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MCID: OTS001
MIFTS: 53

Otosclerosis

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Otosclerosis

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MalaCards integrated aliases for Otosclerosis:

Name: Otosclerosis 12 77 30 56 45 15 17 74

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 36 387.8
MeSH 45 D010040
Sources

Summaries for Otosclerosis

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Disease Ontology : 12 An otitis interna characterized by an abnormal bone growth in the middle ear.

MalaCards based summary : Otosclerosis is related to bone fracture and ankylosis, and has symptoms including earache An important gene associated with Otosclerosis is OTSC5 (Otosclerosis 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. The drugs Acetylcysteine and Free Radical Scavengers have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 77 Otosclerosis is a condition where one or more foci of irregularly laid spongy bone replace part of... more...

Sources

Related Diseases for Otosclerosis

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Diseases in the Otosclerosis family:

Otosclerosis 1 Otosclerosis 2
Otosclerosis 3 Otosclerosis 5
Otosclerosis 4 Otosclerosis 7
Otosclerosis 8 Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 bone fracture 30.3 BMP2 TGFB1
2 ankylosis 30.1 BMP2 BMP4 NOG TNFRSF11B
3 bone resorption disease 30.0 BMP2 COL1A1 TNFRSF11B
4 osteoporosis 29.8 BMP2 BMP4 COL1A1 COL1A2 TGFB1 TNFRSF11B
5 otosclerosis 1 12.5
6 otosclerosis 10 12.4
7 otosclerosis 2 12.3
8 otosclerosis 3 12.3
9 otosclerosis 5 12.3
10 otosclerosis 7 12.3
11 otosclerosis 4 12.2
12 otosclerosis 8 12.2
13 otosclerosis, familial 12.0
14 buschke-ollendorff syndrome 11.5
15 deafness, progressive, with stapes fixation 11.1
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
17 sensorineural hearing loss 10.5
18 brittle bone disorder 10.5
19 measles 10.5
20 col1a1/2-related osteogenesis imperfecta 10.5
21 meniere disease 10.5
22 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A1 COL1A2
23 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
24 otitis media 10.3
25 superior semicircular canal dehiscence 10.3
26 larsen-like syndrome 10.3 COL1A1 COL1A2
27 osteogenesis imperfecta, type vii 10.3 COL1A1 COL1A2
28 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2
29 neuroma 10.3
30 osteoporotic fracture 10.2 COL1A1 TNFRSF11B
31 acoustic neuroma 10.2
32 osteogenesis imperfecta, type vi 10.2 COL1A1 SERPINF1
33 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
34 tympanosclerosis 10.2 BMP2 COL1A1
35 osseous heteroplasia, progressive 10.2 BMP2 BMP4 NOG
36 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 SLC26A2
37 hyperostosis 10.2 COL1A1 TGFB1 TNFRSF11B
38 diffuse scleroderma 10.2 COL1A1 TGFB1
39 bone development disease 10.2 COL1A1 COL1A2 SLC26A2
40 pathologic nystagmus 10.2
41 osteogenesis imperfecta, type i 10.2 COL1A1 COL1A2 TNFRSF11B
42 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2 SERPINF1
43 osteogenesis imperfecta, type iii 10.1 COL1A1 COL1A2 SERPINF1
44 bruck syndrome 10.1 COL1A1 COL1A2 SERPINF1
45 aortic valve disease 2 10.1 AGT BMP2 TNFRSF11B
46 synovial chondromatosis 10.1 BMP2 BMP4 COL1A1 NOG
47 aortic valve disease 1 10.1 BMP2 TGFB1 TNFRSF11B
48 diastrophic dysplasia 10.0
49 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
50 cholesteatoma of middle ear 10.0

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to Otosclerosis
Sources

Symptoms & Phenotypes for Otosclerosis

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UMLS symptoms related to Otosclerosis:


earache

MGI Mouse Phenotypes related to Otosclerosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 AGT BMP2 BMP4 CD46 COL1A1 COL1A2
2 craniofacial MP:0005382 9.91 BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
3 digestive/alimentary MP:0005381 9.87 BMP2 BMP4 COL1A1 NOG RELN SERPINF1
4 limbs/digits/tail MP:0005371 9.8 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
5 muscle MP:0005369 9.7 AGT BMP4 COL1A1 COL1A2 NOG RELN
6 reproductive system MP:0005389 9.61 AGT BMP2 BMP4 CD46 COL1A1 NOG
7 skeleton MP:0005390 9.28 BMP2 BMP4 COL1A1 COL1A2 NOG SERPINF1
Sources

Drugs & Therapeutics for Otosclerosis

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Drugs for Otosclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Free Radical Scavengers Phase 4
3 Expectorants Phase 4
4 Protective Agents Phase 4
5 Antiviral Agents Phase 4
6 Antidotes Phase 4
7 Respiratory System Agents Phase 4
8 Antioxidants Phase 4
9 Anti-Infective Agents Phase 4
10 N-monoacetylcystine Phase 4
11
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
12 Bone Density Conservation Agents Phase 3
13 Diphosphonates Phase 3
14
Lidocaine Approved, Vet_approved 137-58-6 3676
15
Racepinephrine Approved 329-65-7 838
16
Epinephrine Approved, Vet_approved 51-43-4 5816
17 Epinephryl borate
18 Central Nervous System Depressants
19 Anesthetics, General
20 Anesthetics, Local
21 Narcotics
22 Peripheral Nervous System Agents
23 Anesthetics

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Efficacy of Acetylcysteine in Patients Undergoing Surgery for Otosclerosis Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
3 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
4 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
5 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272 Not Applicable
6 Quantification of Prosthesis Penetration With Conebeam in Otosclerosis Completed NCT02901093
7 Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively Completed NCT02554422 Not Applicable
8 Clinical Assessment of the External Sound Processor Worn by Patients Implanted With Codacs Completed NCT02156167 Not Applicable
9 Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425 Not Applicable
10 Healthful Diets and Risk of Hearing Loss Completed NCT03351023
11 Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS) Recruiting NCT02435446 Not Applicable
12 Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia Recruiting NCT03888079 Local anesthetic;general anesthetic
13 Study of Binaural Squelch Effect in Unilateral Otosclerosis Recruiting NCT03587792
14 Robot Based Tympanic Tube Placement Active, not recruiting NCT03569943 Not Applicable
15 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888

Search NIH Clinical Center for Otosclerosis

Cochrane evidence based reviews: otosclerosis

Sources

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

# Genetic test Affiliating Genes
1 Otosclerosis 30
Sources

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

42
Bone, Testes, Skin, Eye, T Cells, Cortex
Sources

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50) (show all 1484)
# Title Authors Year
1
Surgery for Chronic Otitis Media Causes Greater Taste Disturbance Than Surgery for Otosclerosis. ( 30540698 )
2019
2
Tinnitus Severity Change Following Stapedotomy in Patients With Otosclerosis. ( 31083076 )
2019
3
Stapedotomy with incus vibroplasty - A novel surgical solution of advanced otosclerosis and its place among existing therapeutic modalities - Hungarian single institutional experiences. ( 31079859 )
2019
4
Tinnitus Severity Change Following Stapedotomy in Patients With Otosclerosis. ( 31033926 )
2019
5
Treatment of moderate-to-severe otosclerosis with simultaneous piston surgery and incus vibroplasty. ( 31007489 )
2019
6
High-Resolution Computed Tomography of the Inner Ear: Effect of Otosclerosis on Cochlear Aqueduct Dimensions. ( 30971097 )
2019
7
Insufficient evidence for a role of SERPINF1 in otosclerosis. ( 30968248 )
2019
8
Stapes Surgery for Profound Hearing Loss Secondary to Otosclerosis. ( 30939914 )
2019
9
Assessment of inflammatory markers in otosclerosis patients. ( 30926454 )
2019
10
Prevalence and severity of tinnitus in Polish otosclerosis patients qualified for stapes surgery. ( 30895434 )
2019
11
Otosclerosis: anatomical distribution of otosclerotic loci analyzed by high-resolution computed tomography. ( 30887165 )
2019
12
Clinical Features of Ears With Otosclerosis and Endolymphatic Hydrops. ( 30870351 )
2019
13
Our experience of stapes superstructure and incudostapedial joint preservation in otosclerosis surgery. ( 30793516 )
2019
14
Involvement of the Internal Auditory Canal in Subjects With Cochlear Otosclerosis: A Less Acknowledged Third Window That Affects Surgical Outcome. ( 30741893 )
2019
15
Modified-Power-Piston: Short-Incudial-Process-Vibroplasty and Simultaneous Stapedotomy in Otosclerosis. ( 30694983 )
2019
16
The Epidemiology of Otosclerosis in a British Cohort. ( 30540696 )
2019
17
Otosclerosis and Dysplasias of the Temporal Bone. ( 30466643 )
2019
18
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. ( 30287925 )
2019
19
Absence of Measles Virus Detection from Stapes of Patients with Otosclerosis. ( 28971731 )
2018
20
Management of Chronic Suppurative Otitis Media and Otosclerosis in Developing Countries. ( 29525390 )
2018
21
Living with otosclerosis: disease-specific health-related quality-of-life measurement in patients undergoing stapes surgery. ( 29116384 )
2018
22
Otosclerosis With Concomitant Anterior Malleolar Ligament Fixation. ( 29227459 )
2018
23
Clinical Evaluation of the Patient with Otosclerosis. ( 29395113 )
2018
24
Prevention and Management of Complications in Otosclerosis Surgery. ( 29397113 )
2018
25
Special Anatomic Considerations in Otosclerosis Surgery. ( 29397114 )
2018
26
Surgical treatment in children with otosclerosis and congenital stapes fixation: our experience and outcome. ( 30919820 )
2018
27
Cochlear Implant Users with Otosclerosis: Are Hearing and Quality of Life Outcomes Worse than in Cochlear Implant Users without Otosclerosis? ( 30739102 )
2018
28
Significance of internal auditory canal diverticula in ears with otosclerosis. ( 30682901 )
2018
29
Superior semicircular canal dehiscence with concomitant otosclerosis-A literature review and case discussion. ( 30564330 )
2018
30
Cochlear implantation in far-advanced otosclerosis: hearing results and complications. ( 30498273 )
2018
31
Retrospective Review of Otic Capsule Contour and Thickness in Patients with Otosclerosis and Individuals with Normal Hearing on CT. ( 30467217 )
2018
32
The Audiology of Otosclerosis. ( 29397946 )
2018
33
Otosclerosis: Temporal Bone Pathology. ( 29397947 )
2018
34
Minimally traumatic stapes surgery for otosclerosis: Risk reduction of post-operative vertigo. ( 29428320 )
2018
35
RESPONSE TO "MICHAEL YONG, ERICA ZAIA, BRIAN WESTERBERG, AND JANE LEA. DIAGNOSIS OF SUPERIOR SEMICIRCULAR CANAL DEHISCENCE IN THE PRESENCE OF CONCOMITANT OTOSCLEROSIS". OTOL NEUROTOL 2017;38: 1071-1075. ( 29494468 )
2018
36
History of Otosclerosis and Stapes Surgery. ( 29502722 )
2018
37
Otosclerosis: From Genetics to Molecular Biology. ( 29502723 )
2018
38
Impact of Imaging in Management of Otosclerosis. ( 29502724 )
2018
39
Use of Lasers in Otosclerosis Surgery. ( 29502726 )
2018
40
Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation? ( 29502727 )
2018
41
Medical Management of Otosclerosis. ( 29502728 )
2018
42
Revision Surgery for Otosclerosis. ( 29502729 )
2018
43
Potential of Robot-Based Surgery for Otosclerosis Surgery. ( 29502730 )
2018
44
Controversies in the Evaluation and Management of Otosclerosis. ( 29502731 )
2018
45
Otosclerosis and Stapes Surgery. ( 29502732 )
2018
46
An internally validated prognostic model for success in revision stapes surgery for otosclerosis. ( 29520797 )
2018
47
Predictive factors in 995 stapes surgeries for primary otosclerosis. ( 29570801 )
2018
48
Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population. ( 29728750 )
2018
49
Stapes surgery preserving the superstructure of stapes (Takagi's stapedotomy) in otosclerosis: A retrospective study of 24 consecutive cases. ( 29773417 )
2018
50
Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study. ( 29890816 )
2018
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Variations for Otosclerosis

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Expression for Otosclerosis

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Search GEO for disease gene expression data for Otosclerosis.
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Pathways for Otosclerosis

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Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 67
Show member pathways
 12.42 BMP2 BMP4 COL1A1 COL1A2 TGFB1
2
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.24 BMP2 BMP4 NOG TGFB1
3
Senescence and Autophagy in Cancer 1
11.73 BMP2 COL1A1 TGFB1
4
AGE-RAGE signaling pathway in diabetic complications 38
11.69 COL1A1 COL1A2 TGFB1
5
Amoebiasis 38
11.64 COL1A1 COL1A2 TGFB1
6
Elastic fibre formation 67
Show member pathways
 11.44 BMP2 BMP4 TGFB1
7
Adipogenesis 1
11.38 AGT BMP2 BMP4 TGFB1
8
TGF-beta Receptor Signaling (WikiPathways) 1
11.26 BMP4 NOG TGFB1
9
Cardiac Progenitor Differentiation 1
11.16 BMP4 NOG TGFB1
10
Differentiation Pathway 1
11.01 BMP4 NOG TGFB1
11
TGF-beta signaling pathway (KEGG) 38
10.9 BMP2 BMP4 NOG TGFB1
12
Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway 1
10.86 BMP2 TGFB1
13
G-protein signaling_Rap2B regulation pathway 23
10.73 BMP2 BMP4 COL1A1 COL1A2 TGFB1
14
Osteoblast Signaling 1
10.6 COL1A1 TNFRSF11B
Sources

GO Terms for Otosclerosis

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Cellular components related to Otosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
2 collagen-containing extracellular matrix GO:0062023 9.62 COL1A1 COL1A2 SERPINF1 TGFB1
3 extracellular matrix GO:0031012 9.55 COL1A1 COL1A2 RELN TGFB1 TNFRSF11B
4 extracellular space GO:0005615 9.32 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
5 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

Biological processes related to Otosclerosis according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.99 BMP2 BMP4 COL1A1 TGFB1
2 positive regulation of neuron projection development GO:0010976 9.91 AGT RELN SERPINF1
3 kidney development GO:0001822 9.91 AGT BMP4 SERPINF1
4 response to estradiol GO:0032355 9.9 AGT COL1A1 TGFB1
5 wound healing GO:0042060 9.9 COL1A1 NOG TGFB1
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 AGT RELN TGFB1
7 BMP signaling pathway GO:0030509 9.88 BMP2 BMP4 NOG
8 neural tube closure GO:0001843 9.87 BMP4 NOG TGFB1
9 cellular response to mechanical stimulus GO:0071260 9.87 AGT COL1A1 TGFB1
10 cartilage development GO:0051216 9.86 BMP2 BMP4 NOG
11 positive regulation of epithelial cell proliferation GO:0050679 9.83 BMP4 NOG TGFB1
12 cell development GO:0048468 9.83 BMP2 BMP4 TGFB1
13 regulation of MAPK cascade GO:0043408 9.82 BMP2 BMP4 TGFB1
14 cellular response to growth factor stimulus GO:0071363 9.81 BMP2 BMP4 TGFB1
15 SMAD protein signal transduction GO:0060395 9.81 BMP2 BMP4 TGFB1
16 blood vessel development GO:0001568 9.79 BMP4 COL1A1 COL1A2
17 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.78 BMP2 BMP4 TGFB1
18 negative regulation of cell cycle GO:0045786 9.77 BMP2 BMP4 TGFB1
19 ureteric bud development GO:0001657 9.77 BMP4 NOG TGFB1
20 embryonic skeletal system development GO:0048706 9.75 BMP4 COL1A1 NOG
21 lung morphogenesis GO:0060425 9.74 BMP4 NOG
22 chondrocyte differentiation GO:0002062 9.74 BMP2 BMP4 TGFB1
23 endocardial cushion morphogenesis GO:0003203 9.73 BMP2 NOG
24 positive regulation of cellular protein metabolic process GO:0032270 9.73 AGT TGFB1
25 epithelial to mesenchymal transition GO:0001837 9.73 BMP2 NOG TGFB1
26 positive regulation of cartilage development GO:0061036 9.72 BMP2 BMP4
27 positive regulation of superoxide anion generation GO:0032930 9.72 AGT TGFB1
28 positive regulation of ossification GO:0045778 9.72 BMP2 BMP4
29 cellular response to BMP stimulus GO:0071773 9.72 BMP2 BMP4 NOG
30 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 BMP2 TGFB1
31 protein heterotrimerization GO:0070208 9.71 COL1A1 COL1A2
32 positive regulation of regulatory T cell differentiation GO:0045591 9.71 CD46 TGFB1
33 positive regulation of SMAD protein signal transduction GO:0060391 9.71 BMP4 TGFB1
34 osteoblast differentiation GO:0001649 9.71 BMP2 BMP4 COL1A1 NOG
35 response to arsenic-containing substance GO:0046685 9.7 SERPINF1 TNFRSF11B
36 embryonic skeletal joint morphogenesis GO:0060272 9.69 BMP4 NOG
37 membranous septum morphogenesis GO:0003149 9.69 BMP4 NOG
38 mesenchymal cell differentiation GO:0048762 9.68 BMP2 NOG
39 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.68 BMP4 TGFB1
40 renal system process GO:0003014 9.68 AGT BMP4
41 skin morphogenesis GO:0043589 9.67 COL1A1 COL1A2
42 pharyngeal arch artery morphogenesis GO:0061626 9.67 BMP4 NOG
43 positive regulation of bone mineralization GO:0030501 9.67 BMP2 BMP4 TGFB1
44 regulation of protein import into nucleus GO:0042306 9.66 BMP4 TGFB1
45 face morphogenesis GO:0060325 9.65 COL1A1 NOG TGFB1
46 telencephalon regionalization GO:0021978 9.64 BMP2 BMP4
47 BMP signaling pathway involved in heart development GO:0061312 9.63 BMP4 NOG
48 endoderm development GO:0007492 9.63 BMP4 NOG TGFB1
49 common-partner SMAD protein phosphorylation GO:0007182 9.62 BMP4 TGFB1
50 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.62 BMP2 BMP4

Molecular functions related to Otosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 BMP2 BMP4 TGFB1 TNFRSF11B
2 co-receptor binding GO:0039706 9.37 BMP2 BMP4
3 platelet-derived growth factor binding GO:0048407 9.32 COL1A1 COL1A2
4 BMP receptor binding GO:0070700 9.26 BMP2 BMP4
5 growth factor activity GO:0008083 9.26 AGT BMP2 BMP4 TGFB1
6 transforming growth factor beta receptor binding GO:0005160 8.8 BMP2 BMP4 TGFB1
Sources

Sources for Otosclerosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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