Aliases & Classifications for Auditory System Disease

MalaCards integrated aliases for Auditory System Disease:

Name: Auditory System Disease 12 15 17
Ear Diseases 43 71
Ear and Mastoid Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2742
ICD9CM 34 388.9
MeSH 43 D004427
NCIt 49 C26757
SNOMED-CT 67 25906001
UMLS 71 C0013447

Summaries for Auditory System Disease

Disease Ontology : 12 A sensory system disease that is characterized by auditory dysfunction located in the auditory system.

MalaCards based summary : Auditory System Disease, also known as ear diseases, is related to inner ear disease and nonsyndromic deafness, and has symptoms including hyperacusis, tinnitus and snoring. An important gene associated with Auditory System Disease is MIR96 (MicroRNA 96), and among its related pathways/superpathways is Gap junction trafficking. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include auditory system, bone and testes, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Wikipedia : 74 The auditory system is the sensory system for the sense of hearing. It includes both the sensory organs... more...

Related Diseases for Auditory System Disease

Diseases related to Auditory System Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 288)
# Related Disease Score Top Affiliating Genes
1 inner ear disease 34.2 SLC26A4 MYO7A MT-RNR1 MIR96 KCNQ4 GJB6
2 nonsyndromic deafness 31.9 USH1C TMC1 SLC26A4 PCDH15 OTOF MYO7A
3 branchiootic syndrome 1 31.5 TMC1 SLC26A4 OTOF MYO7A GJB2 CDH23
4 chronic purulent otitis media 31.4 DHRS2 COCH
5 otosclerosis 31.3 SLC26A4 MT-RNR1 GJB6 GJB2 COCH
6 cogan syndrome 31.2 HSPA4 GJB2 COCH
7 sensorineural hearing loss 31.0 USH1C TMC1 SLC26A4 PCDH15 OTOF MYO7A
8 labyrinthitis 30.7 SLC26A4 MYO7A GJB6 GJB2 COCH
9 peripheral vertigo 30.4 SLC26A4 GJB2 COCH
10 vestibular disease 30.3 SLC26A4 PCDH15 OTOF MYO7A MYO15A MT-RNR1
11 external ear disease 12.5
12 autoimmune inner ear disease 12.4
13 middle ear disease 12.3
14 otitis externa 11.2
15 mastoiditis 11.1
16 adhesive otitis media 11.1
17 superior semicircular canal dehiscence 11.1
18 deafness, autosomal dominant 1 10.8 MYO7A MYO15A GJB2
19 nonsyndromic hearing loss and deafness, dfna3 10.7 GJB6 GJB2
20 nonsyndromic hearing loss and deafness, dfnb1 10.7 GJB6 GJB3 GJB2
21 deafness, autosomal recessive 77 10.7 SLC26A4 GJB2 CDH23
22 pseudoainhum 10.7 GJB6 GJB3 GJB2
23 deafness, autosomal recessive 3 10.7 MYO7A MYO15A GJB2
24 deafness, autosomal dominant 24 10.7 GJB6 GJB2
25 hypotrichosis-deafness syndrome 10.7 GJB3 GJB2
26 deafness, autosomal recessive 1b 10.7 GJB6 GJB3 GJB2
27 deafness, autosomal dominant 56 10.7 SLC26A4 GJB2 COCH
28 deafness, autosomal dominant 3b 10.7 GJB6 GJB3 GJB2
29 deafness, autosomal dominant 67 10.7 OTOF MIR96 GJB2
30 deafness, autosomal recessive 6 10.7 USH1C TMC1
31 congenital cytomegalovirus 10.7 MT-RNR1 GJB6 GJB2
32 deafness, autosomal dominant 64 10.7 KCNQ4 GJB6 GJB2
33 retinitis pigmentosa-deafness syndrome 10.7 PCDH15 MYO7A CDH23
34 knuckle pads 10.7 GJB6 GJB3 GJB2
35 purulent labyrinthitis 10.7 GJB6 GJB2
36 knuckle pads, leukonychia, and sensorineural deafness 10.7 GJB6 GJB3 GJB2
37 drug-induced hearing loss 10.7 MYO7A GJB3 CDH23
38 viral labyrinthitis 10.7 GJB6 GJB2
39 auditory neuropathy spectrum disorder 10.7 OTOF MYO7A MT-RNR1
40 deafness, autosomal dominant 59 10.7 USH1C GJB6 GJB2
41 deafness, autosomal recessive 21 10.7 OTOF MYO15A GJB2
42 deafness, autosomal dominant 2a 10.7 KCNQ4 GJB2 COCH
43 deafness, autosomal recessive 91 10.7 GJB3 GJB2 COCH
44 usher syndrome, type ik 10.7 PCDH15 CDH23
45 deafness, autosomal recessive 79 10.7 TMC1 MYO15A GJB2
46 branchiootorenal syndrome 10.7 SLC26A4 GJB6 GJB2
47 deafness, x-linked 2 10.7 GJB6 GJB2
48 clouston syndrome 10.7 GJB6 GJB3 GJB2
49 deafness, autosomal dominant 3a 10.7 GJB6 GJB3 GJB2 COCH
50 x-linked nonsyndromic deafness 10.7 SLC26A4 MT-RNR1 GJB6 GJB2

Comorbidity relations with Auditory System Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Auditory System Disease:



Diseases related to Auditory System Disease

Symptoms & Phenotypes for Auditory System Disease

UMLS symptoms related to Auditory System Disease:


hyperacusis, tinnitus, snoring, earache, sore throat, coughing, vertigo/dizziness, equilibration disorder, plugged feeling

MGI Mouse Phenotypes related to Auditory System Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CDH23 ERCC6 GJB6 HSPA4 MYO15A MYO7A
2 hearing/vestibular/ear MP:0005377 9.8 CDH23 COCH ERCC6 GJB2 GJB3 GJB6
3 nervous system MP:0003631 9.44 CDH23 ERCC6 GJB2 GJB6 HSPA4 KCNQ4

Drugs & Therapeutics for Auditory System Disease

Drugs for Auditory System Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
3
carbamide peroxide Approved Phase 3 124-43-6
4 Immunologic Factors Phase 3
5 Vaccines Phase 3
6 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
7 BB 1101 Phase 3
8 Anesthetics Phase 3
9 Ancrod Approved, Investigational Phase 1, Phase 2 9046-56-4
10
Ciprofloxacin Approved, Investigational Phase 1, Phase 2 85721-33-1 2764
11
Dipivefrin Approved Phase 1, Phase 2 52365-63-6 3105
12
Simethicone Approved Phase 2 8050-81-5
13
Calcium carbonate Approved, Investigational Phase 2 471-34-1
14
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
15 Pharmaceutical Solutions Phase 2
16 Fibrinolytic Agents Phase 1, Phase 2
17 Anticoagulants Phase 1, Phase 2
18 Anti-Infective Agents Phase 1, Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
20 Topoisomerase Inhibitors Phase 1, Phase 2
21 Anti-Infective Agents, Local Phase 1, Phase 2
22 Cytochrome P-450 CYP1A2 Inhibitors Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Antiemetics Phase 2
25 HIV Protease Inhibitors Phase 2
26
protease inhibitors Phase 2
27 Gastrointestinal Agents Phase 2
28 Hormone Antagonists Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Autonomic Agents Phase 2
31 Antineoplastic Agents, Hormonal Phase 2
32 glucocorticoids Phase 2
33 Hormones Phase 2
34 Emollients Phase 2
35 Dermatologic Agents Phase 2
36 Calcium, Dietary Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2
38 Antirheumatic Agents Phase 2
39 Antibodies, Monoclonal Phase 1, Phase 2
40 Immunoglobulins Phase 1, Phase 2
41 Antibodies Phase 1, Phase 2
42
Pseudoephedrine Approved 90-82-4 7028
43
Ephedrine Approved 299-42-3 9294
44
Histamine Approved, Investigational 51-45-6 774
45
Phenylephrine Approved 59-42-7 6041
46
Oxymetazoline Approved, Investigational 1491-59-4 4636
47
tannic acid Approved 1401-55-4
48
Lidocaine Approved, Vet_approved 137-58-6 3676
49
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
50
Cocaine Approved, Illicit 50-36-2 5760 446220

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Use of Biodesign® Otologic Graft in Canal Wall Down Mastoidectomy: A Prospective, Randomized Trial Recruiting NCT03902938 Phase 4
2 PneuMum: A Randomised Controlled Trial of Pneumococcal Polysaccharide Vaccination for Aboriginal and Torres Strait Islander Mothers to Protect Their Babies From Ear Disease Unknown status NCT00310349 Phase 3
3 Efficacy and Safety of AM-111 in the Treatment of Acute Inner Ear Hearing Loss Completed NCT02561091 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
4 A Prospective, Randomized, Double Blind, Placebo-controlled, Multicenter, Phase 3 Efficacy and Safety Study of OTO-104 Given as a Single Intratympanic Injection in Subjects With Unilateral Meniere's Disease Recruiting NCT03664674 Phase 3 OTO-104;Placebo
5 Double Blind, Placebo-controlled, Randomized Clinical Trial to Evaluate the Efficacy and Safety of a Transtympanic Treatment of Tinnitus With Caroverine Suspended NCT01174979 Phase 3 Caroverin
6 Efficacy and Safety of AM-111 as Acute Sudden Sensorineural Hearing Loss Treatment Terminated NCT02809118 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
7 An Open-label Study of the Effects of Gevokizumab in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01950312 Phase 2 gevokizumab
8 Double-blind, Randomized, Placebo-controlled Study on Efficacy, Safety and Tolerability of Ancrod in Patients With Sudden Sensorineural Hearing Loss (SSHL) Completed NCT01621256 Phase 1, Phase 2 Ancrod;Saline solution
9 Bioequivalence of Ciprofloxacin 0.3%: a Randomized, Multicenter, Parallel, Comparative Study on the Safety and Efficacy of Ciprofloxacin 0.3% in a Standard Solution or Foam Solution, in Patients With Acute External Otitis. Completed NCT00872209 Phase 1, Phase 2 0.3% Ciprofloxacin Ear Drops;0.3% Ciprofloxacin Foam Otic Cipro
10 Safety and Efficacy of Once-Daily Dosing of Ciprodexa Otic Foam (Ciprofloxacin 0.3% and Dexamethasone 0.1% Otic Foam) Compared to Twice-Daily Dosing of Ciprodex (0.3% Ciprofloxacin and Dexamethasone 0.1% Otic Suspension) in Patients With Acute Otitis Externa Completed NCT01359098 Phase 2 Ciprodex Otic Suspension;Ciprodexa Otic Foam
11 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
12 Safety and Efficacy of Once-Daily Dosing of FoamOtic Cipro (0.3% Ciprofloxacin Otic Foam) Compared to Twice-Daily Dosing of Ciloxan (0.3% Ciprofloxacin Otic Solution) in Patients With Acute External Otitis Completed NCT01157819 Phase 2 0.3% Ciprofloxacin Ear Drops;FoamOtic Cipro
13 A Pilot Study of the Effect of Simethicone in Adult Subjects With a Common Cold on Eustachian Tube Dysfunction Completed NCT01312038 Phase 2 Simethicone;Placebo
14 A Phase II Placebo Controlled Study of the Effects of Anakinra (Kineret) in Subjects With Autoimmune Inner Ear Disease Disease (AIED) Recruiting NCT03587701 Phase 2 Anakinra 100Mg/0.67Ml Inj Syringe (Period 1);Placebo injection (Period 1);Anakinra 100Mg/0.67Ml Inj Syringe (Period 2);Placebo injection (Period 2)
15 Safety and Efficacy of Intratympanically Delivered Golimumab for Stabilization of Hearing in Patients With Autoimmune Inner Ear Disease: An Open-label Proof-of-concept Clinical Trial Terminated NCT01526174 Phase 1, Phase 2 Golimumab
16 An Open-label, Single-dose, Pharmacokinetic Study of SENS-218 in Healthy Adult, Caucasian Subjects. Completed NCT02772796 Phase 1 SENS-218
17 A Randomised Double Blind, Multiple Dose, Pharmacokinetic and Safety Study of SENS 401 in Healthy Subjects Completed NCT03071003 Phase 1 SENS-401;Placebo
18 Physiotherapy in Vestibular Disorders Unknown status NCT02746770
19 The Lolland-Falster Health Study Unknown status NCT02482896
20 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
21 Testing the Effectivness and Safety of the Wondertip Unknown status NCT03019380
22 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
23 Comparison of Clinical and Game-based Rehabilitation for Balance Impairments and Gaze Dysfunction in Clients With Vestibular Disorders Unknown status NCT02134444
24 Interest of the Cone-beam Computed Tomography in the Imagery of the Middle Ear Completed NCT02896764
25 Long-term Stability and Survival Rates of a Novel Oticon Medical Bone Conduction Device Implant Completed NCT01738490
26 The Effects of the Erchonia Hearing Laser on Word Recognition in Hearing Impaired Individuals Clinical Study Protocol Completed NCT00787189
27 To Evaluate Incidence of Acute Otitis Media in Children Aged < 6 Years in Five East European Countries Completed NCT01365390
28 Polish Mother and Child Cohort Study (REPRO_PL).Follow up of the Children. Completed NCT01861548
29 Risk Factors and Potential Causes of Eustachian Tube Dysfunction in Adults With Clinically Diagnosed Chronic Otitis Media With Effusion and/or Eustachian Tube Dysfunction Completed NCT01251432
30 Unilateral Peripheral Vestibular Dysfunction: Reeducation and Spatial Orientation. Completed NCT03171181
31 Clinical Study of Endolymphatic Sac Drainage With or Without Steroids for Intractable Meniere's Disease Completed NCT00500474
32 Middle Ear Pressure Regulation in Health and Disease -- Gas Supply, Demand and Middle Ear Gas Balance -- Specific Aim 2 Completed NCT01925729 pseudoephedrine;Oxymetazoline
33 Clinical Trial Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937
34 Computerized Game-based Vestibular Rehabilitation: Assessment of Feasibility and Motor Learning Recruiting NCT03589859
35 Improved Otologic Implants on Demand Intraoperatively With 3D CAD/CAM Autografts Recruiting NCT03297736
36 Implantation of the HiRes90K™ Advantage Cochlear Implant With HiFocus™ Mid-Scala and Development of a Combined Electric and Acoustic Stimulation Technology in Adults With Partial Deafness Recruiting NCT02189798
37 Influence of Central Versus Peripheral Vestibular Stimulation on Recovery Outcomes in Patients With Peripheral Vestibular Disorders Recruiting NCT04010435
38 Balloon Dilation of the Eustachian Tube in Children: a Randomized Side-controlled Clinical Trial Recruiting NCT03499015
39 Addressing Early Childhood Hearing Loss in Rural Alaska: A Community Randomized Trial Recruiting NCT03662256
40 Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss Active, not recruiting NCT02811549
41 Gas Supply, Demand and Middle Ear Gas Balance -- Project 1, Specific Aim 4, Protocol 3 Active, not recruiting NCT01974726
42 Feasibility of Stereotactic Image Guidance on the Lateral Skull Base Not yet recruiting NCT03852329
43 Evaluation of Hearing Preservation in Adults With Partial Low-Frequency Hearing Implanted With the HiFocus™ Mid-Scala Electrode Terminated NCT01959152
44 The Use of the PoNS™ Device in the Treatment of Blunt and Blast Induced Vestibular Disorders Withdrawn NCT01771575

