Summaries for Otosclerosis

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44Wikipedia, 22MalaCards
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Wikipedia: Otosclerosis is an abnormal growth of bone near the middle ear. It can result in hearing loss.44 more...

MalaCards: Otosclerosis is related to otosclerosis, familial and diastrophic dysplasia. An important gene associated with Otosclerosis is OTSC5 (otosclerosis 5), and among its related pathways are ACE Inhibitor Pathway, Pharmacodynamics and Actin-Based Motility by Rho Family GTPases. The compounds teriparatide and titanium have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related mouse phenotypes are liver/biliary system and craniofacial.

Aliases & Descriptions for Otosclerosis

Sources:
6Disease Ontology, 7diseasecard, 16GeneTests, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 19ICD9CM, 24MeSH
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Aliases & Descriptions:

otosclerosis 6 7 16 8 32 43

External Ids:

ICD9CM19 387.8

Related Diseases for Otosclerosis

Sources:
13GeneCards, 14GeneDecks
See all sources

Disease types for otosclerosis family:

otosclerosis 1 otosclerosis 2
otosclerosis 3 otosclerosis 4
otosclerosis 5 otosclerosis 7
otosclerosis 8

Diseases related to otosclerosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1otosclerosis, familial32.2OTSC5, OTSC7, COL1A2
2diastrophic dysplasia28.7BMP2, IL6, TGFB1, SLC26A2
3osteogenesis imperfecta28.5BMP2, BMP3, CD36, PTH1R, COL1A1, COL1A2
4ankylosis26.9BMP2, TNFRSF11B, PTH1R, NOG, NOTCH1, TGFB1
5aldosteronism25.6BMP2, BMP4, CD36, IL6, COL1A1, COL1A2
6osteoporosis24.7BMP2, BMP4, CD36, IL6, TNFRSF11B, PTH1R
7col1a1/2-related osteogenesis imperfecta13.7COL1A1, COL1A2
8osteogenesis imperfecta type 413.7COL1A1, COL1A2
9ehlers-danlos syndrome type viib13.7CD36, COL1A2
10caffey disease13.6CD36, COL1A1
11ehlers-danlos syndrome type viia13.6CD36, COL1A1, COL1A2
12osteogenesis imperfecta, type ii13.6CD36, COL1A1, COL1A2
13osteogenesis imperfecta type i13.6CD36, COL1A1, COL1A2
14osteogenesis imperfecta type iii13.6CD36, COL1A1, COL1A2
15hyperostosis13.4TNFRSF11B, COL1A1, TGFB1
16dentinogenesis imperfecta13.4CD36, COL1A1, COL1A2
17osteoporosis, postmenopausal13.4CD36, TNFRSF11B, COL1A1
18epiphyseal dysplasia13.4CD36, PTH1R, SLC26A2
19alport syndrome13.4COL1A1, COL1A2, TGFB1
20multiple epiphyseal dysplasia13.4CD36, PTH1R, SLC26A2
21oral submucous fibrosis13.4CD36, COL1A1, COL1A2, TGFB1
22usual interstitial pneumonia13.3COL1A1, AGTR1, TGFB1
23bone cancer13.3CD36, TNFRSF11B, COL1A1
24progressive osseous heteroplasia13.2BMP2, BMP4, NOG
25hip dysplasia13.2IL6, TGFB1, SLC26A2
26osteopenia/osteoporosis13.2BMP2, CD36, TNFRSF11B, COL1A2
27marfan syndrome13.2CD36, COL1A2, AGTR1, TGFB1
28osteomalacia13.2BMP3, CD36, TNFRSF11B, PTH1R
29chondrodysplasia13.1CD36, PTH1R, COL1A1, SLC26A2
30aortic valve stenosis13.1BMP2, TNFRSF11B, AGT
31fibrodysplasia ossificans progressiva13.1BMP2, BMP4, NOG
32bullous keratopathy13.1BMP2, BMP4, TGFB1
33synostosis13.1BMP2, BMP4, NOG
34poems syndrome13.1CD36, IL6, TNFRSF11B
35collagen disease13.1CD36, IL6, COL1A1
36rickets13.0CD36, IL6, TNFRSF11B
37pilomatrixoma13.0BMP2, BMP4
38keloids13.0CD36, SP1, TGFB1
39myelofibrosis13.0BMP2, TNFRSF11B, NOG, TGFB1
40alcoholic liver cirrhosis12.9CD36, IL6, TNFRSF11B, TGFB1
41cerebral aneurysms12.9IL6, COL1A2, AGTR1
42renal osteodystrophy12.9CD36, IL6, TNFRSF11B, PTH1R
43periostitis12.9BMP2, BMP4, CD36, TNFRSF11B, TGFB1
44biliary atresia12.8CD36, IL6, TNFRSF11B, TGFB1
45cholesteatoma12.8IL6, TNFRSF11B, TGFB1, A1BG
46proliferative glomerulonephritis12.8CD36, IL6, AGTR1, TGFB1
47ossification of posterior longitudinal ligament of spine12.8BMP2, BMP4, CD36, PTH1R, TGFB1
48secondary syphilis12.8BMP2, BMP4, CD36, TNFRSF11B, PTH1R
49hypercalcemia12.7CD36, IL6, TNFRSF11B, PTH1R
50primary hyperparathyroidism12.7CD36, IL6, TNFRSF11B, PTH1R, COL1A1

Graphical network of the top 20 diseases related to otosclerosis:



Graphical network of diseases related to otosclerosis

Clinical Features for Otosclerosis

Drugs & Therapeutics for Otosclerosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Approved drugs:

Search CenterWatch for otosclerosis

Drug clinical trials:

Search ClinicalTrials for otosclerosis

Search NIH Clinical Center for otosclerosis

Search CenterWatch for otosclerosis

Genetic Tests for Otosclerosis

Sources:
16GeneTests
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Genetic tests related to otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis
clinical/research

Anatomical Context for Otosclerosis

Sources:
22MalaCards
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MalaCards organs/tissues related to otosclerosis:

22
T cells

Phenotypes for genes affiliated with Otosclerosis

Sources:
25MGI
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Publications for genes affiliated with Otosclerosis

Sources:
35PubMed
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Articles related to otosclerosis:

(show all 37)
idTitleAuthorsYearAffiliating Genes
1Restriction analysis of otosclerosis-associated CD46 splicing variants. (19597833)Csomor P.... Karosi T.2010CD46
2Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India. (20882487)Priyadarshi S.... Ramchander P.V.2010RELN
3Involvement of T-cell receptor-beta alterations in th e development of otosclerosis linked to OTSC2. (20182450)Schrauwen I.... Van Camp G.2010OTSC2
4Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. (19847460)Schrauwen I.... Van Camp G.2010RELN
5No evidence for association between the renin-angiote nsin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)Schrauwen I.... Van Camp G.2009ACE, AGTR1, AGT
6Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. (19207109)Thys M.... Van Camp G.2009TGFB1
7A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. (19230858)Schrauwen I.... Van Camp G.2009RELN
8Otosclerosis or congenital stapes ankylosis? The diag nostic role of genetic analysis. (19471170)Emery S.B.... Lesperance M.M.2009NOG
9Genetics of otosclerosis. (19546831)Thys M.... Van Camp G.2009TGFB1
10Otosclerosis and TGF-beta 1 gene in black South Africans. (19113055)Tshifularo M.... Joseph C.A.2008TGFB1
11Disease-associated novel CD46 splicing variants and pathologic bone remodeling in otosclerosis. (18677279)Karosi T.... Sziklai I.2008CD46
12A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. (18224337)Bel Hadj Ali I.... Van Camp G.2008TJP2, TRPM3, KLF9
13Relation between renin-angiotensin-aldosterone system and otosclerosis: a genetic association and in vitro study. (18491423)Imauchi Y.... Grayeli A.B.2008ACE, AGTR1, AGT
14Medical treatment of otosclerosis: rationale for use of bisphosphonates. (19205157)Brookler K.2008TNFRSF11B
15Association of bone morphogenetic proteins with otosclerosis. (18021008)Schrauwen I.... Van Camp G.2008TGFB1, BMP4, BMP2
16Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7. (17568406)Pauw R.J.... Cremers C.W.2007OTSC7
17The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. (17588962)Thys M.... Van Camp G.2007TGFB1
18Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. (17489845)Chen W.... Smith R.J.2007COL1A1
19A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. (17213839)Thys M.... Van Camp G.2007OTSC7
20Clinical and genetic analysis of two Tunisian otosclerosis families. (17568407)Ali I.B.... Camp G.V.2007COL1A2
21Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. (16618911)Brownstein Z.... Avraham K.B.2006OTSC4
22Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. (16168495)Iliadou V.... Petersen M.B.2006COL1A1, COL1A2, NOG
23Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)Imauchi Y.... Grayeli A.B.2006IL6, SLC26A2
24The phenotype of the first otosclerosis family linked to OTSC5. (16639267)Pauw R.J.... Cremers C.W.2006OTSC5
25Current research in otosclerosis. (16974150)Stankovic K.M.... McKenna M.J.2006TNFRSF11B
26Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (15241219)McKenna M.J.... Kristiansen A.G.2004COL1A1, SP1
27Association between osteoporosis and otosclerosis in women. (15453937)Clayton A.E.... McKenna M.J.2004COL1A1
28Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (15211650)Rodriguez L.... Zapata C.2004COL1A1, COL1A2
29A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24. (15173231)Van Den Bogaert K.... Van Camp G.2004OTSC5
30Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. (14600463)Grayeli A.B.... Ferrary E.2003SLC26A2
31Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. (12114476)Chen W.... Smith R.J.2002OTSC3
32Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. (11860074)McKenna M.J.... Tropitzsch A.S.2002COL1A1
33A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. (11170898)Van Den Bogaert K.... Van Camp G.2001OTSC2
34Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis. (10600788)Grayeli A.B.... Silve C.1999PTH1R
35Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. (9752968)McKenna M.J.... Haines J.L.1998COL1A1, CD36
36Localization of a gene for otosclerosis to chromosome 15q25-q26. (9425236)Tomek M.S.... Smith R.J.1998OTSC1
37Antibodies to the minor cartilage collagen type IX in otosclerosis. (8172305)BujA-a J.... Burmester G.1994CD36

Expression for genes affiliated with Otosclerosis

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Otosclerosis

Pathways for genes affiliated with Otosclerosis

Sources:
34PharmGKB, 36QIAGEN, 20KEGG, 41Thomson Reuters, 10EMD Millipore
See all sources

Pathways related to otosclerosis according to GeneDecks:

(show top 50)    (show all 57)
idPathwayScoreTop Affiliating Genes
1ACE Inhibitor Pathway, Pharmacodynamics3410.5AGTR1
2Actin-Based Motility by Rho Family GTPases3610.1BMP4, BMP3
3Inhibition of Angiogenesis by TSP13610.1TGFB1, COL1A2, COL1A1, CD36
4ECM-receptor interaction2010.0COL1A2, COL1A1, CD36, RELN
5Glioma Invasiveness369.9BMP4, BMP3, BMP2
6Telomerase Components in Cell Signaling369.9BMP2, BMP3, BMP4
7Cell adhesion_Integrin inside-out signaling419.8COL1A1, COL1A2, AGT, AGTR1
8Transcription_Role of VDR in regulation of genes involved in osteoporosis419.8IL6, TNFRSF11B, PTH1R, COL1A1
9Transcription Role of VDR in regulation of genes involved in osteoporosis109.8COL1A1, PTH1R, TNFRSF11B, IL6
10eIF2 Pathway369.7BMP3, BMP4, IL6
11Factors Promoting Cardiogenesis in Vertebrates369.7BMP2, NOG, TGFB1
12Amoebiasis209.7TGFB1, COL1A2, COL1A1, IL6
13Development_Hedgehog and PTH signaling pathways in bone and cartilage development419.6PTH1R, COL1A1, COL1A2
14PTEN Pathway369.6COL1A2, COL1A1, BMP4, BMP3, BMP2
15Human Embryonic Stem Cell Pluripotency369.6TGFB1, NOG, BMP4, BMP3, BMP2
16NFAT Signaling and Lymphocyte Interactions369.5BMP2, BMP3, BMP4
17SMAD Signaling Network369.5TGFB1, BMP4, BMP3, BMP2
18Paxillin Interactions369.4BMP4, BMP3, BMP2
19Renin-angiotensin system209.3AGTR1, AGT, ACE
20TGF-beta signaling pathway209.2TGFB1, NOG, SP1, BMP4, BMP2
21Apoptotic Pathways in Synovial Fibroblasts369.2TGFB1, IL6, BMP4, BMP3, BMP2
22p53 Mediated Apoptosis369.2BMP2, BMP3, BMP4, IL6, TGFB1
23Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics349.2TGFB1, AGTR1, AGT, ACE
24Mitochondrial Apoptosis369.2TGFB1, IL6, BMP4, BMP3, BMP2
25NF-KappaB (p50-p65) Pathway369.2TGFB1, IL6, BMP4, BMP3, BMP2
26DHA Signaling369.1BMP2, BMP3, BMP4, IL6, TGFB1
27Glucocorticoid Receptor Signaling369.1TGFB1, IL6, BMP4, BMP3, BMP2
28NF-KappaB Family Pathway369.1TGFB1, IL6, BMP4, BMP3, BMP2
29mTOR Pathway369.1TGFB1, IL6, BMP4, BMP3, BMP2
30ERK5 Signaling369.1TGFB1, IL6, BMP4, BMP3, BMP2
31Cellular Apoptosis Pathway369.1BMP2, BMP3, BMP4, IL6, TGFB1
32PPAR Pathway369.1TGFB1, IL6, BMP4, BMP3, BMP2
33Nanog in Mammalian ESC Pluripotency369.1TGFB1, IL6, BMP4, BMP3, BMP2
34Nuclear Receptor Activation by Vitamin-A369.1TGFB1, IL6, BMP4, BMP3, BMP2
35Rac1 Pathway369.0TGFB1, IL6, BMP4, BMP3, BMP2
36p70S6K Signaling368.9BMP2, BMP3, BMP4, IL6, TGFB1
37IP3 Pathway368.9TGFB1, IL6, BMP4, BMP3, BMP2
38Phospholipase-C Pathway368.9TGFB1, COL1A2, COL1A1, IL6, BMP4, BMP3
39ILK Signaling368.9TGFB1, COL1A2, COL1A1, IL6, BMP4, BMP3
40MAPK Signaling368.9TGFB1, COL1A2, COL1A1, IL6, BMP4, BMP3
41Rho Family GTPases368.8TGFB1, COL1A2, COL1A1, IL6, BMP4, BMP3
42Activation of PKC through GPCR368.8TGFB1, IL6, BMP4, BMP3, BMP2
43Pancreatic Adenocarcinoma368.8TGFB1, NOTCH1, IL6, BMP4, BMP3, BMP2
44Epithelial Adherens Junctions368.8TGFB1, NOTCH1, IL6, BMP4, BMP3, BMP2
45ERK Signaling368.7TGFB1, COL1A2, COL1A1, IL6, BMP4, BMP3
46Estrogen Pathway368.5TGFB1, SP1, IL6, BMP4, BMP3, BMP2
47Intracellular Calcium Signaling368.5TGFB1, TRPM3, IL6, BMP4, BMP3, BMP2
48Molecular Mechanisms of Cancer368.4TGFB1, COL1A2, COL1A1, NOTCH1, IL6, BMP4
49JAK-STAT Pathway367.9TGFB1, AGTR1, AGT, SP1, IL6, BMP4
50Renin-Angiotensin Pathway367.7BMP2, TGFB1, AGTR1, AGT, ACE, IL6

Compounds for genes affiliated with Otosclerosis

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
See all sources

Compounds related to otosclerosis according to GeneDecks:

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
1teriparatide32 9 9 12.2PTH1R, TNFRSF11B, CD36
2titanium32 9.7TNFRSF11B, CD36, BMP4, BMP2
3hydroxyproline32 18 10.7TGFB1, COL1A1, TNFRSF11B, CD36
4pamidronate32 9 9 11.6CD36, IL6, TNFRSF11B
5procollagen32 9.6TGFB1, COL1A2, COL1A1, TNFRSF11B, CD36, BMP2
6captopril32 42 9 9 12.5ACE, AGT
7hydroxyapatite32 9.5TNFRSF11B, CD46, CD36, BMP3, BMP2
8zoledronic acid32 9.5TNFRSF11B, IL6, CD36, BMP2
9aliskiren32 9 9 11.3AGTR1, AGT, ACE
10matrigel32 9.3BMP2, CD36, PTH1R, NOTCH1
11saralasin32 42 10.2ACE, AGT, AGTR1
12ribonucleic acid32 9.2TGFB1, COL1A2, COL1A1, NOG, PTH1R, BMP4
13eprosartan32 9 9 11.2AGTR1, AGT, ACE
14pd12331932 9.2AGTR1, AGT, ACE, CD36
15benazepril32 9 9 11.2TGFB1, AGTR1, AGT, ACE
16olmesartan32 9 9 11.1AGTR1, AGT, ACE
17irbesartan32 9 9 11.1AGTR1, AGT, ACE, TNFRSF11B
18perindopril32 34 9 9 12.1TGFB1, AGTR1, AGT, ACE
19candesartan32 9 9 11.1TGFB1, AGTR1, AGT, ACE
201,25 dihydroxy vitamin d332 9.0TGFB1, COL1A1, SP1, PTH1R, TNFRSF11B, BMP2
21tgf beta132 9.0AGTR1, SP1, TNFRSF11B, IL6, CD36
22deoxyribonucleic acid32 9.0AGTR1, AGT, BMP4, BMP2
23ang ii32 9.0TGFB1, AGTR1, AGT, ACE, CD36
24losartan32 34 9 9 11.9TGFB1, AGTR1, AGT, ACE, CD36
25azathioprine32 34 9 9 11.8AGTR1, NOG, SP1, TNFRSF11B, BMP4, BMP2
26cysteine32 8.7SLC26A2, AGTR1, AGT, COL1A1, NOG, SP1
27lisinopril32 9 18 9 11.6ACE, AGT, AGTR1
28ly29400232 8.6TGFB1, AGT, COL1A2, NOTCH1, SP1, TNFRSF11B
29nifedipine32 9 9 10.4TGFB1, AGTR1, AGT, ACE, BMP2
30calcitriol32 42 9 18 9 12.3TGFB1, SP1, PTH1R, TNFRSF11B, IL6, CD36
31simvastatin32 34 42 9 18 9 13.3AGTR1, AGT, COL1A2, COL1A1, SP1, IL6
32cyclosporin a32 42 9.2TGFB1, AGTR1, AGT, TNFRSF11B, IL6, CD46
33forskolin32 42 9 9 11.1AGTR1, AGT, SP1, PTH1R, TNFRSF11B, BMP4
34thymidine32 18 8.9TGFB1, AGT, COL1A2, COL1A1, SP1, PTH1R
35actinomycin d32 7.9TGFB1, AGTR1, AGT, SP1, IL6, BMP4
36vitamin d32 7.8TGFB1, AGTR1, COL1A2, COL1A1, SP1, PTH1R
37genistein32 9 18 9 10.8AGTR1, AGT, NOTCH1, SP1, TNFRSF11B, IL6
38sb 20358032 42 8.8TGFB1, AGTR1, AGT, SP1, TNFRSF11B, IL6
39pge232 7.8TGFB1, AGT, COL1A1, SP1, PTH1R, TNFRSF11B
40phosphatidylinositol32 7.7AGTR1, AGT, COL1A2, NOTCH1, SP1, TNFRSF11B
41creatinine32 7.7TGFB1, AGTR1, AGT, ACE, TNFRSF11B, IL6
42cycloheximide32 7.6TGFB1, AGTR1, NOG, SP1, TNFRSF11B, IL6
43retinoic acid32 42 18 9.5TGFB1, COL1A1, NOTCH1, NOG, SP1, PTH1R
44estrogen32 7.1NOTCH1, COL1A1, COL1A2, AGTR1, TGFB1, SP1
45vegf32 7.1NOTCH1, COL1A1, AGT, AGTR1, TGFB1, NOG
46nitric oxide32 9 18 9 9.9AGTR1, AGT, ACE, NOTCH1, PTH1R, TNFRSF11B
47serine32 6.6NOTCH1, COL1A1, COL1A2, AGT, AGTR1, TGFB1
48tyrosine32 6.3AGTR1, AGT, COL1A2, NOTCH1, NOG, SP1
49dexamethasone32 42 34 9 9 10.2BMP2, SLC26A2, TGFB1, AGTR1, AGT, COL1A1
50calcium32 9 18 9 8.5NOG, NOTCH1, COL1A1, COL1A2, ACE, AGT

GO Terms for genes affiliated with Otosclerosis

Sources:
12Gene Ontology
See all sources

Cellular components related to otosclerosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.9COL1A1, COL1A2
2membrane-bounded vesicleGO:0319889.4BMP4, BMP3, BMP2
3extracellular regionGO:0055767.5TGFB1, AGT, COL1A2, COL1A1, NOTCH1, NOG
4extracellular spaceGO:0056156.6RELN, TGFB1, AGT, ACE, COL1A2, COL1A1

Biological processes related to otosclerosis according to GeneDecks:

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1face morphogenesisGO:06032510.3TGFB1, COL1A1, NOG
2positive regulation of NAD(P)H oxidase activityGO:03386410.1AGTR1, AGT
3embryonic skeletal joint morphogenesisGO:06027210.1NOG, BMP4
4chondrocyte differentiationGO:00206210.1TGFB1, PTH1R, BMP4
5blood vessel developmentGO:00156810.1COL1A1, COL1A2, AGT
6mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.1BMP4, BMP2
7BMP signaling pathway involved in heart inductionGO:00313010.0BMP4, BMP2
8regulation of blood vessel size by renin-angiotensinGO:00203410.0AGTR1, AGT
9negative regulation of myoblast differentiationGO:04566210.0TGFB1, NOTCH1, BMP4
10renin-angiotensin regulation of aldosterone productionGO:00201810.0AGTR1, AGT
11positive regulation of cellular protein metabolic processGO:03227010.0TGFB1, AGTR1, AGT
12positive regulation of macrophage derived foam cell differentiationGO:01074410.0AGTR1, AGT, CD36
13positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.0TGFB1, AGT, NOG, BMP4
14regulation of renal sodium excretionGO:0358139.9AGTR1, AGT
15positive regulation of reactive oxygen species metabolic processGO:20003799.9AGTR1, AGT, CD36
16telencephalon regionalizationGO:0219789.9BMP4, BMP2
17positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.9TGFB1, BMP4, BMP2
18embryonic skeletal system developmentGO:0487069.9COL1A1, NOG, SP1
19mononuclear cell proliferationGO:0329439.8TGFB1, ACE
20positive regulation of bone mineralizationGO:0305019.8BMP2, BMP4, TGFB1
21osteoblast differentiationGO:0016499.8BMP2, BMP4, NOG, COL1A1
22cellular response to growth factor stimulusGO:0713639.8BMP2, BMP4, COL1A1, TGFB1
23phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.7AGTR1, AGT, PTH1R
24regulation of odontogenesis of dentin-containing toothGO:0424879.7BMP4, BMP2
25positive regulation of odontogenesisGO:0424829.7TGFB1, BMP2
26epithelial to mesenchymal transitionGO:0018379.7TGFB1, NOTCH1, NOG, BMP2
27positive regulation of epithelial to mesenchymal transitionGO:0107189.7BMP2, NOTCH1, COL1A1, TGFB1
28regulation of renal output by angiotensinGO:0020199.7AGT, ACE
29response to corticosteroid stimulusGO:0319609.6COL1A1, NOTCH1
30negative regulation of cell cycleGO:0457869.6BMP2, BMP4, TGFB1
31platelet activationGO:0301689.5TGFB1, COL1A2, COL1A1, IL6, CD36
32branching involved in ureteric bud morphogenesisGO:0016589.5AGT, BMP4, BMP2
33positive regulation of cell migrationGO:0303359.5BMP2, NOTCH1, COL1A1, TGFB1
34positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.5AGT, IL6, CD36, RELN
35regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.4AGTR1, ACE
36regulation of vasoconstrictionGO:0192299.3AGTR1, AGT, ACE
37skeletal system developmentGO:0015019.3BMP2, BMP3, TNFRSF11B, PTH1R, NOG, COL1A1
38kidney developmentGO:0018229.0BMP4, ACE, AGT, AGTR1
39negative regulation of cell proliferationGO:0082858.8TGFB1, AGT, PTH1R, IL6, BMP4, BMP2
40positive regulation of transcription from RNA polymerase II promoterGO:0459448.0TGFB1, NOTCH1, NOG, SP1, IL6, BMP4
41positive regulation of transcription, DNA-dependentGO:0458938.0TGFB1, AGT, COL1A1, NOTCH1, SP1, IL6

Molecular functions related to otosclerosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:0707009.5BMP2, BMP3, BMP4
2acetyltransferase activator activityGO:0106989.4AGT, AGTR1
3bradykinin receptor bindingGO:0317119.2ACE, AGTR1
4cytokine activityGO:0051258.7TNFRSF11B, IL6, BMP4, BMP3, BMP2
5growth factor activityGO:0080838.5TGFB1, AGT, IL6, BMP4, BMP3, BMP2

Sources for Otosclerosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS