinical Center for Bone Structure Disease

Genetic Tests for Bone Structure Disease

Anatomical Context for Bone Structure Disease

MalaCards organs/tissues related to Bone Structure Disease:

41
Bone

Publications for Bone Structure Disease

Variations for Bone Structure Disease

Expression for Bone Structure Disease

Search GEO for disease gene expression data for Bone Structure Disease.

Pathways for Bone Structure Disease

GO Terms for Bone Structure Disease

Cellular components related to Bone Structure Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 ACAN ADAMTS5 BMP2 COL2A1 COL9A3 FTH1
2 collagen trimer GO:0005581 9.33 COL2A1 COL9A3 MMP13
3 extracellular matrix GO:0031012 9.02 ACAN CILP COL2A1 MMP13 MMP3

Biological processes related to Bone Structure Disease according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.92 BMP2 FTH1 LBX1 NF1 SOX9
2 central nervous system development GO:0007417 9.8 ACAN COL2A1 SOX9
3 ossification GO:0001503 9.74 BMP2 COL2A1 SOX9
4 collagen catabolic process GO:0030574 9.67 COL2A1 MMP13 MMP3
5 skeletal system development GO:0001501 9.67 ACAN BMP2 COL2A1 SOX9
6 extracellular matrix organization GO:0030198 9.65 ACAN COL2A1 COL9A3 NF1 SOX9
7 regulation of MAPK cascade GO:0043408 9.63 BMP2 GDF5 NF1
8 cell fate specification GO:0001708 9.62 SOX9 TBX6
9 cartilage condensation GO:0001502 9.62 COL2A1 SOX9
10 positive regulation of chondrocyte differentiation GO:0032332 9.61 GDF5 SOX9
11 tissue homeostasis GO:0001894 9.61 COL2A1 SOX9
12 negative regulation of chondrocyte differentiation GO:0032331 9.6 GDF5 SOX9
13 endocardial cushion morphogenesis GO:0003203 9.59 BMP2 SOX9
14 myelination in peripheral nervous system GO:0022011 9.58 NF1 SH3TC2
15 positive regulation of cartilage development GO:0061036 9.58 BMP2 SOX9
16 limb bud formation GO:0060174 9.56 COL2A1 SOX9
17 notochord development GO:0030903 9.55 COL2A1 SOX9
18 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.54 BMP2 CILP
19 proteoglycan metabolic process GO:0006029 9.51 BMP2 COL2A1
20 cellular response to BMP stimulus GO:0071773 9.5 BMP2 COL2A1 SOX9
21 otic vesicle development GO:0071599 9.48 COL2A1 SOX9
22 extracellular matrix disassembly GO:0022617 9.46 ACAN ADAMTS5 MMP13 MMP3
23 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.43 GDF5 SOX9
24 anterior head development GO:0097065 9.4 COL2A1 SOX9
25 chondrocyte differentiation GO:0002062 9.26 BMP2 COL2A1 GDF5 SOX9
26 cartilage development GO:0051216 9.02 BMP2 COL2A1 GDF5 MMP13 SOX9

Molecular functions related to Bone Structure Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.13 ADAMTS5 MMP13 MMP3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL9A3

Sources for Bone Structure 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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