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

MCID: BNS002 MIFTS: 27	Bone Structure Disease Categories: Bone diseases
Genes Tissues Related diseases Pathways 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 G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include bone and lung, and related phenotypes are cardiovascular system and cellular

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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 32)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	31.6	FTH1 GDF5
2	spondylolisthesis	31.4	MMP3 IVD GDF5 FTH1 BMP2
3	scoliosis	30.8	TBX6 SH3TC2 ROBO3 NF1 LBX1 COL2A1
4	bone deterioration disease	30.4	SOX9 RPL34 MMP3 MMP13 IVD GDF5
5	spondylosis	10.8
6	bone chondrosarcoma	10.2	ACAN MMP13
7	pseudoarthrosis	10.2	BMP2 NF1
8	polyradiculopathy	10.2	IVD BMP2 ACAN
9	achondrogenesis, type ia	10.2	ACAN COL2A1
10	brachydactyly, type a2	10.2	MMP3 GDF5 BMP2
11	ischemic bone disease	10.2	COL2A1 BMP2 ACAN
12	synovial chondromatosis	10.2	SOX9 COL2A1 BMP2
13	scheuermann disease	10.2	COL2A1 COL9A3
14	brachydactyly	10.2	BMP2 COL2A1 GDF5
15	tympanosclerosis	10.2	BMP2 COL2A1
16	bone development disease	10.2	SOX9 GDF5 COL2A1
17	chondrosarcoma	10.2	MMP13 MMP3 SOX9
18	coxa vara	10.1	COL2A1 MMP13
19	frozen shoulder	10.1	GDF5 MMP3
20	hydrarthrosis	10.1	MMP3 MMP13 ADAMTS5
21	autosomal dominant disease	10.1	ACAN COL2A1 NF1
22	multiple epiphyseal dysplasia	10.1	COL2A1 COL9A3 ACAN
23	idiopathic scoliosis	10.1	LBX1 ADGRG6 ACAN
24	osteochondritis dissecans	10.1	MMP3 MMP13 COL9A3 ACAN
25	bone disease	10.1	MMP13 GDF5 COL2A1 ACAN
26	cartilage disease	10.1	ACAN COL2A1
27	spinal stenosis	10.1	MMP3 COL9A3 COL2A1 ACAN
28	degenerative disc disease	10.0	SOX9 GDF5 COL9A3 BMP2 ACAN
29	simpson-golabi-behmel syndrome, type 1	10.0	ACAN COL2A1
30	arthritis	10.0	MMP3 MMP13 COL2A1 ADAMTS5 ACAN
31	bone inflammation disease	9.9	SOX9 MMP3 MMP13 COL2A1 ADAMTS5 ACAN
32	osteoarthritis	9.7	SOX9 MMP3 MMP13 GDF5 COL2A1 CILP

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	cardiovascular system	MP:0005385	10.07	ADGRG6 BMP2 COL2A1 FTH1 LBX1 MMP13
2	cellular	MP:0005384	10.06	ADAMTS5 ADGRG6 BMP2 COL2A1 FTH1 LBX1
3	mortality/aging	MP:0010768	9.93	ADGRG6 BMP2 COL2A1 FTH1 GDF5 IVD
4	limbs/digits/tail	MP:0005371	9.91	ADAMTS5 BMP2 COL2A1 GDF5 LBX1 MMP13
5	nervous system	MP:0003631	9.7	ADGRG6 BMP2 COL2A1 FTH1 LBX1 MMP3
6	skeleton	MP:0005390	9.36	ADAMTS5 ADGRG6 BMP2 COL2A1 GDF5 MMP13

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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, Lung

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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	19.21	DISEASES inferred ¹⁵
2	ACAN	Aggrecan	Protein Coding	18.63	DISEASES inferred ¹⁵
3	FTH1	Ferritin Heavy Chain 1	Protein Coding	17.45	DISEASES inferred ¹⁵
4	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	17.36	DISEASES inferred ¹⁵
5	BMP2	Bone Morphogenetic Protein 2	Protein Coding	17.05	DISEASES inferred ¹⁵
6	MMP3	Matrix Metallopeptidase 3	Protein Coding	16.94	DISEASES inferred ¹⁵
7	MMP13	Matrix Metallopeptidase 13	Protein Coding	16.89	DISEASES inferred ¹⁵
8	GDF5	Growth Differentiation Factor 5	Protein Coding	16.75	DISEASES inferred ¹⁵
9	SOX9	SRY-Box 9	Protein Coding	16.73	DISEASES inferred ¹⁵
10	NF1	Neurofibromin 1	Protein Coding	16.7	DISEASES inferred ¹⁵
11	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	16.56	DISEASES inferred ¹⁵
12	TBX6	T-Box 6	Protein Coding	16.46	DISEASES inferred ¹⁵
13	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	16.41	DISEASES inferred ¹⁵
14	CILP	Cartilage Intermediate Layer Protein	Protein Coding	16.36	DISEASES inferred ¹⁵
15	LBX1	Ladybird Homeobox 1	Protein Coding	16.18	DISEASES inferred ¹⁵
16	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	16.17	DISEASES inferred ¹⁵
17	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	16.16	DISEASES inferred ¹⁵
18	RPL34	Ribosomal Protein L34	Protein Coding	8.35	DISEASES inferred ¹⁵
19	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.12	DISEASES inferred ¹⁵
20	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.37	DISEASES inferred ¹⁵
21	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	6.12	DISEASES inferred ¹⁵
22	IL1B	Interleukin 1 Beta	Protein Coding	6.12	DISEASES inferred ¹⁵
23	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	6.11	DISEASES inferred ¹⁵ ¹⁵
24	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.08	DISEASES inferred ¹⁵
25	SELENON	Selenoprotein N	Protein Coding	6.05	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	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	11.82	ACAN COL2A1 COL9A3 MMP13 MMP3
3	Microglia Activation During Neuroinflammation: Overview ⁶⁵ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁵	11.71	ACAN ADAMTS5 MMP3
4	Spinal Cord Injury ¹	11.66	ACAN COL2A1 SOX9
5	Neural Crest Differentiation ¹	11.55	COL2A1 SOX9 TBX6
6	Endochondral Ossification ¹	11.17	ACAN ADAMTS5 COL2A1 MMP13 SOX9
7	Cell adhesion_ECM remodeling ²²	11.12	COL2A1 MMP13 MMP3
8	Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway ¹	10.78	BMP2 COL2A1
9	G-protein signaling_Rap2B regulation pathway ²²	10.56	ACAN BMP2 COL2A1 COL9A3 GDF5

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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	9.76	ADAMTS5 BMP2 CILP COL2A1 COL9A3 GDF5
2	extracellular region	GO:0005576	9.65	ACAN ADAMTS5 BMP2 CILP COL2A1 COL9A3
3	collagen-containing extracellular matrix	GO:0062023	9.62	ACAN ADAMTS5 CILP COL2A1
4	collagen trimer	GO:0005581	9.43	COL2A1 COL9A3 MMP13
5	extracellular matrix	GO:0031012	9.1	ACAN ADAMTS5 COL2A1 COL9A3 MMP13 MMP3

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

(show all 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	9.93	BMP2 FTH1 LBX1 NF1 SOX9
2	heart development	GO:0007507	9.87	ACAN BMP2 NF1 SOX9
3	central nervous system development	GO:0007417	9.8	ACAN COL2A1 SOX9
4	ossification	GO:0001503	9.77	BMP2 COL2A1 SOX9
5	skeletal system development	GO:0001501	9.71	ACAN BMP2 COL2A1 SOX9
6	extracellular matrix disassembly	GO:0022617	9.7	ADAMTS5 MMP13 MMP3
7	regulation of MAPK cascade	GO:0043408	9.69	BMP2 GDF5 NF1
8	extracellular matrix organization	GO:0030198	9.65	ACAN COL2A1 COL9A3 NF1 SOX9
9	positive regulation of chondrocyte differentiation	GO:0032332	9.64	GDF5 SOX9
10	tissue homeostasis	GO:0001894	9.63	COL2A1 SOX9
11	cell fate specification	GO:0001708	9.62	SOX9 TBX6
12	negative regulation of chondrocyte differentiation	GO:0032331	9.62	GDF5 SOX9
13	chondrocyte development	GO:0002063	9.61	ACAN SOX9
14	endocardial cushion morphogenesis	GO:0003203	9.61	BMP2 SOX9
15	collagen fibril organization	GO:0030199	9.61	ACAN COL2A1 NF1
16	positive regulation of cartilage development	GO:0061036	9.6	BMP2 SOX9
17	limb bud formation	GO:0060174	9.58	COL2A1 SOX9
18	notochord development	GO:0030903	9.58	COL2A1 SOX9
19	negative regulation of insulin-like growth factor receptor signaling pathway	GO:0043569	9.56	BMP2 CILP
20	proteoglycan metabolic process	GO:0006029	9.55	BMP2 COL2A1
21	cellular response to BMP stimulus	GO:0071773	9.54	BMP2 COL2A1 SOX9
22	cartilage condensation	GO:0001502	9.5	ACAN COL2A1 SOX9
23	otic vesicle development	GO:0071599	9.49	COL2A1 SOX9
24	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.48	GDF5 SOX9
25	anterior head development	GO:0097065	9.46	COL2A1 SOX9
26	myelination in peripheral nervous system	GO:0022011	9.33	ADGRG6 NF1 SH3TC2
27	chondrocyte differentiation	GO:0002062	9.26	BMP2 COL2A1 GDF5 SOX9
28	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	GO:0005201	8.92	ACAN CILP COL2A1 COL9A3

Sources

Sources for Bone Structure Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia