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

MCID: BNS002 MIFTS: 25	Bone Structure Disease Categories: Bone diseases
Genes Tissues Related diseases Pathways Download Expand all tables

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Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080010

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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

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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 all 27)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.1	FTH1 GDF5
2	spondylolisthesis	31.5	BMP2 FTH1 GDF5 IVD MMP3
3	scoliosis	29.6	ACAN COL2A1 LBX1 NF1 ROBO3 SELENON
4	bone deterioration disease	29.0	ACAN BMP2 CILP COL2A1 COL9A3 FTH1
5	achondrogenesis, type ia	10.7	ACAN COL2A1
6	polyradiculopathy	10.7	ACAN BMP2 IVD
7	spondylosis	10.7
8	tympanosclerosis	10.6	BMP2 COL2A1
9	ischemic bone disease	10.6	ACAN BMP2 COL2A1
10	scheuermann disease	10.6	COL2A1 COL9A3
11	synovial chondromatosis	10.6	BMP2 COL2A1 SOX9
12	coxa vara	10.5	COL2A1 MMP13
13	chondrosarcoma	10.5	MMP13 MMP3 SOX9
14	bone development disease	10.5	COL2A1 GDF5 SOX9
15	cartilage disease	10.5	ACAN COL2A1
16	back pain	10.4	CILP COL9A3
17	multiple epiphyseal dysplasia	10.4	ACAN COL2A1 COL9A3
18	frozen shoulder	10.3	GDF5 MMP3
19	osteochondritis dissecans	10.3	ACAN COL9A3 MMP13 MMP3
20	bone disease	10.3	ACAN COL2A1 GDF5 MMP13
21	brachydactyly	10.3	BMP2 COL2A1 GDF5
22	spinal stenosis	10.3	ACAN COL2A1 COL9A3 MMP3
23	exotropia	10.2	ACAN ROBO3
24	degenerative disc disease	10.1	ACAN BMP2 COL9A3 GDF5 SOX9
25	bone inflammation disease	9.9	ACAN ADAMTS5 COL2A1 MMP13 MMP3
26	arthritis	9.9	ACAN ADAMTS5 COL2A1 MMP13 MMP3
27	osteoarthritis	9.1	ACAN ADAMTS5 CILP COL2A1 GDF5 MMP13

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:

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

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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

MalaCards organs/tissues related to Bone Structure Disease:

⁴¹

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 all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	IVD	Isovaleryl-CoA Dehydrogenase	Protein Coding	19.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	ACAN	Aggrecan	Protein Coding	18.57	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	FTH1	Ferritin Heavy Chain 1	Protein Coding	17.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	17.39	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	BMP2	Bone Morphogenetic Protein 2	Protein Coding	17.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MMP3	Matrix Metallopeptidase 3	Protein Coding	16.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MMP13	Matrix Metallopeptidase 13	Protein Coding	16.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	NF1	Neurofibromin 1	Protein Coding	16.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SOX9	SRY-Box 9	Protein Coding	16.71	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	GDF5	Growth Differentiation Factor 5	Protein Coding	16.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	16.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	16.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	16.31	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	CILP	Cartilage Intermediate Layer Protein	Protein Coding	16.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	LBX1	Ladybird Homeobox 1	Protein Coding	16.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	TBX6	T-Box 6	Protein Coding	16.25	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	16.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
18	SELENON	Selenoprotein N	Protein Coding	16.11	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
19	RPL34	Ribosomal Protein L34	Protein Coding	8.33	DISEASES inferred ¹⁵
20	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.1	DISEASES inferred ¹⁵
21	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.08	DISEASES inferred ¹⁵
22	FBN1	Fibrillin 1	Protein Coding	6.08	DISEASES inferred ¹⁵
23	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.07	DISEASES inferred ¹⁵
24	IL1B	Interleukin 1 Beta	Protein Coding	6.06	DISEASES inferred ¹⁵
25	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	6.04	DISEASES inferred ¹⁵

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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	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.88	ACAN ADAMTS5 BMP2 COL2A1 COL9A3 GDF5
2	Spinal Cord Injury ¹	11.58	ACAN COL2A1 SOX9
3	Neural Crest Differentiation ¹	11.44	COL2A1 SOX9 TBX6
4	Endochondral Ossification ¹	11.17	ACAN ADAMTS5 COL2A1 MMP13 SOX9
5	Cell adhesion_ECM remodeling ²²	11.12	COL2A1 MMP13 MMP3
6	Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway ¹	10.69	BMP2 COL2A1

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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 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

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Sources for Bone Structure Disease

¹ BioSystems

² BitterDB

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¹¹ DGIdb

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

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²⁵ Genetics Home Reference

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³³ ICD10

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁷¹ TGDB

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⁷⁶ Wikipedia