MCID: CHL069
MIFTS: 58

Cholesteatoma malady

Summaries for Cholesteatoma

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Cholesteatoma is a type of skin cyst located in the middle ear. it can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. the hallmark symptom is a painless discharge from the ear.hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. surgery can stop infections and prevent complications.   last updated: 12/30/2009

MalaCards: Cholesteatoma, also known as secondary acquired cholesteatoma, is related to middle ear cholesteatoma and otitis media. An important gene associated with Cholesteatoma is DEFB4A (defensin, beta 4A), and among its related pathways are Rheumatoid arthritis and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds estrogen and pge2 have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are craniofacial and integument.

Wikipedia:63 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Aliases & Classifications for Cholesteatoma

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH
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Aliases & Descriptions:

cholesteatoma 8 42 10 44 60
secondary acquired cholesteatoma 42
primary acquired cholesteatoma 42
cholesteatoma, unspecified 8
congenital cholesteatoma 42


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Disease Ontology8 DOID:869
ICD9CM27 385.30
NCIt39 C2944
MeSH34 D002781

Related Diseases for Cholesteatoma

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17GeneCards, 18GeneDecks
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Diseases related to Cholesteatoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 197)
idRelated DiseaseScoreTop Affiliating Genes
1middle ear cholesteatoma31.6S100A8, TGFA, KRT13, TNFSF11, IVL, DEFB4A
2otitis media31.1DEFB1
3keratosis30.1FLG, IVL, KRT16, KRT10
4cleft palate30.1FGFR2, TGFA
5squamous cell carcinoma30.0LGALS1, LGALS8, TGFA
6cleft lip29.8TGFA
7congenital ichthyosiform erythroderma29.8FLG, IVL, KRT10
8craniopharyngioma29.8LGALS1
9suppurative otitis media10.6
10cholesteatoma of attic10.5
11cholesteatoma of external ear10.4
12maxillary sinus cholesteatoma10.3
13facial paralysis10.2
14labyrinthitis10.2
15tympanosclerosis10.2
16intracranial abscess10.0
17sensorineural hearing loss10.0
18purulent labyrinthitis10.0
19lateral sinus thrombosis10.0
20fibrous dysplasia10.0
21cervicitis10.0
22chronic meningitis10.0
23meningitis10.0
24middle ear carcinoma10.0
25middle ear disease10.0
26skin disease10.0IL1A, MMP9
27leukoplakia10.0KRT13, DEFB4A, IVL, FLG
28lichen planus10.0FLG, IVL, DEFB4A, KRT16, KRT13, KRT10
29psoriasis10.0S100A8, FLG, IVL, DEFB4A, FGF7, IL1A
30keratoacanthoma10.0IVL, KRT10
31esophagitis10.0S100A8
32periodontitis10.0TNFRSF11B, IL1A, MMP9
33duodenal ulcer10.0S100A8, DEFB1, DEFB4A
34periodontal disease10.0MMP1, TNFSF11
35dermatitis10.0FLG, IVL, IL1A, KRT16
36gingivitis10.0TNFSF11, TNFRSF11B, IL1A, MMP1
37nonepidermolytic palmoplantar keratoderma10.0TGFA, KRT10, KRT16, DEFB4A, FLG
38sarcoma10.0FGF7, LGALS1
39primary hyperoxaluria10.0TNFRSF11B
40cystic fibrosis10.0S100A8, TNFRSF11B, DEFB1, DEFB4A, FGF7, KRT13
41adenocarcinoma10.0S100A8, TNFSF11, IVL, FGFR2, FGF7, MMP9
42duodenitis10.0S100A8
43adenoma10.0TGFA, LGALS1, KRT13, S100A8
44epidermolysis bullosa10.0FLG
45pneumonia10.0FGF7, DEFB4A, DEFB1, S100A8
46asthma10.0S100A8, FLG, DEFB1, DEFB4A, CHKB, MMP9
47bowen syndrome10.0KRT10, KRT16, IVL, FLG
48synovitis10.0TNFSF11, TNFRSF11B, IL1A, MMP1
49hepatocellular carcinoma10.0S100A8, TNFSF11, FGFR2, FGF2, MMP9, KRT13
50clear cell acanthoma10.0IVL

Graphical network of the top 20 diseases related to Cholesteatoma:



Diseases related to cholesteatoma

Clinical Features for Cholesteatoma

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Drugs & Therapeutics for Cholesteatoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cholesteatoma

Drug clinical trials:

Search ClinicalTrials for Cholesteatoma

Search NIH Clinical Center for Cholesteatoma

Search CenterWatch for Cholesteatoma

Genetic Tests for Cholesteatoma

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Anatomical Context for Cholesteatoma

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32MalaCards
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MalaCards organs/tissues related to Cholesteatoma:

32
Bone, Skin, Brain, Endothelial, Placenta, Monocytes, Temporal lobe

Animal Models for Cholesteatoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cholesteatoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.6TGFA, TNFSF11, TNFRSF11B, FLG, FGFR2, KRT16
2MP:001077110.5TNFSF11, FGFR2, MMP9, KRT16, LGALS1, TGFA
3MP:000537710.5KRT10, FLG, TNFRSF11B
4MP:000538710.4TNFSF11, TNFRSF11B, FLG, DEFB1, FGFR2, FGF7
5MP:001076810.3FLG, TNFRSF11B, TNFSF11, S100A8, DEFB1, FGFR2
6MP:000539010.1TNFSF11, TNFRSF11B, CHKB, FGFR2, FGF2, TGFA

Publications for Cholesteatoma

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50PubMed
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Articles related to Cholesteatoma:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
Cholesteatoma fibroblasts promote epithelial cell proliferation through overexpression of epiregulin. (23826119)
2013
2
The role of p21 and p53 proteins in congenital cholesteatoma. (23324739)
2013
3
Surgical outcomes of early congenital cholesteatoma: Minimally invasive transcanal approach. (23877960)
2013
4
Canal wall up tympanoplasty for middle ear cholesteatoma in adults: modeling cartilage. (22226673)
2012
5
Acquired cholesteatoma: classification and outcomes. (21725267)
2011
6
Paediatric ENT surgery. Grommets and cholesteatoma. (21303883)
2011
7
Cholesteatoma in patients with congenital external auditory canal anomalies: retrospective review. (21846418)
2011
8
Expression of EGFR and Microvessel Density in Middle Ear Cholesteatoma. (21716952)
2011
9
Fusion of MRIs and CT scans for surgical treatment of cholesteatoma of the middle ear in children. (20855680)
2010
10
Congenital cholesteatoma of mastoid region manifesting as acute mastoiditis: case report and literature review. (20003591)
2010
11
Congenital cholesteatoma of the infratemporal fossa. (19646301)
2010
12
Acquired cholesteatoma pathogenesis: stepwise explanations. (20156369)
2010
13
Psoriasin (S100A7), an antimicrobial peptide, is increased in human middle ear cholesteatoma. (19707901)
2009
14
Residual cholesteatoma: incidence and localization in canal wall down tympanoplasty with soft-wall reconstruction. (18559735)
2008
15
Cochleovestibular anomalies in children with cholesteatoma. (18091330)
2008
16
Effect of trans-retinoic acid in the inhibition of cholesteatoma in guinea pigs. (18392502)
2008
17
Facial canal dehiscence in the initial operation for chronic otitis media without cholesteatoma. (18242032)
2008
18
External auditory canal cholesteatoma: reassessment of and amendments to its categorization, pathogenesis, and treatment in 34 patients. (18758389)
2008
19
Expression patterns of Ki-67 and telomerase activity in middle ear cholesteatoma. (17255888)
2007
20
Canal wall down tympanomastoidectomy: the 'on-disease' approach for retraction pockets and cholesteatoma. (17295937)
2007
21
Facial paralysis associated with cholesteatoma: a review of 13 cases. (17414046)
2007
22
Cholesteatoma of the renal pelvis diagnosed by computerized tomography. (17382771)
2007
23
Incidence of dehiscence of the facial nerve in 416 cases of cholesteatoma. (17159491)
2007
24
Some markers of proliferative activity in cholesteatoma epithelium in adults. (16865065)
2006
25
Expression of the gap junction proteins connexin 26 and connexin 43 in human middle ear cholesteatoma. (16428189)
2006
26
Iatrogenic cholesteatoma in children with OME in a training program. (16822553)
2006
27
Identification of specific gene expression profiles in fibroblasts derived from middle ear cholesteatoma. (16847181)
2006
28
Middle ear carcinoma originating from a primary acquired cholesteatoma: a case report. (15699729)
2005
29
Express of transforming growth factor alpha and beta1 in cholesteatoma tissue]. (16874966)
2005
30
3D micro-CT images of ossicles destroyed by middle ear cholesteatoma. (15224863)
2004
31
The expression of matrix metalloproteinase-9 and tumor necrosis factor-alpha in cholesteatoma]. (15499988)
2004
32
Cholesteatoma epithelium is characterized by increased expression of Ki-67, p53 and p21, with minimal apoptosis. (12737294)
2003
33
Expression of transforming growth factor-beta 1 matrix metalloproteinase-1 and its inhibitor in human middle ear cholesteatoma]. (12768723)
2002
34
A study on expression of tumor necrosis factor alpha in middle ear cholesteatoma and its effect on bone destruction]. (12541866)
2001
35
Stromal expression of matrix metalloprotease-9 in middle ear cholesteatomas. (10993447)
2000
36
Roles of cytokines and cell cycle regulating substances in proliferation of cholesteatoma epithelium. (10401849)
1999
37
Aural cholesteatoma: role of tumor necrosis factor-alpha in bone destruction. (10100515)
1999
38
Altered regulation of cell surface peptidases in human cholesteatoma. (9018259)
1997
39
Clinical and biochemical studies of bone destruction in cholesteatoma. (8763371)
1996
40
Audiometric findings in children with chronic suppurative otitis media without cholesteatoma. (8735405)
1996
41
Expression and localization of mRNA for epidermal growth factor and epidermal growth factor receptor in human cholesteatoma. (7976315)
1994
42
Integrin expression in middle ear cholesteatoma. (7515549)
1994
43
Possible role of interleukin 1 alpha and interleukin 1 beta in the pathogenesis of cholesteatoma of the middle ear. (1384343)
1992
44
Inflammatory middle ear disease of the dog: the clinical and pathological features of cholesteatoma, a complication of otitis media. (2063523)
1991
45
Keratinization of middle ear cholesteatomas. II. A histochemical study of epidermal transglutaminase substrates. (1697471)
1990
46
Expression of involucrin in human middle ear cholesteatoma. (2683803)
1989
47
Mechanism of bone destruction due to middle ear cholesteatoma as revealed by laser-Raman spectrometry. (3177765)
1988
48
Middle ear cholesteatoma: an animal model. (2416228)
1985
49
Another etiology of middle ear cholesteatoma. (5114953)
1971
50
Pathogenesis of middle-ear cholesteatoma arising from Shrapnell's membrane (attic cholesteatoma). (14923298)
1952

Genetic Variations for Cholesteatoma

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Expression for genes affiliated with Cholesteatoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholesteatoma

Search GEO for disease gene expression data for Cholesteatoma.

Pathways for genes affiliated with Cholesteatoma

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29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 4Cell Signaling Technology
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Pathways related to Cholesteatoma according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5TNFSF11
2
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.5TNFSF11, TNFRSF11B, IL1A
310.5TNFRSF11B, TNFSF11
4
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10.5IL1A, FGFR2
510.5MMP9, FGF2, FGFR2
610.5IVL, MMP1, MMP9
7
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10.5FGFR2, FGF7, IL1A
8
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10.5IL1A, FGF2, FGF7, FGFR2, DEFB4A, DEFB1
910.5FGFR2, FGF2, MMP9, TGFA
10
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10.5MMP9, FGF2, FGF7, FGFR2
11
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10.4FGFR2, FGF7, FGF2
12
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10.4FGFR2, FGF7, FGF2
13
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10.4TNFSF11, FGFR2, FGF7, FGF2, IL1A, TGFA
14
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10.4TNFSF11, FGFR2, FGF7, FGF2, IL1A, TGFA
15
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10.4TGFA, IL1A, FGF2, FGF7, FGFR2
16
Hide members
10.4FGFR2, FGF7, FGF2, MMP1, MMP9, TGFA
17
Hide members
10.4TGFA, MMP9, MMP1, FGF2, FGF7, FGFR2
1810.4TGFA, MMP9, MMP1, FGF2, FGF7, FGFR2

Compounds for genes affiliated with Cholesteatoma

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Cholesteatoma according to GeneCards/GeneDecks:

(show top 50)    (show all 153)
idCompoundScoreTop Affiliating Genes
1estrogen4410.9IVL, CHKB, DEFB4A
2pge24410.9MMP9
3dexamethasone44 49 28 1113.9DEFB4A, FGF2, MMP9, LGALS1, TNFRSF11B, DEFB1
4rantes4410.9FGF7, DEFB4A, S100A8, IL1A
5vitamin d4410.9TNFSF11, FGFR2, IVL, CHKB, TGFA, FGF7
6calcitriol44 59 11 2413.9KRT10, KRT16, MMP1, IL1A, FGF2, IVL
7paraffin4410.9TGFA, S100A8, TNFSF11, IVL, DEFB4A, CHKB
8ns 39844 5911.9MMP9, FGF2, IL1A, MMP1, TNFRSF11B, TNFSF11
9genistein44 28 59 2 11 2415.9DEFB4A, FGFR2, FGF7, FGF2, IL1A, MMP1
10serine4410.9S100A8, TNFSF11, FGF2, TNFRSF11B, FLG, IVL
11dithranol4410.9FLG, KRT10, KRT16, IVL, TGFA
12heparin44 28 11 2413.9LGALS1, IL1A, FGF7, TNFSF11, TNFRSF11B, DEFB4A
13retinoic acid44 2411.9S100A8, TNFRSF11B, FLG, FGF2, IVL, DEFB1
14steroid4410.9FLG, TNFSF11, TGFA, KRT10, FGF7, FGFR2
15cyclosporin a44 28 5912.9FGF2, TNFRSF11B, IVL, CHKB, TGFA, FGF7
161,25 dihydroxy vitamin d34410.8TNFSF11, FGF7, KRT10, KRT16, IVL, TNFRSF11B
17cysteine4410.8TNFSF11, TGFA, MMP9, MMP1, FLG, FGF7
18heparan sulfate44 2411.8TNFSF11, TNFRSF11B, IVL, DEFB1, FGFR2, FGF2
19calcipotriol44 59 28 1113.8KRT10, FLG, IVL, IL1A, KRT16
20pd 98,0594410.8FGF2, IVL, TGFA, TNFSF11, MMP9, MMP1
21methotrexate44 49 1112.8TGFA, S100A8, TNFRSF11B, IVL, CHKB, MMP1
22sb 20358044 5911.8TNFSF11, IL1A, MMP9, TNFRSF11B, MMP1, FGF2
23ascorbic acid44 2411.8IL1A, TNFRSF11B, FLG, FGF2, TGFA, TNFSF11
24vegf4410.8FGF2, IL1A, TGFA, IVL, TNFRSF11B, TNFSF11
25procollagen4410.8TNFSF11
26hydrocortisone44 2 59 1113.8MMP1, IVL, TNFRSF11B, TGFA, FGF7, IL1A
27bromodeoxyuridine4410.8TGFA, KRT10, FGF2, FGF7, FGFR2, IVL
28celecoxib44 59 28 49 11 2415.8FGF7, TNFRSF11B, FGF2, MMP1, MMP9, TNFSF11
29calcium44 49 11 2413.8CHKB, S100A8, TNFSF11, TNFRSF11B, FLG, IVL
30glycosaminoglycan4410.8IL1A, MMP9, FGF2, FGF7, MMP1, FGFR2
31tyrosine4410.8FGF7, FGFR2, S100A8, TNFSF11, DEFB4A, IVL
32testosterone44 59 11 2413.8TNFSF11, TGFA, MMP1, MMP9, TNFRSF11B, IL1A
33agar4410.7LGALS1, TGFA, FGF2, FGF7, FGFR2, CHKB
34retinoid4410.7IVL, MMP1, LGALS1, S100A8, KRT10, KRT16
35gf 109203x44 5911.7IVL, FGF2, FLG, MMP1, KRT10, TGFA
36urea44 11 2412.7CHKB, FLG, S100A8, TNFRSF11B, TNFSF11, IVL
37infliximab44 49 1112.7MMP1, FGF2, FLG, TNFRSF11B, TNFSF11
3812-o-tetradecanoylphorbol 13-acetate4410.7MMP1, FGFR2, IVL, TGFA, MMP9, IL1A
39creatinine4410.7TNFSF11, MMP9, MMP1, IL1A, CHKB, TNFRSF11B
40polysaccharide4410.7IVL, LGALS1, TGFA, FGFR2, CHKB, FGF2
41tgf beta14410.7FGF2, MMP1, TNFRSF11B, FGF7, TGFA, MMP9
42nitric oxide44 11 2412.6KRT16, TNFRSF11B, IL1A, CHKB, S100A8, FLG
43phosphatidylinositol4410.6TNFSF11, TGFA, LGALS8, MMP9, FGF7, FGF2
44doxycycline44 1111.6MMP1, TNFSF11, FGF7
45rapamycin4410.5MMP1, TNFSF11, FGF7, IL1A, LGALS1, TGFA
46cycloheximide4410.5FGF7
47hematoxylin4410.5KRT10, MMP1, IVL
48progesterone44 59 28 11 2414.4FGF7, FGFR2, TNFRSF11B, TGFA, KRT10, MMP1
49nicotine44 49 28 1113.4MMP1, MMP9, IL1A, FGF2, IVL, FLG
50prostaglandin4410.2TNFRSF11B, IL1A, MMP1, TNFSF11, MMP9, TGFA

GO Terms for genes affiliated with Cholesteatoma

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16Gene Ontology
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Cellular components related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.5KRT10, KRT16, FLG
2extracellular regionGO:00557610.4MMP9, S100A8, TNFSF11, TNFRSF11B, DEFB1, DEFB4A
3extracellular spaceGO:00561510.3S100A8, TNFSF11, TNFRSF11B, FGF2, IL1A, MMP9
4proteinaceous extracellular matrixGO:00557810.2TNFRSF11B, MMP1, MMP9, LGALS1

Biological processes related to Cholesteatoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1plasma cell differentiationGO:00231710.7LGALS1, LGALS8
2positive regulation of cell divisionGO:05178110.7TGFA, IL1A, FGF2, FGF7, FGFR2
3innate immune responseGO:04508710.7S100A8, DEFB1, DEFB4A, FGFR2, FGF7, FGF2
4positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:06050110.7FGF7, FGFR2
5positive regulation of keratinocyte migrationGO:05154910.7MMP9, FGF7
6epidermal growth factor receptor signaling pathwayGO:00717310.6FGFR2, FGF7, FGF2, TGFA
7positive regulation of epithelial cell proliferationGO:05067910.6FGFR2, FGF7, TGFA
8keratinocyte differentiationGO:03021610.6FLG, IVL, KRT10
9wound healingGO:04206010.5S100A8, FGF2, TGFA
10epidermis developmentGO:00854410.5KRT13, KRT16, FGF7
11branching involved in salivary gland morphogenesisGO:06044510.5FGF7, FGFR2
12extracellular matrix organizationGO:03019810.4TNFRSF11B, FGF2, MMP1, MMP9
13organ morphogenesisGO:00988710.2FGF2, FGFR2, TNFSF11

Molecular functions related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00512510.5IL1A, FGF2, TNFRSF11B, TNFSF11

Products for genes affiliated with Cholesteatoma

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  • Antibodies
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  • Lysates
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Sources for Cholesteatoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet