Bone Structure Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease ¹¹ ¹⁴

Classifications:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080010

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Summaries for Bone Structure Disease

Disease Ontology: ¹¹ 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 ACAN (Aggrecan), and among its related pathways/superpathways are Extracellular matrix organization and Endochondral ossification. Affiliated tissues include bone, and related phenotypes are nervous system and limbs/digits/tail

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Related Diseases for Bone Structure Disease

Diseases related to Bone Structure Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.3	TBX6 BMP2 ACAN
2	spondylolisthesis	32.1	MMP3 MMP13 BMP2 ADAMTS5 ADAMTS4 ADAMTS3
3	scoliosis	31.9	TBX6 ROBO3 NF1 MMP3 MMP13 LBX1
4	bone deterioration disease	31.8	MMP3 MMP13 MIR494 MIR486-1 MIR2355 MIR17
5	spondylosis	11.0
6	spondyloepimetaphyseal dysplasia	10.5	MMP13 COL2A1 ACAN
7	tendinitis	10.5	MMP3 MMP13 ACAN
8	septic arthritis	10.5	MMP3 MMP13 ACAN
9	stickler syndrome	10.5	FBN1 COL2A1 ACAN
10	coxa vara	10.5	MMP13 COL2A1
11	reproductive system disease	10.5	MIR486-1 MIR27A MIR17 MIR140
12	fibrochondrogenesis	10.5	COL2A1 BMP2 ACAN
13	exotropia	10.5	ROBO3 FBN1 ACAN
14	laryngeal disease	10.5	MIR486-1 MIR27A MIR17 MIR140
15	retinal cancer	10.5	MIR486-1 MIR27A MIR17 MIR140
16	spinal stenosis	10.5	MMP3 MMP13 COL2A1 ACAN
17	heart valve disease	10.5	MIR486-1 MIR17 MIR140 FBN1
18	spondyloepimetaphyseal dysplasia, strudwick type	10.5	FBN1 COL2A1 ACAN
19	eye degenerative disease	10.5	PRODH MIR27A MIR17 MIR140
20	bone marrow cancer	10.5	MIR486-1 MIR27A MIR17 MIR140
21	chromosomal disease	10.5	PRODH MIR486-1 MIR17 MIR140
22	geleophysic dysplasia	10.5	FBN1 ADAMTS5 ADAMTS4
23	muscular disease	10.5	PRODH MIR486-1 MIR17 MIR140
24	aortic disease	10.5	MIR486-1 MIR27A MIR17 FBN1
25	stickler syndrome, type i	10.5	FBN1 COL2A1 BMP2
26	weill-marchesani syndrome	10.5	FBN1 ADAMTS5 ADAMTS4
27	physical disorder	10.5	PRODH MIR486-1 MIR17 MIR140
28	nasopharyngeal disease	10.5	MIR486-1 MIR27A MIR17 MIR140
29	pharynx cancer	10.5	MIR486-1 MIR27A MIR17 MIR140
30	hydrarthrosis	10.5	MMP3 ADAMTS5
31	oral cavity cancer	10.5	MIR486-1 MIR27A MIR17 MIR140
32	esophageal disease	10.5	MIR486-1 MIR27A MIR17 MIR140
33	osteochondrosis	10.5	MMP13 COL2A1 BMP2 ACAN
34	pectus carinatum	10.4	FBN1 COL2A1
35	upper respiratory tract disease	10.4	MIR486-1 MIR27A MIR17 MIR140
36	enchondromatosis, multiple, ollier type	10.4	MMP13 COL2A1 BMP2 ACAN
37	collagen disease	10.4	FBN1 COL2A1 ADAMTS4
38	retinal disease	10.4	MIR486-1 MIR27A MIR17 MIR140
39	cervix disease	10.4	MIR486-1 MIR27A MIR17 MIR140
40	cleidocranial dysplasia 1	10.4	MMP13 COL2A1 BMP2
41	synovitis	10.4	MMP3 MMP13 COL2A1 ACAN
42	bone resorption disease	10.4	MIR27A MIR17 MIR140 BMP2
43	integumentary system disease	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
44	acquired metabolic disease	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
45	overnutrition	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
46	disease of mental health	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
47	bone remodeling disease	10.4	MIR27A MIR17 MIR140 BMP2
48	sensory system disease	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
49	glucose metabolism disease	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140
50	carbohydrate metabolic disorder	10.4	PRODH MIR486-1 MIR27A MIR17 MIR140

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

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Symptoms & Phenotypes for Bone Structure Disease

MGI Mouse Phenotypes related to Bone Structure Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.1	ACAN ADAMTS3 ADAMTS4 BMP2 COL2A1 FBN1
2	limbs/digits/tail	MP:0005371	10	ACAN ADAMTS5 BMP2 COL2A1 FBN1 LBX1
3	hearing/vestibular/ear	MP:0005377	9.63	ACAN ADAMTS3 BMP2 COL2A1 NF1 ROBO3
4	craniofacial	MP:0005382	9.5	ACAN ADAMTS3 BMP2 COL2A1 FBN1 MIR140
5	skeleton	MP:0005390	9.47	ACAN ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1

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Drugs & Therapeutics for Bone Structure Disease

Search Clinical Trials, NIH Clinical Center for Bone Structure Disease

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Genetic Tests for Bone Structure Disease

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Anatomical Context for Bone Structure Disease

Organs/tissues related to Bone Structure Disease:

MalaCards : Bone

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Publications for Bone Structure Disease

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Genes for Bone Structure Disease

Genes related to Bone Structure Disease (0 elite genes):

(show top 50) (show all 59)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACAN	Aggrecan	Protein Coding	8.92	DISEASES inferred ¹⁴
2	MIR486-1	MicroRNA 486-1	RNA Gene	8.18	DISEASES inferred ¹⁴ ¹⁴
3	MIR17	MicroRNA 17	RNA Gene	7.96	DISEASES inferred ¹⁴ ¹⁴
4	PRODH	Proline Dehydrogenase 1	Protein Coding	7.82	DISEASES inferred ¹⁴ ¹⁴
5	MIR27A	MicroRNA 27a	RNA Gene	7.67	DISEASES inferred ¹⁴ ¹⁴
6	MMP13	Matrix Metallopeptidase 13	Protein Coding	7.66	DISEASES inferred ¹⁴
7	MIR140	MicroRNA 140	RNA Gene	7.66	DISEASES inferred ¹⁴ ¹⁴
8	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.66	DISEASES inferred ¹⁴
9	MIR2355	MicroRNA 2355	RNA Gene	7.62	DISEASES inferred ¹⁴ ¹⁴
10	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	7.58	DISEASES inferred ¹⁴
11	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	7.57	DISEASES inferred ¹⁴
12	MMP3	Matrix Metallopeptidase 3	Protein Coding	7.51	DISEASES inferred ¹⁴
13	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.5	DISEASES inferred ¹⁴
14	TBX6	T-Box Transcription Factor 6	Protein Coding	7.46	DISEASES inferred ¹⁴
15	FBN1	Fibrillin 1	Protein Coding	7.46	DISEASES inferred ¹⁴
16	MIR494	MicroRNA 494	RNA Gene	7.45	DISEASES inferred ¹⁴ ¹⁴
17	NF1	Neurofibromin 1	Protein Coding	7.4	DISEASES inferred ¹⁴
18	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	7.4	DISEASES inferred ¹⁴
19	BMP2	Bone Morphogenetic Protein 2	Protein Coding	7.39	DISEASES inferred ¹⁴
20	LBX1	Ladybird Homeobox 1	Protein Coding	7.36	DISEASES inferred ¹⁴
21	GDF5	Growth Differentiation Factor 5	Protein Coding	7.34	DISEASES inferred ¹⁴
22	MIR4726	MicroRNA 4726	RNA Gene	7.3	DISEASES inferred ¹⁴ ¹⁴
23	MIR223	MicroRNA 223	RNA Gene	7.3	DISEASES inferred ¹⁴ ¹⁴
24	SOX9	SRY-Box Transcription Factor 9	Protein Coding	7.29	DISEASES inferred ¹⁴
25	LSS	Lanosterol Synthase	Protein Coding	7.26	DISEASES inferred ¹⁴
26	IL1B	Interleukin 1 Beta	Protein Coding	7.14	DISEASES inferred ¹⁴
27	FXN	Frataxin	Protein Coding	7.05	DISEASES inferred ¹⁴
28	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	7.04	DISEASES inferred ¹⁴
29	SELENON	Selenoprotein N	Protein Coding	6.99	DISEASES inferred ¹⁴
30	MIR143	MicroRNA 143	RNA Gene	6.99	DISEASES inferred ¹⁴ ¹⁴
31	MIR125B1	MicroRNA 125b-1	RNA Gene	6.95	DISEASES inferred ¹⁴ ¹⁴
32	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	6.94	DISEASES inferred ¹⁴
33	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	6.9	DISEASES inferred ¹⁴
34	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	6.87	DISEASES inferred ¹⁴
35	TNF	Tumor Necrosis Factor	Protein Coding	6.87	DISEASES inferred ¹⁴
36	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	6.84	DISEASES inferred ¹⁴
37	RYR1	Ryanodine Receptor 1	Protein Coding	6.82	DISEASES inferred ¹⁴
38	IL6	Interleukin 6	Protein Coding	6.81	DISEASES inferred ¹⁴
39	PAX1	Paired Box 1	Protein Coding	6.78	DISEASES inferred ¹⁴
40	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6.75	DISEASES inferred ¹⁴
41	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	6.74	DISEASES inferred ¹⁴
42	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	6.73	DISEASES inferred ¹⁴
43	DMD	Dystrophin	Protein Coding	6.72	DISEASES inferred ¹⁴
44	IGF1	Insulin Like Growth Factor 1	Protein Coding	6.7	DISEASES inferred ¹⁴
45	FBN2	Fibrillin 2	Protein Coding	6.67	DISEASES inferred ¹⁴
46	SMN2	Survival Of Motor Neuron 2, Centromeric	Protein Coding	6.67	DISEASES inferred ¹⁴
47	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	6.62	DISEASES inferred ¹⁴
48	SMN1	Survival Of Motor Neuron 1, Telomeric	Protein Coding	6.6	DISEASES inferred ¹⁴
49	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.58	DISEASES inferred ¹⁴
50	MIR3158-1	MicroRNA 3158-1	RNA Gene	6.52	DISEASES inferred ¹⁴ ¹⁴

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Variations for Bone Structure Disease

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Expression for Bone Structure Disease

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

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Pathways for Bone Structure Disease

Pathways related to Bone Structure Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	11.92	MMP3 MMP13 FBN1 COL2A1 BMP2 ADAMTS5
2	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.45	MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
3	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.41	COL2A1 BMP2 ACAN
4	Cell adhesion_ECM remodeling ²²	11.12	MMP3 MMP13 COL2A1
5	Interactions between LOXL4 and oxidative stress pathway ⁷⁴	10.58	COL2A1 BMP2

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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 space	GO:0005615	9.96	ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 FBN1
2	collagen-containing extracellular matrix	GO:0062023	9.93	FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
3	extracellular matrix	GO:0031012	9.53	MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS4

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	10.22	ACAN ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
2	miRNA-mediated gene silencing	GO:0035195	10.21	MIR494 MIR486-1 MIR27A MIR2355 MIR17 MIR140
3	negative regulation of gene expression	GO:0010629	9.93	MIR494 MIR27A MIR17 MIR140 BMP2
4	collagen catabolic process	GO:0030574	9.88	MMP3 MMP13 ADAMTS3
5	skeletal system development	GO:0001501	9.85	FBN1 COL2A1 BMP2 ADAMTS4 ACAN
6	proteoglycan metabolic process	GO:0006029	9.8	COL2A1 BMP2
7	collagen fibril organization	GO:0030199	9.8	NF1 COL2A1 ADAMTS3 ACAN
8	positive regulation of vascular associated smooth muscle cell proliferation	GO:1904707	9.73	NF1 MIR27A MIR17
9	extracellular matrix disassembly	GO:0022617	9.56	ADAMTS4 ADAMTS5 MMP13 MMP3
10	miRNA-mediated gene silencing by mRNA destabilization	GO:0035279	9.5	MIR486-1 MIR27A MIR140
11	extracellular matrix organization	GO:0030198	9.47	NF1 MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS4
12	negative regulation of BMP secretion	GO:2001285	9.37	MIR140 MIR17

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peptidase activity	GO:0008233	9.92	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2	endopeptidase activity	GO:0004175	9.86	MMP3 MMP13 ADAMTS5 ADAMTS3
3	metalloendopeptidase activity	GO:0004222	9.85	ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
4	mRNA 3'-UTR binding	GO:0003730	9.67	MIR486-1 MIR27A MIR17 MIR140
5	metallopeptidase activity	GO:0008237	9.56	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
6	mRNA base-pairing translational repressor activity	GO:1903231	9.1	MIR494 MIR486-1 MIR27A MIR2355 MIR17 MIR140

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Sources for Bone Structure Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: BNS002 MIFTS: 23	Bone Structure Disease Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
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