Search NIH Clinical Center for Auditory System Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Sulfacetamide
Sulfacetamide Sodium

Cochrane evidence based reviews: ear diseases

Genetic Tests for Auditory System Disease

Anatomical Context for Auditory System Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Auditory System Disease:

19
Auditory System

MalaCards organs/tissues related to Auditory System Disease:

40
Bone, Testes, Eye, Skin, T Cells, Pons, Bone Marrow

Publications for Auditory System Disease

Articles related to Auditory System Disease:

(show top 50) (show all 797)
# Title Authors PMID Year
1
The Physiologic Role of Corticosteroids in Menière's Disease: An Update on Glucocorticoid-mediated Pathophysiology and Corticosteroid Inner Ear Distribution. 61
31821251 2020
2
Electrophysiological and inner ear MRI findings in patients with bilateral vestibulopathy. 61
32036409 2020
3
A 3D deep supervised densely network for small organs of human temporal bone segmentation in CT images. 61
32004922 2020
4
Endoscopic Removal of Huge Cholesterol Granuloma in the Maxillary Sinus Confused With Odontogenic Keratocyst. 61
31895863 2019
5
[The research progress of keratin's roles in the pathology of middle ear cholesteatoma]. 61
31795552 2019
6
CEDRA: A Tool to Help Consumers Assess Risk for Ear Disease. 61
30946136 2019
7
Opportunities and challenging issues of nanomaterials in otological fields: an occupational health perspective. 61
31609676 2019
8
Expression of aquaporins in inner ear disease. 61
31593306 2019
9
Recovery of ocular and cervical vestibular evoked myogenic potentials after treatment of inner ear diseases. 61
31070081 2019
10
Subversion of host immune responses by otopathogens during otitis media. 61
31075181 2019
11
Cochlear Glucocorticoid Receptor and Serum Corticosterone Expression in a Rodent Model of Noise-induced Hearing Loss: Comparison of Timing of Dexamethasone Administration. 61
31477769 2019
12
Poly-Lactic Acid-Based Biopolymer Formulations Are Safe for Sustained Intratympanic Dexamethasone Delivery. 61
31295207 2019
13
The future of otology. 61
31462337 2019
14
Automated diagnosis of ear disease using ensemble deep learning with a big otoendoscopy image database. 61
31272902 2019
15
Comparison of 3- vs 2-Dimensional Endoscopy Using Eye Tracking and Assessment of Cognitive Load Among Surgeons Performing Endoscopic Ear Surgery. 61
31343675 2019
16
miR‑10b‑3p, miR‑8112 and let‑7j as potential biomarkers for autoimmune inner ear diseases. 61
31115534 2019
17
Therapeutic Effect of Intratympanic Injection of Dexamethasone plus Hyaluronic Acid on Patients with Meniere's disease. 61
31384587 2019
18
Role of Biofilms in Children with Chronic Adenoiditis and Middle Ear Disease. 61
31086039 2019
19
Detecting middle ear fluid using smartphones. 61
31092691 2019
20
Risk Factors for Tinnitus in 37,692 Patients Followed in General Practices in Germany. 61
30870350 2019
21
Pathogen reservoir hypothesis investigated by analyses of the adenotonsillar and middle ear microbiota. 61
30599284 2019
22
Using Machine Learning to Predict Sensorineural Hearing Loss Based on Perilymph Micro RNA Expression Profile. 61
30833669 2019
23
Functionalisation of Silicone by Drug-Embedded Chitosan Nanoparticles for Potential Applications in Otorhinolaryngology. 61
30871195 2019
24
[Study on the relationship between age-related hearing loss and cognitive impairment]. 61
30776862 2019
25
Contributing factors to high prevalence of hearing impairment in the Elias Motsoaledi Local Municipal area, South Africa: A rural perspective. 61
30843412 2019
26
Preschool children in Danish out-of-hours primary care: a one-year descriptive study of face-to-face consultations. 61
30808295 2019
27
Defining the Inflammatory Microenvironment in the Human Cochlea by Perilymph Analysis: Toward Liquid Biopsy of the Cochlea. 61
31293504 2019
28
[Clinical features and treatment of multi-canal benign paroxysmal positional vertigo]. 61
32027319 2019
29
The Impact of using the term "Diabetic Ear" for the patients with Skull Base Osteomyelitis. 61
30697101 2019
30
Evaluation of a transtympanic delivery system in Mus musculus for extended release steroids. 61
29329746 2019
31
Sleep Deprivation Modifies Noise-Induced Cochlear Injury Related to the Stress Hormone and Autophagy in Female Mice. 61
31849600 2019
32
30-day unplanned readmission rate in otolaryngology patients: A population-based study in Thuringia, Germany. 61
31622434 2019
33
Is oval window transport a royal gate for nanoparticle delivery to vestibule in the inner ear? 61
29499347 2019
34
Immunohistochemical localization of Nrf2 in the human cochlea. 61
29981724 2018
35
A comparison of systemic and local dexamethasone administration: From perilymph/cochlea concentration to cochlear distribution. 61
30223171 2018
36
Middle-ear disease in children with cleft palate. 61
29764722 2018
37
Identification and Management of Middle Ear Disorders in a Rural Cleft Care Program: A Telemedicine Approach. 61
30452749 2018
38
The role of auditory evoked potentials and otoacoustic emissions in early detection of hearing abnormalities in Behçet's disease patients. A case control study. 61
29745880 2018
39
Metagenomics Analysis of Bacterial Population of Tympanosclerotic Plaques and Cholesteatomas. 61
29688828 2018
40
Prevalence of ear disease and associated hearing loss among primary school students in the Solomon Islands: Otitis media still a major public health issue. 61
30173991 2018
41
Otopathology in the United States: History, Current Situation, and Future Perspectives. 61
30106850 2018
42
Analysis of chemosensory function in patients with chronic Eustachian tube dysfunction prior to and after balloon dilatation. 61
29571548 2018
43
A Retrospective Estimate of Ear Disease Detection Using the "Red Flags" in a Clinical Sample. 61
29498954 2018
44
Screening of genes associated with inflammatory responses in the endolymphatic sac reveals underlying mechanisms for autoimmune inner ear diseases. 61
30210597 2018
45
Feasibility of preservation of chorda tympani nerve during noninflammatory ear surgery: A systematic review. 61
29086423 2018
46
Hearing loss in autoimmune disorders: Prevalence and therapeutic options. 61
29729446 2018
47
Impact of indian public health standards for rural health care facilities on national programme for control of deafness in India: The results of a cohort study. 61
30234053 2018
48
World Health Organization and Its Initiative for Ear and Hearing Care. 61
29486926 2018
49
Comparison of Video Head Impulse Test and Caloric Reflex Test in advanced unilateral definite Menière's disease. 61
29274769 2018
50
Canalostomy As a Surgical Approach to Local Drug Delivery into the Inner Ears of Adult and Neonatal Mice. 61
29889202 2018

Variations for Auditory System Disease

ClinVar genetic disease variations for Auditory System Disease:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(7;19)(q32;q13.1)dnTranslocation Pathogenic 267828
2 subset of 47 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18894835-21505417)copy number loss Pathogenic 523274 22:18894835-21505417
3 46;XY;inv(2)(q11.2q24.2)dninversion Uncertain significance 267939

Expression for Auditory System Disease

Search GEO for disease gene expression data for Auditory System Disease.

Pathways for Auditory System Disease

Pathways related to Auditory System Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Auditory System Disease

Cellular components related to Auditory System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 USH1C TMC1 SLC26A4 PCDH15 OTOF KCNQ4
2 photoreceptor outer segment GO:0001750 9.43 USH1C PCDH15 MYO7A
3 gap junction GO:0005921 9.33 GJB6 GJB3 GJB2
4 stereocilium tip GO:0032426 9.32 USH1C TMC1
5 connexin complex GO:0005922 9.13 GJB6 GJB3 GJB2
6 stereocilium GO:0032420 9.02 USH1C PCDH15 MYO7A MYO15A CDH23

Biological processes related to Auditory System Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 SLC26A4 KCNQ4 GJB6 GJB3 GJB2
2 inner ear morphogenesis GO:0042472 9.73 USH1C MYO7A MYO15A KCNQ4
3 locomotory behavior GO:0007626 9.71 PCDH15 MYO15A CDH23
4 inner ear development GO:0048839 9.71 PCDH15 MYO7A GJB6 GJB2
5 photoreceptor cell maintenance GO:0045494 9.67 USH1C PCDH15 ERCC6 CDH23
6 cell communication GO:0007154 9.63 GJB6 GJB3 GJB2
7 inner ear receptor cell stereocilium organization GO:0060122 9.56 USH1C PCDH15 MYO7A CDH23
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.55 TMC1 PCDH15
9 auditory receptor cell stereocilium organization GO:0060088 9.52 PCDH15 MYO7A
10 gap junction assembly GO:0016264 9.51 GJB6 GJB2
11 inner ear auditory receptor cell differentiation GO:0042491 9.5 USH1C PCDH15 MYO7A
12 cell communication by electrical coupling GO:0010644 9.49 GJB6 GJB2
13 gap junction-mediated intercellular transport GO:1990349 9.48 GJB6 GJB2
14 sensory perception of light stimulus GO:0050953 9.46 USH1C PCDH15 MYO7A CDH23
15 sensory perception of sound GO:0007605 9.4 USH1C TMC1 SLC26A4 PCDH15 OTOF MYO7A
16 equilibrioception GO:0050957 9.26 USH1C PCDH15 MYO7A CDH23

Molecular functions related to Auditory System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.33 PCDH15 MYO7A ERCC6
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
3 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Auditory System Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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