MCID: BND014
MIFTS: 39

Bone Development Disease

Categories: Bone diseases

Aliases & Classifications for Bone Development Disease

MalaCards integrated aliases 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 congenital erosive and vesicular dermatosis and cln12 disease. An important gene associated with Bone Development Disease is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. The drugs Fenofibrate and Cimetidine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are growth/size/body region and cardiovascular system

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 64)
id Related Disease Score Top Affiliating Genes
1 congenital erosive and vesicular dermatosis 10.9 COL1A1 COL1A2
2 cln12 disease 10.9 COL1A1 COL1A2
3 carbonic anhydrase va deficiency 10.9 COL1A1 COL1A2
4 prpf3-related retinitis pigmentosa 10.9 COL1A1 COL1A2
5 pens syndrome 10.9 COL1A1 COL1A2
6 pfn1-related amyotrophic lateral sclerosis 10.9 COL1A1 COL1A2
7 plasmalogens synthesis deficiency isolated 10.8 FGFR2 FGFR3
8 epilepsy with neurodevelopmental defects 10.8 COL1A1 COL1A2
9 deafness, autosomal recessive 91 10.8 COL1A1 COL1A2
10 autism susceptibility, x-linked 2 10.7 FGFR3 SHOX SHOX2
11 osteogenesis imperfecta, type iv 10.7 COL1A1 COL1A2
12 crouzon syndrome with acanthosis nigricans 10.7 COMP FGFR2 FGFR3
13 thanatophoric dysplasia, type i 10.7 FGFR2 FGFR3 SHOX
14 splenic flexure cancer 10.7 COL1A1 COL1A2 SLC26A2
15 caffey disease 10.7 COL1A1 COL1A2 FGFR3
16 human herpesvirus 8 10.7 COL1A1 COL1A2 CRTAP
17 atrioventricular septal defect 10.7 COMP FGFR3 SLC26A2
18 night blindness, congenital stationary , 1b, autosomal recessive 10.7 MSX2 RUNX2
19 shwachman-diamond type metaphyseal dysplasia 10.7 PIK3R2 RNU4ATAC SHOX2
20 cerebellar astrocytoma 10.7 COL1A1 COL2A1
21 chronic fatigue syndrome 10.7 COL1A1 COL1A2 COL2A1
22 trigonocephaly 1 10.6 FGFR2 FGFR3
23 atelosteogenesis ii 10.6 COL2A1 COMP SLC26A2
24 beare-stevenson cutis gyrata syndrome 10.6 FGFR2 FGFR3 MSX2
25 bruck syndrome 1 10.6 CRTAP FKBP10
26 jackson-weiss syndrome 10.6 COL1A1 FGFR2 FGFR3 RUNX2
27 pontocerebellar hypoplasia, type 2e 10.6 COL1A1 COL1A2 IFITM5
28 sclerosteosis 10.6 COL1A1 COL1A2 COL2A1 FGFR3
29 immunodeficiency 39 10.6 COL1A1 COL1A2 IFITM5
30 leber congenital amaurosis 3 10.5 COL2A1 SLC26A2
31 apert syndrome 10.5 FGFR2 FGFR3
32 paget's disease of bone 10.5 COL2A1 FGFR2 FGFR3
33 osteopoikilosis 10.5 FGFR2 FGFR3 MSX2
34 intermediate uveitis 10.5 COL2A1 COMP SLC26A2
35 simosa craniofacial syndrome 10.5 FGFR2 FGFR3 HOXD13 PIK3R2
36 y-linked disease 10.5 FGFR2 FGFR3 MSX2
37 spondylocarpotarsal synostosis syndrome 10.5
38 fuhrmann syndrome 10.5
39 split hand-foot malformation 10.5
40 clubfoot 10.5
41 dysostosis 10.5
42 osteochondrodysplasia 10.5
43 osteogenesis imperfecta, type viii 10.5 COL1A1 COL1A2 CRTAP P3H1
44 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 10.5 MSX2 RUNX2 SOX9
45 myopathy with extrapyramidal signs 10.4 COL2A1 FGFR3 SLC26A2 SMARCAL1
46 crohn's disease 10.4 FGFR2 FGFR3 MSX2 RUNX2
47 gonococcal keratitis 10.4 CRTAP P3H1
48 osteogenesis imperfecta, type iii 10.4 COL1A1 COL1A2 CRTAP FKBP10
49 congenital generalized lipodystrophy 10.3 COL2A1 HOXD13 RUNX2
50 syringobulbia 10.3 COL1A1 COL2A1 FGFR3 RUNX2 SOX9

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 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 SOX9 COL1A1 COL1A2 COL2A1 COMP CRTAP
2 cardiovascular system MP:0005385 10.28 COL1A1 COL1A2 COL2A1 COMP FGFR2 FKBP10
3 limbs/digits/tail MP:0005371 10.28 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
4 craniofacial MP:0005382 10.26 RUNX2 SHOX2 SLC26A2 SOX9 COL1A1 COL2A1
5 homeostasis/metabolism MP:0005376 10.23 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
6 mortality/aging MP:0010768 10.21 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 FKBP10
7 digestive/alimentary MP:0005381 10.16 RUNX2 SHOX2 SOX9 COL1A1 COL2A1 FGFR2
8 integument MP:0010771 10.09 COL1A2 FGFR2 FGFR3 HOXD13 MSX2 P3H1
9 adipose tissue MP:0005375 10.02 COL1A1 COL1A2 COL2A1 FGFR2 P3H1 SOX9
10 hearing/vestibular/ear MP:0005377 10.02 COL2A1 FGFR2 FGFR3 MSX2 P3H1 SOX9
11 muscle MP:0005369 10.02 COL1A1 COL1A2 COMP FGFR2 HOXD13 MSX2
12 skeleton MP:0005390 9.89 CRTAP FGFR2 FGFR3 FKBP10 HOXD13 IFITM5
13 no phenotypic analysis MP:0003012 9.8 COL1A1 FGFR2 FGFR3 HOXD13 RUNX2 SMARCAL1
14 renal/urinary system MP:0005367 9.7 HOXD13 SMARCAL1 SOX9 COL1A1 COL2A1 FGFR2
15 vision/eye MP:0005391 9.23 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 MSX2

Drugs & Therapeutics for Bone Development Disease

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

(show top 50) (show all 617)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4 49562-28-9 3339
2
Cimetidine Approved Phase 4 51481-61-9 2756
3
Calcium Carbonate Approved Phase 4,Phase 3,Phase 2 471-34-1
4
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
5
Lenograstim Approved Phase 4,Phase 3,Phase 2,Early Phase 1 135968-09-1
6 Thiotepa Approved Phase 4,Phase 3,Phase 2,Phase 1 52-24-4 5453
7
Zoledronic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 118072-93-8 68740
8
Zidovudine Approved Phase 4,Phase 2,Phase 1 30516-87-1 35370
9
Drospirenone Approved Phase 4 67392-87-4 68873
10
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 50-28-2 5757
11
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3 57-63-6 5991
12
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
13
Pamidronate Approved Phase 4,Phase 3,Phase 2 40391-99-9 4674
14
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
15
Etanercept Approved, Investigational Phase 4 185243-69-0
16
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
17
Alendronate Approved Phase 4,Phase 3,Phase 2 121268-17-5, 66376-36-1 2088
18
Pioglitazone Approved, Investigational Phase 4,Phase 1,Phase 2 111025-46-8 4829
19
Calcium acetate Approved Phase 4 62-54-4
20
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
21
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
22
Amlodipine Approved Phase 4 88150-42-9 2162
23
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
24
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
25
Infliximab Approved Phase 4,Phase 3,Phase 2 170277-31-3
26
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
27
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
28
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
29
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
30
Ethanol Approved Phase 4,Phase 1,Phase 2 64-17-5 702
31
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
32
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
33
Desogestrel Approved Phase 4 54024-22-5 40973
34
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
35
Norelgestromin Approved Phase 4 53016-31-2 13752005
36
Azathioprine Approved Phase 4 446-86-6 2265
37
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-14-6 5280793
38
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1406-16-2
39
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 67-97-0 6221 10883523 5280795
40
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
41
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
42
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 32222-06-3 134070 5280453
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
44 Tocopherol Approved, Nutraceutical Phase 4,Phase 2
45
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-02-9 14985
46 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
47
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2 59-67-6 938
48
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2 98-92-0 936
49
Angiotensin II Investigational Phase 4,Phase 1,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
50 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 899)

id Name Status NCT ID Phase Drugs
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
2 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
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 Vitamin K2+10μg cholecalciferol;Vitamin D
6 Effects of Fenofibrate on Endothelial Progenitor Cells in Diabetes Unknown status NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
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 Calcitriol;Placebo
9 Effect of Hormone Replacement Therapy on Lupus Activity Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
10 Insulin Resistance, Polycystic Ovary Syndrome, and Bone Research Study Completed NCT00640224 Phase 4 rosiglitazone;drospirenone/ethinyl estradiol
11 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4 pamidronate
12 Teriparatide for Joint Erosions in Rheumatoid Arthritis: The TERA Trial Completed NCT01400516 Phase 4 Teriparatide;calcium citrate;Vitamin D;TNF antagonist
13 Effect of Phosphate Binders on FGF-23 With Concurrent Calcitriol Completed NCT01748396 Phase 4 Calcitriol;Calcium Carbonate
14 Coronally Advanced Flap and PRF With or Without Demineralized Freeze-dried Bone Allograft in Gingival Recession Completed NCT02835430 Phase 4
15 Study of Effects of Tenofovir on Bone Health and Kidneys During Pregnancy and Breastfeeding Completed NCT01066858 Phase 4 Tenofovir disoproxil fumarate (TDF)
16 Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation. Completed NCT00184769 Phase 4 somatropin
17 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
18 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
19 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
20 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
21 Prevalence of Non-alcoholic Fatty Liver Disease (NAFLD) in Hispanics With Diabetes Mellitus Type 2 (T2DM) and Role of Treatment Completed NCT01002547 Phase 4 pioglitazone-placebo;pioglitazone;pioglitazone-placebo;Vitamin E-placebo
22 The Influence of Dimensional Anatomic Variables on the Outcomes of Maxillary Sinus Grafting Procedures Completed NCT00868777 Phase 4
23 Teriparatide (Forsteo) Treatment in Postmenopausal Women: Mechanism of Action Completed NCT01293292 Phase 4 Teriparatide
24 Sevelamer, FGF-23 and Endothelial Dysfunction in Chronic Kidney Disease (CKD) Completed NCT01135615 Phase 4 Sevelamer;calcium acetate
25 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
26 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
27 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
28 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
29 Non-small Cell Lung Cancer Registry Completed NCT00099541 Phase 4 zoledronic acid
30 Efficacy and Safety of Switching From Retrovir to Tenofovir or Abacavir in HIV-infected Patients Completed NCT00647244 Phase 4 Tenofovir disoproxil fumarate;Abacavir
31 OlmeSartan and Calcium Antagonists Randomized (OSCAR) Study Completed NCT00134160 Phase 4 Olmesartan medoxomil;Calcium channel blockers (amlodipine, azelnidipine)
32 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
33 Effects of Teriparatide or Zoledronic Acid Treatment on Bone in Postmenopausal Osteoporotic Women Completed NCT00927186 Phase 4 Teriparatide;Zoledronic Acid
34 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
35 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4 Velaglucerase alfa
36 Analysis of Bone Marrow and Blood B Cell Immune Responses to Influenza Vaccination Recruiting NCT02485639 Phase 4
37 Transitional Growth Hormone (GH) Use in Growth Hormone Deficient (GHD) Cancer Survivors Recruiting NCT02629926 Phase 4
38 Effectiveness of Bazedoxifene for Prevention of Glucocorticoid-induced Bone Loss in RA Patients Recruiting NCT02602704 Phase 4 Bazedoxifene;Calcium/Vit D
39 Enamel Matrix Proteins in the Treatment of Intrabony Defects in Patients With Aggressive and Chronic Periodontitis Recruiting NCT03025204 Phase 4
40 Effects of Preoperative Oral Carbohydrates Loading in Patients at High Risk of Postoperative Nausea and Vomiting Undergoing Spinal Surgery Recruiting NCT02809950 Phase 4
41 Can Vitamin D Supplementation in Infants Prevent Food Allergy in the First Year of Life? The VITALITY Trial Recruiting NCT02112734 Phase 4 Vitamin D;placebo
42 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
43 Assessing the Impact of Contraceptives on Bone Health Using 41Ca Active, not recruiting NCT02367846 Phase 4 Combined Oral Contraceptive (COC);Contraceptive Vaginal Ring (CVR)
44 Effects of Oral vs. Non-oral Contraceptives on the GH/IGF-1 Axis Active, not recruiting NCT02367833 Phase 4 Combined Oral Contraceptive;Transdermal Contraceptive;Contraceptive Vaginal Ring
45 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
46 Top-down Infliximab Study in Kids With Crohn's Disease Enrolling by invitation NCT02517684 Phase 4 Infliximab;Prednisolone;Azathioprine
47 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
48 Correcting Anemia and Native Vitamin D Supplementation in Kidney Transplant Recipients Enrolling by invitation NCT01817699 Phase 4
49 The Efficacy of Niacin on Hyperphosphatemia in Patients Undergoing Haemodialysis Not yet recruiting NCT03163576 Phase 4 Niacin;Phosphate Binder
50 A Study of Zoledronic Acid in the Prevention of Cancer Therapy-induced Bone Loss Terminated NCT00333229 Phase 4 Zoledronic Acid;Placebo

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, Bone Marrow, Myeloid, Prostate, Kidney, Breast, Lung

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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2
2
Show member pathways
12.7 COL1A1 COL1A2 COL2A1 COMP PIK3R2
3
Show member pathways
12.61 COL1A1 COL1A2 COL2A1 CRTAP P3H1
4
Show member pathways
12.45 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
5 12.23 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
6
Show member pathways
11.88 COL1A1 COL1A2 COL2A1 COMP
7 11.7 COL1A1 COL1A2 PIK3R2
8 11.67 COL1A1 COL1A2 PIK3R2
9 11.54 COL2A1 MSX2 RUNX2 SOX9
10 11.45 FGFR2 FGFR3 PIK3R2
11 11.39 COL1A1 COL1A2 COL2A1
12 11.14 COL1A1 COL1A2 RUNX2
13 11.07 COL2A1 FGFR3 RUNX2 SOX9
14 11.03 COL2A1 FGFR2 FGFR3 MSX2 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 9.65 COL1A1 COL1A2 COL2A1 COMP FGFR2
2 collagen trimer GO:0005581 9.54 COL1A1 COL1A2 COL2A1
3 proteinaceous extracellular matrix GO:0005578 9.43 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
4 macromolecular complex GO:0032991 9.32 CRTAP P3H1
5 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2
6 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 COL2A1 CRTAP FKBP10 P3H1

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

(show all 49)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.89 COL1A1 COL1A2 COL2A1 COMP SOX9
2 phosphatidylinositol phosphorylation GO:0046854 9.87 FGFR2 FGFR3 PIK3R2
3 wound healing GO:0042060 9.87 COL1A1 FGFR2 MSX2
4 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.86 FGFR2 FGFR3 PIK3R2
5 cartilage development GO:0051216 9.86 COL2A1 MSX2 SOX9
6 cellular response to retinoic acid GO:0071300 9.85 COL1A1 FGFR2 SOX9
7 collagen catabolic process GO:0030574 9.84 COL1A1 COL1A2 COL2A1
8 osteoblast differentiation GO:0001649 9.83 COL1A1 MSX2 RUNX2 SHOX2
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.82 COL1A1 FGFR2 SOX9
10 embryonic limb morphogenesis GO:0030326 9.8 HOXD13 MSX2 SHOX2
11 bone development GO:0060348 9.79 COL2A1 FGFR2 P3H1
12 chaperone-mediated protein folding GO:0061077 9.77 CRTAP FKBP10 P3H1
13 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.77 FGFR2 FGFR3 PIK3R2
14 skeletal system morphogenesis GO:0048705 9.76 COL1A1 COL2A1 FGFR2 RUNX2
15 collagen fibril organization GO:0030199 9.75 COL1A1 COL1A2 COL2A1
16 bone mineralization GO:0030282 9.74 FGFR2 FGFR3 IFITM5
17 odontogenesis GO:0042476 9.73 COL1A2 FGFR2 MSX2
18 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 SHOX2
19 positive regulation of chondrocyte differentiation GO:0032332 9.71 RUNX2 SOX9
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 FGFR2 SHOX2 SOX9
21 osteoblast development GO:0002076 9.7 MSX2 RUNX2
22 regulation of osteoblast differentiation GO:0045667 9.69 FGFR2 RUNX2
23 protein heterotrimerization GO:0070208 9.69 COL1A1 COL1A2
24 embryonic skeletal joint morphogenesis GO:0060272 9.68 COL2A1 SHOX2
25 gland morphogenesis GO:0022612 9.68 FGFR2 HOXD13
26 notochord development GO:0030903 9.67 COL2A1 SOX9
27 skin morphogenesis GO:0043589 9.67 COL1A1 COL1A2
28 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3 IFITM5 MSX2
29 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.66 FGFR2 RUNX2
30 bone trabecula formation GO:0060346 9.66 COL1A1 MSX2
31 positive regulation of phospholipase activity GO:0010518 9.65 FGFR2 FGFR3
32 limb bud formation GO:0060174 9.65 COL2A1 FGFR2 SOX9
33 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.64 FGFR2 HOXD13
34 lacrimal gland development GO:0032808 9.64 FGFR2 SOX9
35 otic vesicle development GO:0071599 9.63 COL2A1 SOX9
36 otic vesicle formation GO:0030916 9.63 FGFR2 SOX9
37 endochondral ossification GO:0001958 9.62 COL1A1 COL2A1 FGFR3 RUNX2
38 heart valve development GO:0003170 9.61 SHOX2 SOX9
39 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.61 FGFR2 HOXD13
40 endochondral bone growth GO:0003416 9.61 FGFR2 FGFR3 MSX2
41 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
42 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.58 COL1A1 COL2A1 SHOX2
43 chondrocyte development GO:0002063 9.56 MSX2 RUNX2 SHOX2 SOX9
44 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3 RUNX2 SHOX2 SOX9
45 negative regulation of post-translational protein modification GO:1901874 9.51 CRTAP P3H1
46 ossification GO:0001503 9.43 COL1A1 COL2A1 MSX2 RUNX2 SLC26A2 SOX9
47 prostate gland development GO:0030850 9.4 SOX9
48 skeletal system development GO:0001501 9.32 COL1A1 COL1A2 COL2A1 COMP FGFR3 HOXD13
49 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.19 FGFR2 HOXD13 PIK3R2 RUNX2 SHOX SHOX2

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.54 COL1A1 COL1A2 COMP
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR2 FGFR3 PIK3R2
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR2 FGFR3 PIK3R2
4 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR2 FGFR3
5 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2 COL2A1 COMP
6 platelet-derived growth factor binding GO:0048407 8.8 COL1A1 COL1A2 COL2A1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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