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

MCID: BNS002 MIFTS: 24	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 RPL34 (Ribosomal Protein L34), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, and related phenotypes are cellular and growth/size/body region

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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 88)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.4	RPL34 GDF5 FTH1
2	spondylolisthesis	32.2	RPL34 MMP3 GDF5 FTH1 BMP2 ACAN
3	scoliosis	31.9	TBX6 ROBO3 NF1 MMP3 MMP13 FBN1
4	bone deterioration disease	31.6	RPL34 MMP3 MMP13 MIR486-1 GDF5 FTH1
5	spondylosis	11.0
6	plica syndrome	10.7	PES1 MMP3
7	radiculopathy	10.7	RPL34 BMP2 ACAN
8	scheuermann disease	10.7	RPL34 PES1 COL2A1
9	discitis	10.7	RPL34 FTH1 ACAN
10	hydrarthrosis	10.7	MMP3 ACAN
11	sciatic neuropathy	10.7	RPL34 PES1
12	peroneal nerve paralysis	10.6	PES1 COL2A1
13	osteochondrosis	10.6	PES1 COL2A1 ACAN
14	kohler's disease	10.6	PES1 COL2A1
15	tendinitis	10.6	PES1 MMP3 MMP13
16	enchondromatosis, multiple, ollier type	10.6	MMP13 COL2A1 ACAN
17	lesion of sciatic nerve	10.6	RPL34 PES1
18	avascular necrosis	10.6	COL2A1 BMP2
19	enophthalmos	10.6	PES1 FBN1 ERCC6
20	cerebellar disease	10.6	PRODH PES1 ERCC6
21	patent ductus arteriosus 1	10.6	PRODH PES1 FBN1
22	synostoses, tarsal, carpal, and digital	10.6	PES1 GDF5
23	polyradiculopathy	10.6	RPL34 FTH1 BMP2 ACAN
24	pectus carinatum	10.6	FBN1 COL2A1
25	collagen disease	10.6	FBN1 COL2A1 ADAMTS4
26	hypochondrogenesis	10.6	COL2A1 ACAN
27	sorsby fundus dystrophy	10.6	MMP3 MMP13 FBN1
28	ischemic bone disease	10.6	PES1 COL2A1 BMP2 ACAN
29	synovial chondromatosis	10.6	COL2A1 BMP2
30	coxa vara	10.6	MMP13 COL2A1
31	exotropia	10.6	ROBO3 PES1 FBN1 ACAN
32	cranial nerve disease	10.6	PES1 NF1 ERCC6
33	retinal lattice degeneration	10.6	FBN1 COL2A1
34	aortic aneurysm, familial abdominal, 1	10.6	MMP3 MMP13 FBN1
35	klippel-feil syndrome	10.6	TBX6 ROBO3 GDF5
36	synovitis	10.6	MMP3 MMP13 COL2A1 ACAN
37	arthropathy	10.6	MMP3 MMP13 COL2A1 ACAN
38	spondyloepimetaphyseal dysplasia, missouri type	10.6	MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
39	fibrochondrogenesis	10.6	GDF5 COL2A1 BMP2 ACAN
40	urinary system disease	10.6	PRODH MIR486-1 MIR27A ERCC6
41	orbital disease	10.6	PES1 NF1 FBN1 ERCC6
42	peripheral nervous system disease	10.6	RPL34 PRODH PES1 ERCC6
43	dyssegmental dysplasia, silverman-handmaker type	10.6	COL2A1 BMP2
44	immune system disease	10.6	PRODH MIR486-1 MIR27A ERCC6
45	spinal stenosis	10.6	RPL34 MMP3 MMP13 COL2A1 ACAN
46	clubfoot	10.6	PRODH PES1 GDF5 COL2A1
47	inguinal hernia	10.5	PES1 NF1 MMP13 FBN1
48	chondrosarcoma	10.5	MMP3 MMP13 BMP2 ADAMTS4
49	tethered spinal cord syndrome	10.5	RPL34 PES1
50	brachydactyly, type a1, b	10.5	GDF5 BMP2

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	cellular	MP:0005384	10.14	ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
2	growth/size/body region	MP:0005378	10.1	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
3	embryo	MP:0005380	10.02	ADAMTS3 BMP2 COL2A1 FBN1 GDF5 NF1
4	limbs/digits/tail	MP:0005371	9.85	ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
5	hearing/vestibular/ear	MP:0005377	9.73	ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
6	nervous system	MP:0003631	9.73	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
7	skeleton	MP:0005390	9.44	ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 ERCC6

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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:

⁴⁰

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 53)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RPL34	Ribosomal Protein L34	Protein Coding	9.09	DISEASES inferred ¹⁵
2	ACAN	Aggrecan	Protein Coding	9.01	DISEASES inferred ¹⁵
3	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	8.57	DISEASES inferred ¹⁵
4	PRODH	Proline Dehydrogenase 1	Protein Coding	8.26	DISEASES inferred ¹⁵ ¹⁵
5	MIR27A	MicroRNA 27a	RNA Gene	8.24	DISEASES inferred ¹⁵ ¹⁵
6	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.82	DISEASES inferred ¹⁵
7	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	7.73	DISEASES inferred ¹⁵
8	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	7.69	DISEASES inferred ¹⁵
9	MIR486-1	MicroRNA 486-1	RNA Gene	7.69	DISEASES inferred ¹⁵ ¹⁵
10	MMP13	Matrix Metallopeptidase 13	Protein Coding	7.68	DISEASES inferred ¹⁵
11	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.62	DISEASES inferred ¹⁵
12	MMP3	Matrix Metallopeptidase 3	Protein Coding	7.61	DISEASES inferred ¹⁵
13	FTH1	Ferritin Heavy Chain 1	Protein Coding	7.6	DISEASES inferred ¹⁵
14	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.56	DISEASES inferred ¹⁵ ¹⁵
15	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	7.56	DISEASES inferred ¹⁵
16	BMP2	Bone Morphogenetic Protein 2	Protein Coding	7.55	DISEASES inferred ¹⁵
17	TBX6	T-Box Transcription Factor 6	Protein Coding	7.55	DISEASES inferred ¹⁵
18	FBN1	Fibrillin 1	Protein Coding	7.54	DISEASES inferred ¹⁵
19	NF1	Neurofibromin 1	Protein Coding	7.54	DISEASES inferred ¹⁵
20	GDF5	Growth Differentiation Factor 5	Protein Coding	7.49	DISEASES inferred ¹⁵
21	SOX9	SRY-Box Transcription Factor 9	Protein Coding	7.45	DISEASES inferred ¹⁵
22	LBX1	Ladybird Homeobox 1	Protein Coding	7.45	DISEASES inferred ¹⁵
23	HECTD4	HECT Domain E3 Ubiquitin Protein Ligase 4	Protein Coding	7.15	DISEASES inferred ¹⁵
24	FXN	Frataxin	Protein Coding	7.14	DISEASES inferred ¹⁵
25	IL1B	Interleukin 1 Beta	Protein Coding	7.13	DISEASES inferred ¹⁵
26	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	7.12	DISEASES inferred ¹⁵
27	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.11	DISEASES inferred ¹⁵
28	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.1	DISEASES inferred ¹⁵
29	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	7.08	DISEASES inferred ¹⁵
30	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	7.06	DISEASES inferred ¹⁵
31	SELENON	Selenoprotein N	Protein Coding	7.04	DISEASES inferred ¹⁵
32	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	7.04	DISEASES inferred ¹⁵
33	MIR17	MicroRNA 17	RNA Gene	7.04	DISEASES inferred ¹⁵ ¹⁵
34	CILP	Cartilage Intermediate Layer Protein	Protein Coding	6.96	DISEASES inferred ¹⁵
35	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	6.95	DISEASES inferred ¹⁵
36	LSS	Lanosterol Synthase	Protein Coding	6.93	DISEASES inferred ¹⁵
37	RYR1	Ryanodine Receptor 1	Protein Coding	6.89	DISEASES inferred ¹⁵
38	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	6.88	DISEASES inferred ¹⁵
39	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	6.85	DISEASES inferred ¹⁵ ¹⁵
40	IL6	Interleukin 6	Protein Coding	6.84	DISEASES inferred ¹⁵
41	TNF	Tumor Necrosis Factor	Protein Coding	6.83	DISEASES inferred ¹⁵
42	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.82	DISEASES inferred ¹⁵
43	FBN2	Fibrillin 2	Protein Coding	6.8	DISEASES inferred ¹⁵
44	PAX1	Paired Box 1	Protein Coding	6.79	DISEASES inferred ¹⁵
45	HTRA1	HtrA Serine Peptidase 1	Protein Coding	6.78	DISEASES inferred ¹⁵
46	DMD	Dystrophin	Protein Coding	6.72	DISEASES inferred ¹⁵
47	IGF1	Insulin Like Growth Factor 1	Protein Coding	6.7	DISEASES inferred ¹⁵
48	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.69	DISEASES inferred ¹⁵
49	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	6.67	DISEASES inferred ¹⁵
50	MTNR1B	Melatonin Receptor 1B	Protein Coding	6.58	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 ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.98	MMP3 MMP13 GDF5 FBN1 COL2A1 BMP2
2	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.72	ADAMTS5 ADAMTS4 ADAMTS3 ACAN
3	TGF-beta signaling pathway (KEGG) ³⁶	11.58	GDF5 FBN1 BMP2
4	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	11.46	ADAMTS5 ADAMTS4 ADAMTS3
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁴	11.43	GDF5 COL2A1 BMP2 ACAN
6	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.41	GDF5 FBN1 BMP2
7	Cell adhesion_ECM remodeling ²²	11.28	MMP3 MMP13 COL2A1
8	Endochondral Ossification ¹	11.17	MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
9	G-protein signaling_Rap2B regulation pathway ²²	10.76	GDF5 FBN1 COL2A1 BMP2 ACAN

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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	10	MMP3 MMP13 GDF5 FTH1 FBN1 COL2A1
2	extracellular space	GO:0005615	9.7	MMP3 MMP13 MIR486-1 MIR27A GDF5 FBN1
3	collagen-containing extracellular matrix	GO:0062023	9.63	FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
4	basement membrane	GO:0005604	9.5	FBN1 COL2A1 ACAN
5	extracellular matrix	GO:0031012	9.23	MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.88	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
2	heart development	GO:0007507	9.76	NF1 FBN1 BMP2 ACAN
3	cartilage development	GO:0051216	9.62	MMP13 GDF5 COL2A1 BMP2
4	extracellular matrix disassembly	GO:0022617	9.56	MMP3 MMP13 ADAMTS5 ADAMTS4
5	skeletal system development	GO:0001501	9.55	FBN1 COL2A1 BMP2 ADAMTS4 ACAN
6	collagen catabolic process	GO:0030574	9.54	MMP3 MMP13 ADAMTS3
7	response to amyloid-beta	GO:1904645	9.48	MMP3 MMP13
8	proteoglycan metabolic process	GO:0006029	9.43	COL2A1 BMP2
9	extracellular matrix organization	GO:0030198	9.28	NF1 MMP3 MMP13 FBN1 COL2A1 ADAMTS5
10	collagen fibril organization	GO:0030199	9.26	NF1 COL2A1 ADAMTS3 ACAN

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	9.55	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2	endopeptidase activity	GO:0004175	9.43	MMP3 MMP13 ADAMTS3
3	metallopeptidase activity	GO:0008237	9.35	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
4	metalloendopeptidase activity	GO:0004222	9.02	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3

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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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia