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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 76 29 55 44 15 73

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 35 387.8
MeSH 44 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 Protective Agents 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 : 76 Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in... 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 82)
# Related Disease Score Top Affiliating Genes
1 bone fracture 30.1 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 NOG SLC26A2
5 otosclerosis 1 12.5
6 otosclerosis 10 12.4
7 otosclerosis 3 12.2
8 otosclerosis 2 12.2
9 otosclerosis 5 12.1
10 otosclerosis 4 12.1
11 otosclerosis 7 12.1
12 otosclerosis 8 12.1
13 otosclerosis, familial 12.0
14 buschke-ollendorff syndrome 11.4
15 deafness, progressive, with stapes fixation 11.1
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
17 sensorineural hearing loss 10.5
18 measles 10.5
19 brittle bone disorder 10.4
20 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
21 neuroma 10.3
22 high bone mass osteogenesis imperfecta 10.2 COL1A1 COL1A2
23 superior semicircular canal dehiscence 10.2
24 larsen-like syndrome 10.2 COL1A1 COL1A2
25 osteogenesis imperfecta, type vii 10.2 COL1A1 COL1A2
26 osteogenesis imperfecta, type viii 10.2 COL1A1 COL1A2
27 otitis media 10.2
28 acoustic neuroma 10.2
29 osteogenesis imperfecta, type vi 10.2 COL1A1 SERPINF1
30 osseous heteroplasia, progressive 10.2 BMP2 BMP4 NOG
31 osteoporotic fracture 10.2 COL1A1 TNFRSF11B
32 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 SLC26A2
33 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
34 hyperostosis 10.2 COL1A1 TGFB1 TNFRSF11B
35 bone development disease 10.1 COL1A1 COL1A2 SLC26A2
36 tympanosclerosis 10.1 BMP2 COL1A1
37 osteogenesis imperfecta, type i 10.1 COL1A1 COL1A2 TNFRSF11B
38 viral infectious disease 10.1
39 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2 SERPINF1
40 osteochondrodysplasia 10.1 COL1A1 COL1A2 SLC26A2
41 osteogenesis imperfecta, type iii 10.1 COL1A1 COL1A2 SERPINF1
42 diffuse scleroderma 10.1 COL1A1 TGFB1
43 bruck syndrome 10.1 COL1A1 COL1A2 SERPINF1
44 aortic valve disease 2 10.1 AGT BMP2 TNFRSF11B
45 synovial chondromatosis 10.1 BMP2 BMP4 COL1A1 NOG
46 aortic valve disease 1 10.1 BMP2 TGFB1 TNFRSF11B
47 stiff skin syndrome 10.0 COL1A2 TGFB1
48 perrault syndrome 1 10.0 OTSC1 OTSC10 OTSC2 OTSC3 OTSC4 OTSC5
49 diastrophic dysplasia 10.0
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 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:

46
# 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Protective Agents Phase 4
3 Antiviral Agents Phase 4
4 Respiratory System Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Antioxidants Phase 4
7 Antidotes Phase 4
8 Expectorants Phase 4
9 N-monoacetylcystine Phase 4
10 Free Radical Scavengers Phase 4
11
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
12 Diphosphonates Phase 3
13 Bone Density Conservation Agents Phase 3

Interventional clinical trials:

(show all 14)
# 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 Study of Binaural Squelch Effect in Unilateral Otosclerosis Recruiting NCT03587792
13 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888
14 Robot Based Tympanic Tube Placement Not yet recruiting NCT03569943 Not Applicable

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 29
Sources

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

41
Bone, Testes, Skin, Eye, Cortex, Kidney, Heart
Sources

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50) (show all 1032)
# Title Authors Year
1
Surgery for Chronic Otitis Media Causes Greater Taste Disturbance Than Surgery for Otosclerosis. ( 30540698 )
2019
2
Otosclerosis and Dysplasias of the Temporal Bone. ( 30466643 )
2019
3
The Epidemiology of Otosclerosis in a British Cohort. ( 30540696 )
2019
4
Predictive factors in 995 stapes surgeries for primary otosclerosis. ( 29570801 )
2018
5
Controversies in the Evaluation and Management of Otosclerosis. ( 29502731 )
2018
6
The Audiology of Otosclerosis. ( 29397946 )
2018
7
History of Otosclerosis and Stapes Surgery. ( 29502722 )
2018
8
Otosclerosis With Concomitant Anterior Malleolar Ligament Fixation. ( 29227459 )
2018
9
Otosclerosis: Temporal Bone Pathology. ( 29397947 )
2018
10
Otosclerosis and Stapes Surgery. ( 29502732 )
2018
11
Absence of Measles Virus Detection from Stapes of Patients with Otosclerosis. ( 28971731 )
2018
12
Use of Lasers in Otosclerosis Surgery. ( 29502726 )
2018
13
Potential of Robot-Based Surgery for Otosclerosis Surgery. ( 29502730 )
2018
14
Long-Term Hearing Outcomes following Stapedotomy in Patients with Otosclerosis and Preoperative Small Air-Bone Gap. ( 29698956 )
2018
15
Medical Management of Otosclerosis. ( 29502728 )
2018
16
Special Anatomic Considerations in Otosclerosis Surgery. ( 29397114 )
2018
17
Connexin 26 Immunohistochemistry in Temporal Bones With Cochlear Otosclerosis. ( 29911391 )
2018
18
Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study. ( 29890816 )
2018
19
Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population. ( 29728750 )
2018
20
Stapes surgery preserving the superstructure of stapes (Takagi's stapedotomy) in otosclerosis: A retrospective study of 24 consecutive cases. ( 29773417 )
2018
21
Living with otosclerosis: disease-specific health-related quality-of-life measurement in patients undergoing stapes surgery. ( 29116384 )
2018
22
Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation? ( 29502727 )
2018
23
Management of Chronic Suppurative Otitis Media and Otosclerosis in Developing Countries. ( 29525390 )
2018
24
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
25
Clinical Evaluation of the Patient with Otosclerosis. ( 29395113 )
2018
26
Minimally traumatic stapes surgery for otosclerosis: Risk reduction of post-operative vertigo. ( 29428320 )
2018
27
Impact of Imaging in Management of Otosclerosis. ( 29502724 )
2018
28
Revision Surgery for Otosclerosis. ( 29502729 )
2018
29
An internally validated prognostic model for success in revision stapes surgery for otosclerosis. ( 29520797 )
2018
30
Prevention and Management of Complications in Otosclerosis Surgery. ( 29397113 )
2018
31
An alternative approach to mixed hearing loss in otosclerosis: stapes surgery combined with an active middle-ear implant. ( 29891017 )
2018
32
Otosclerosis: From Genetics to Molecular Biology. ( 29502723 )
2018
33
Successful Cochlear Implantation of a Split Electrode Array in a Patient With Far-advanced Otosclerosis Assisted by Electromagnetic Navigation: A Case Report. ( 29995006 )
2018
34
Otosclerosis in a nonendemic population: Utility of CT scan and correlation with audiometry and surgical outcome. ( 30036411 )
2018
35
Stapes Surgery for Otosclerosis in Patients Presenting with Mixed Hearing Loss. ( 30130744 )
2018
36
A Role for Acoustic Stimulation in Advanced Otosclerosis: Direct Acoustic Cochlear Implant versus Cochlear Implant. ( 30130747 )
2018
37
3D fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging at different stages of otosclerosis. ( 30191304 )
2018
38
Nitinol versus non-Nitinol prostheses in otosclerosis surgery: a meta-analysis. ( 30197420 )
2018
39
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. ( 30287925 )
2018
40
Bilateral Vestibulopathy Due to Severe Cochlear Otosclerosis: A Well-Known Condition Without Any Favorable Solution. ( 30319876 )
2018
41
Retrospective Review of Otic Capsule Contour and Thickness in Patients with Otosclerosis and Individuals with Normal Hearing on CT. ( 30467217 )
2018
42
Cochlear implantation in far-advanced otosclerosis: hearing results and complications. ( 30498273 )
2018
43
Importance of a dedicated neuroradiologist in reporting high-resolution computed tomography for otosclerosis: a retrospective comparison study of 40 patients. ( 28318477 )
2017
44
Diagnostic performance of high resolution computed tomography in otosclerosis. ( 28798924 )
2017
45
Cochlear implantation in patients with otosclerosis of the otic capsule. ( 28549773 )
2017
46
Otosclerosis: An update on diagnosis and treatment. ( 28060022 )
2017
47
An Assessment of the Clinical Acceptability of Direct Acoustic Cochlear Implantation for Adults With Advanced Otosclerosis in the United Kingdom. ( 28538469 )
2017
48
Surgical Results and Complications of Cochlear Implantation in Far-Advanced Otosclerosis. ( 29360086 )
2017
49
The surgical treatment results of otosclerosis at the Department of Otolaryngology Silesian Medical University in Zabrze in years 2000-2010. ( 28485298 )
2017
50
Audiological outcome of stapes surgery for far advanced cochlear otosclerosis. ( 28874211 )
2017
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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 66
Show member pathways
 12.42 BMP2 BMP4 COL1A1 COL1A2 TGFB1
2
Human Embryonic Stem Cell Pluripotency 64
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 37
11.68 COL1A1 COL1A2 TGFB1
5
Amoebiasis 37
11.64 COL1A1 COL1A2 TGFB1
6
Elastic fibre formation 66
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
Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway 1
10.86 BMP2 TGFB1
12
TGF-beta signaling pathway (KEGG) 37
10.85 BMP2 BMP4 NOG TGFB1
13
G-protein signaling_Rap2B regulation pathway 22
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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