MCID: BND014
MIFTS: 40

Bone Development Disease malady

Categories: Bone diseases

Aliases & Classifications for Bone Development Disease

Aliases & Descriptions for Bone Development Disease:

Name: Bone Development Disease 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0080006

Summaries for Bone Development Disease

Disease Ontology : 12 A bone disease that results_in abnormal growth and development located in bone or located in cartilage.

MalaCards based summary : Bone Development Disease is related to clubfoot and dysostosis. An important gene associated with Bone Development Disease is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. The drugs Fenofibrate and Cimetidine have been mentioned in the context of this disorder. Affiliated tissues include bone and bone or, and related phenotypes are growth/size/body region and limbs/digits/tail

Related Diseases for Bone Development Disease

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

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 clubfoot 10.5
2 dysostosis 10.5
3 osteochondrodysplasia 10.5
4 cngb3-related stargardt disease 1 10.4 COL1A1 COL1A2
5 isolated lissencephaly type 1 without known genetic defects 10.4 COL1A1 COL1A2
6 charcot-marie-tooth neuropathy type 2a 10.4 COL1A1 COL1A2
7 prph2-related retinitis pigmentosa 10.4 COL1A1 COL1A2
8 20p13 microdeletion syndrome 10.3 COL1A1 COL1A2
9 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.3 FGFR1 FGFR2
10 human herpesvirus 8 10.3 COL1A1 COL1A2 CRTAP
11 muenke syndrome 10.3 COMP FGFR2 FGFR3
12 phyh-related refsum disease 10.3 COL1A1 COL1A2
13 pitx3-related anterior segment mesenchymal dysgenesis 10.3 FGFR1 FGFR2
14 mental retardation, autosomal recessive 35 10.3 COL1A1 COL1A2 FGFR3
15 splenic flexure cancer 10.3 COL1A1 COL1A2 SLC26A2
16 familial porphyria cutanea tarda 10.3 FGFR1 FGFR2 FGFR3
17 hartsfield syndrome 10.3 FGFR1 FGFR2 FGFR3
18 pointer syndrome 10.3 FGFR1 FGFR2 FGFR3
19 achondrogenesis ib 10.3 COL2A1 COMP SLC26A2
20 osteoglophonic dysplasia 10.3 FGFR1 FGFR2 FGFR3
21 leukotriene c4 synthase deficiency 10.3 MSX2 RUNX2
22 epileptic encephalopathy, early infantile, 36 10.3 COL1A1 COL1A2
23 crouzon syndrome with acanthosis nigricans 10.3 FGFR1 FGFR2 FGFR3
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.3 COL1A1 COL1A2 IFITM5
25 long qt syndrome 1 10.3 COL1A1 COL1A2 IFITM5
26 inflammatory bowel disease 22 10.3 CRTAP FKBP10
27 cervical cancer, somatic 10.3 FGFR1 FGFR2 FGFR3
28 porphyria cutanea tarda 10.3 COL1A1 COL1A2 CRTAP P3H1
29 herpes simplex 10.3 COL1A1 COL1A2 COL2A1
30 trichohepatoenteric syndrome 2 10.2 MSX2 RUNX2 SOX9
31 combined oxidative phosphorylation deficiency 2 10.2 COL2A1 FGFR3 SLC26A2 SMARCAL1
32 saddan 10.2 FGFR1 FGFR2 FGFR3
33 acromesomelic dysplasia 10.2 COL2A1 COL9A2 SLC26A2
34 pilocytic astrocytoma of cerebellum 10.2 COL1A1 COL2A1
35 osteogenesis imperfecta, type ii 10.2 COL1A1 COL1A2 CRTAP FKBP10
36 thanatophoric dysplasia, type i 10.2 FGFR1 FGFR2 FGFR3 SOX9
37 dressler's syndrome 10.2 GLI3 MSX2 RUNX2
38 sp7-related osteogenesis imperfecta 10.2 COL2A1 COMP FGFR2 FGFR3 SLC26A2
39 apert syndrome 10.2 FGFR1 FGFR2 FGFR3 MSX2
40 telfer sugar jaeger syndrome 10.2 GLI3 HOXD13
41 cutaneous leishmaniasis 10.2 FGFR1 FGFR2 FGFR3 MSX2
42 vulvovaginitis 10.2 COL1A1 COL2A1 FGFR3 SLC26A2 SOX9
43 aica-ribosiduria due to atic deficiency 10.2 FGFR2 FGFR3 GLI3 HOXD13
44 factor xiiia deficiency 10.2 COL1A1 COL1A2
45 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.2 COL2A1 FGFR1 FGFR2 SOX9
46 vitelliform macular dystrophy 10.2 COL9A2 COMP FGFR3 SLC26A2
47 hypoparathyroidism 10.2 FGFR2 FGFR3 GLI3 HOXD13
48 myopia, x-linked 10.2 COL9A2 COMP MATN3
49 hypogonadotropic hypogonadism 2 with or without anosmia 10.2 COL1A1 FGFR1 FGFR2 FGFR3 RUNX2
50 autosomal genetic disease 10.2 FGFR2 FGFR3 MSX2

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



Diseases related to Bone Development Disease

Symptoms & Phenotypes for Bone Development Disease

MGI Mouse Phenotypes related to Bone Development Disease:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.51 COL2A1 COMP CRTAP FGFR1 FGFR2 FGFR3
2 limbs/digits/tail MP:0005371 10.45 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR1
3 craniofacial MP:0005382 10.36 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 FKBP10
4 behavior/neurological MP:0005386 10.35 FGFR1 FGFR2 FGFR3 MSX2 P3H1 SOX9
5 homeostasis/metabolism MP:0005376 10.35 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR1
6 mortality/aging MP:0010768 10.35 GLI3 HOXD13 IFITM5 MSX2 RUNX2 SLC26A2
7 cardiovascular system MP:0005385 10.34 FKBP10 GLI3 MSX2 RUNX2 SOX9 COL1A1
8 cellular MP:0005384 10.33 FGFR1 FGFR2 FGFR3 FKBP10 GLI3 RUNX2
9 digestive/alimentary MP:0005381 10.27 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 GLI3
10 immune system MP:0005387 10.26 COL1A1 COL2A1 COMP FGFR1 FGFR2 FGFR3
11 hearing/vestibular/ear MP:0005377 10.25 COL2A1 COL9A2 FGFR1 FGFR2 FGFR3 GLI3
12 integument MP:0010771 10.25 SOX9 COL1A1 COL1A2 FGFR1 FGFR2 FGFR3
13 embryo MP:0005380 10.22 COL1A1 COL2A1 FGFR1 FGFR2 FKBP10 GLI3
14 nervous system MP:0003631 10.17 COL1A1 COL2A1 COL9A2 FGFR1 FGFR2 FGFR3
15 muscle MP:0005369 10.16 COL1A1 COL1A2 COMP FGFR1 FGFR2 HOXD13
16 adipose tissue MP:0005375 10.09 COL1A1 COL1A2 COL2A1 FGFR2 P3H1 SOX9
17 normal MP:0002873 10.07 COMP FGFR1 FGFR2 FGFR3 GLI3 MSX2
18 no phenotypic analysis MP:0003012 10.06 COL1A1 FGFR1 FGFR2 FGFR3 GLI3 HOXD13
19 renal/urinary system MP:0005367 9.97 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 GLI3
20 skeleton MP:0005390 9.96 HOXD13 IFITM5 MATN3 MSX2 P3H1 RUNX2
21 reproductive system MP:0005389 9.91 COL1A1 FGFR1 FGFR2 FGFR3 GLI3 HOXD13
22 respiratory system MP:0005388 9.7 COL1A1 COL2A1 FGFR2 FGFR3 GLI3 RUNX2
23 vision/eye MP:0005391 9.32 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 GLI3

Drugs & Therapeutics for Bone Development Disease

Drugs for Bone Development Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 817)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4 49562-28-9 3339
2
Cimetidine Approved Phase 4,Phase 2 51481-61-9 2756
3
Methyclothiazide Approved Phase 4 135-07-9 4121
4
Adalimumab Approved Phase 4,Phase 3,Phase 2 331731-18-1 16219006
5
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 185243-69-0
6
Infliximab Approved Phase 4,Phase 3,Phase 2 170277-31-3
7
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
8
Desflurane Approved Phase 4 57041-67-5 42113
9
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
10
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
11
Calcium carbonate Approved Phase 4,Phase 3,Phase 2,Phase 1 471-34-1
12
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
13
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
14
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 135968-09-1
15
Thiotepa Approved Phase 4,Phase 3,Phase 2,Phase 1 52-24-4 5453
16
Zoledronic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 118072-93-8 68740
17
Zidovudine Approved Phase 4,Phase 2,Phase 1 30516-87-1 35370
18
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Phase 1 13422-51-0 11953898 5460373 44475014
19
Zinc Approved Phase 4,Phase 2,Phase 3,Early Phase 1 7440-66-6 32051 23994
20
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
22
Tamoxifen Approved Phase 4,Phase 3,Phase 2,Phase 1 10540-29-1 2733526
23
Acetaminophen Approved Phase 4,Phase 1 103-90-2 1983
24
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
25
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
27
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
28
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
29
Drospirenone Approved Phase 4 67392-87-4 68873
30
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-28-2 5757 53477783
31
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1 57-63-6 5991
32
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
33
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
34
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
35
Alendronate Approved Phase 4,Phase 3,Phase 2 121268-17-5, 66376-36-1 2088
36
Pioglitazone Approved, Investigational Phase 4,Phase 1,Phase 2 111025-46-8 4829
37
Calcium acetate Approved Phase 4 62-54-4
38
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
39
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
40
Amlodipine Approved Phase 4 88150-42-9 2162
41
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
42
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
43
Copper Approved Phase 4,Phase 3 15158-11-9, 7440-50-8 27099
44
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
45
Selenium Approved, Vet_approved Phase 4,Phase 3 7782-49-2
46
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
47
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
48
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
49
Ropivacaine Approved Phase 4,Phase 2 84057-95-4 71273 175805
50
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807

Interventional clinical trials:

(show top 50) (show all 1766)
id Name Status NCT ID Phase
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
2 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
3 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
4 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
5 Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients Unknown status NCT01101698 Phase 4
6 Effects of Fenofibrate on Endothelial Progenitor Cells in Diabetes Unknown status NCT01927315 Phase 4
7 Bone Forming at Prosthetic Surfaces. Fingerprint2 Unknown status NCT01623687 Phase 4
8 Clinical Trial Technology Development for the Validation of Surrogate Prognostic Markers in Patients With Diabetic Nephropathy Unknown status NCT01673204 Phase 4
9 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Unknown status NCT00840944 Phase 4
10 A Randomised Single Centre Study to Compare the Long-Term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Unknown status NCT00208442 Phase 4
11 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4
12 Pulmonary Mechanics During Minimally Invasive Repair of Pectus Excavatum Unknown status NCT01486953 Phase 4
13 Effect of Hormone Replacement Therapy on Lupus Activity Completed NCT00392093 Phase 4
14 Insulin Resistance, Polycystic Ovary Syndrome, and Bone Research Study Completed NCT00640224 Phase 4
15 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4
16 Teriparatide for Joint Erosions in Rheumatoid Arthritis: The TERA Trial Completed NCT01400516 Phase 4
17 Effect of Phosphate Binders on FGF-23 With Concurrent Calcitriol Completed NCT01748396 Phase 4
18 Coronally Advanced Flap and PRF With or Without Demineralized Freeze-dried Bone Allograft in Gingival Recession Completed NCT02835430 Phase 4
19 Study of Effects of Tenofovir on Bone Health and Kidneys During Pregnancy and Breastfeeding Completed NCT01066858 Phase 4
20 Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation. Completed NCT00184769 Phase 4
21 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4
22 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
23 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4
24 A Study to Assess the Long-term Performance of SmartSet® HV and SmartSet® GHV Bone Cements in Primary Total Hip Replacement Completed NCT00872066 Phase 4
25 Prevalence of Non-alcoholic Fatty Liver Disease (NAFLD) in Hispanics With Diabetes Mellitus Type 2 (T2DM) and Role of Treatment Completed NCT01002547 Phase 4
26 The Influence of Dimensional Anatomic Variables on the Outcomes of Maxillary Sinus Grafting Procedures Completed NCT00868777 Phase 4
27 Teriparatide (Forsteo) Treatment in Postmenopausal Women: Mechanism of Action Completed NCT01293292 Phase 4
28 Sevelamer, FGF-23 and Endothelial Dysfunction in Chronic Kidney Disease (CKD) Completed NCT01135615 Phase 4
29 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4
30 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4
31 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
32 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
33 Non-small Cell Lung Cancer Registry Completed NCT00099541 Phase 4
34 Efficacy and Safety of Switching From Retrovir to Tenofovir or Abacavir in HIV-infected Patients Completed NCT00647244 Phase 4
35 OlmeSartan and Calcium Antagonists Randomized (OSCAR) Study Completed NCT00134160 Phase 4
36 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4
37 Effects of Teriparatide or Zoledronic Acid Treatment on Bone in Postmenopausal Osteoporotic Women Completed NCT00927186 Phase 4
38 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
39 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
40 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
41 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
42 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
43 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4
44 Growth Hormone Treatment of Children Diagnosed of Intrauterine Growth Retardation Completed NCT01697644 Phase 4
45 Opioid-induced Hyperalgesia After Remifentanil Infusion Completed NCT01702389 Phase 4
46 Strategies of Interruption/Reinitiation of Antiretroviral Therapy in HIV-Infected Patients With Lipodystrophy Completed NCT00646984 Phase 4
47 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4
48 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
49 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4
50 Scoliosis Surgery Using the PASS® LP System Completed NCT01019109 Phase 4

Search NIH Clinical Center for Bone Development Disease

Genetic Tests for Bone Development Disease

Anatomical Context for Bone Development Disease

MalaCards organs/tissues related to Bone Development Disease:

39
Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Bone Development Disease:

18
Bone Or

Publications for Bone Development Disease

Variations for Bone Development Disease

Expression for Bone Development Disease

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

Pathways for Bone Development Disease

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

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 COL1A1 COL1A2 COL2A1 COL9A2 FGFR1 FGFR2
2
Show member pathways
12.63 COL1A1 COL1A2 COL2A1 COL9A2 CRTAP P3H1
3
Show member pathways
12.51 COL1A1 COL1A2 COL2A1 COL9A2 COMP CRTAP
4 12.09 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR1
5
Show member pathways
12.06 COL1A1 FGFR1 FGFR2 FGFR3
6
Show member pathways
11.9 COL1A1 COL1A2 COL2A1 COL9A2 COMP
7 11.68 FGFR1 FGFR2 FGFR3
8 11.65 COL2A1 MSX2 RUNX2 SOX9
9 11.64 FGFR1 FGFR3 SOX9
10 11.64 COL2A1 FGFR1 FGFR2 FGFR3 MSX2 SOX9
11 11.54 FGFR1 FGFR2 FGFR3
12 11.5 COL1A1 COL1A2 COL2A1
13 11.46 COL9A2 COMP MATN3
14 11.34 FGFR1 FGFR2 RUNX2
15 11.31 FGFR1 FGFR2 FGFR3
16 11.22 COL1A1 COL1A2 RUNX2
17 10.91 COL2A1 FGFR1 FGFR3 GLI3 RUNX2 SOX9

GO Terms for Bone Development Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.77 COL1A1 COL1A2 COL2A1 COMP FGFR2
2 proteinaceous extracellular matrix GO:0005578 9.56 COL1A1 COL1A2 COL2A1 COL9A2 COMP CRTAP
3 collagen trimer GO:0005581 9.46 COL1A1 COL1A2 COL2A1 COL9A2
4 macromolecular complex GO:0032991 9.32 CRTAP P3H1
5 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
6 endoplasmic reticulum lumen GO:0005788 9.23 COL1A1 COL1A2 COL2A1 COL9A2 CRTAP FKBP10
7 extracellular region GO:0005576 10.1 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR1

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

(show top 50) (show all 62)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.99 FGFR1 FGFR2 GLI3 IFITM5
2 osteoblast differentiation GO:0001649 9.91 COL1A1 MSX2 RUNX2
3 phosphatidylinositol phosphorylation GO:0046854 9.9 FGFR1 FGFR2 FGFR3
4 lung development GO:0030324 9.9 FGFR1 FGFR2 GLI3
5 anterior/posterior pattern specification GO:0009952 9.9 GLI3 HOXD13 MSX2
6 positive regulation of MAPK cascade GO:0043410 9.9 FGFR1 FGFR2 FGFR3
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.89 FGFR1 FGFR2 FGFR3
8 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.89 FGFR1 FGFR2 FGFR3
9 cartilage development GO:0051216 9.88 COL2A1 MSX2 SOX9
10 cellular response to retinoic acid GO:0071300 9.87 COL1A1 FGFR2 SOX9
11 inner ear morphogenesis GO:0042472 9.86 COL2A1 FGFR1 FGFR2
12 collagen catabolic process GO:0030574 9.86 COL1A1 COL1A2 COL2A1
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 COL1A1 FGFR2 SOX9
14 embryonic digit morphogenesis GO:0042733 9.85 GLI3 HOXD13 MSX2
15 wound healing GO:0042060 9.85 COL1A1 FGFR2 GLI3 MSX2
16 positive regulation of osteoblast differentiation GO:0045669 9.83 GLI3 MSX2 RUNX2
17 bone development GO:0060348 9.83 COL2A1 FGFR2 P3H1
18 chaperone-mediated protein folding GO:0061077 9.81 CRTAP FKBP10 P3H1
19 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.81 FGFR1 FGFR2 FGFR3
20 embryonic limb morphogenesis GO:0030326 9.81 FGFR1 GLI3 HOXD13 MSX2
21 extracellular matrix organization GO:0030198 9.8 COL1A1 COL1A2 COL2A1 COL9A2 COMP MATN3
22 collagen fibril organization GO:0030199 9.79 COL1A1 COL1A2 COL2A1
23 bone mineralization GO:0030282 9.78 FGFR2 FGFR3 IFITM5
24 regulation of cell differentiation GO:0045595 9.78 FGFR1 GLI3 RUNX2 SOX9
25 odontogenesis GO:0042476 9.77 COL1A2 FGFR2 MSX2
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 FGFR1 FGFR2 SOX9
27 limb morphogenesis GO:0035108 9.73 COL2A1 GLI3 HOXD13
28 regulation of osteoblast differentiation GO:0045667 9.72 FGFR2 RUNX2
29 protein heterotrimerization GO:0070208 9.72 COL1A1 COL1A2
30 branching involved in salivary gland morphogenesis GO:0060445 9.72 FGFR1 FGFR2
31 skeletal system morphogenesis GO:0048705 9.72 COL1A1 COL2A1 FGFR1 FGFR2 RUNX2
32 notochord development GO:0030903 9.71 COL2A1 SOX9
33 positive regulation of chondrocyte differentiation GO:0032332 9.71 GLI3 RUNX2 SOX9
34 bone morphogenesis GO:0060349 9.71 FGFR2 FGFR3 IFITM5 MSX2
35 lung-associated mesenchyme development GO:0060484 9.7 FGFR1 FGFR2
36 mesenchymal cell differentiation GO:0048762 9.7 FGFR1 FGFR2
37 gland morphogenesis GO:0022612 9.7 FGFR2 HOXD13
38 chondrocyte development GO:0002063 9.7 MSX2 RUNX2 SOX9
39 skin morphogenesis GO:0043589 9.69 COL1A1 COL1A2
40 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.68 FGFR2 RUNX2
41 bone trabecula formation GO:0060346 9.68 COL1A1 MSX2
42 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.67 FGFR2 HOXD13
43 otic vesicle development GO:0071599 9.67 COL2A1 SOX9
44 limb bud formation GO:0060174 9.67 COL2A1 FGFR2 SOX9
45 endochondral ossification GO:0001958 9.67 COL1A1 COL2A1 FGFR3 RUNX2
46 lacrimal gland development GO:0032808 9.66 FGFR2 SOX9
47 otic vesicle formation GO:0030916 9.66 FGFR2 SOX9
48 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.65 FGFR2 HOXD13
49 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.64 COL1A1 COL2A1
50 prostate gland morphogenesis GO:0060512 9.63 FGFR2 SOX9

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

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.76 GLI3 HOXD13 RUNX2 SOX9
2 protease binding GO:0002020 9.65 COL1A1 COL1A2 COMP
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.61 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.5 FGFR1 FGFR2 FGFR3
6 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
7 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.37 COL2A1 COL9A2
8 platelet-derived growth factor binding GO:0048407 9.33 COL1A1 COL1A2 COL2A1
9 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR1 FGFR2 FGFR3
10 extracellular matrix structural constituent GO:0005201 9.02 COL1A1 COL1A2 COL2A1 COMP MATN3

Sources for Bone Development Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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