Sensorineural Hearing Loss disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SNS001 MIFTS: 59	Sensorineural Hearing Loss Categories: Ear diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Sensorineural Hearing Loss

MalaCards integrated aliases for Sensorineural Hearing Loss:

Name: Sensorineural Hearing Loss ¹¹ ⁷⁵ ¹⁴ ¹⁶ ⁷¹

Sensory Hearing Loss ¹¹ ⁵³ ⁷¹

Sensorineural Hearing Loss Disorder ²⁸ ⁵

Hearing Loss, Sensorineural ⁴³ ³⁸

Perceptive Hearing Loss or Deafness ¹¹

Hearing Loss, High-Frequency ⁷¹

High Frequency Hearing Loss ¹¹

High-Frequency Hearing Loss ¹¹

Hearing Loss High-Frequency ⁵³

Hearing Loss Sensorineural ⁵³

High Frequency Deafness ¹¹

Perceptive Hearing Loss ¹¹

Sensorineural Deafness ¹¹

Deafness Sensorineural ⁵³

Hearing Loss, Central ⁷¹

Central Hearing Loss ¹¹

Perceptive Deafness ¹¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

Sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side

Sensorineural hearing loss, unspecified

External Ids:

Disease Ontology ¹¹ DOID:10003

ICD9CM ³⁴ 389.1

MeSH ⁴³ D006319

NCIt ⁴⁹ C26739

SNOMED-CT ⁶⁸ 60700002

ICD10 ³¹ H90.3 H90.4 H90.5

EFO ¹⁶ EFO_1001176

UMLS ⁷¹ C0018776 C0018780 C0018784 more

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Summaries for Sensorineural Hearing Loss

Disease Ontology: ¹¹ An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.

MalaCards based summary: Sensorineural Hearing Loss, also known as sensory hearing loss, is related to deafness, autosomal dominant 1, with or without thrombocytopenia and deafness and myopia, and has symptoms including tinnitus An important gene associated with Sensorineural Hearing Loss is GJB2 (Gap Junction Protein Beta 2). The drugs Lidocaine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are shRNA abundance <= 50% and nervous system

Wikipedia: ⁷⁵ Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner... more...

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Related Diseases for Sensorineural Hearing Loss

Diseases in the Sensorineural Hearing Loss family:

Nonsyndromic Hereditary Sensorineural Hearing Loss

Diseases related to Sensorineural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1829)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, autosomal dominant 1, with or without thrombocytopenia	33.5	WFS1 MYO7A GJB2
2	deafness and myopia	33.2	MYO7A GJB2
3	autosomal recessive non-syndromic sensorineural deafness type dfnb	33.2	TMIE MYO7A MYO3A KARS1 GJB2 CLDN14-AS1
4	autosomal dominant non-syndromic sensorineural deafness type dfna	33.1	WFS1 MYO7A GJB2
5	deafness, autosomal dominant 22	33.1	MYO7A MYO3A
6	usher syndrome	33.1	WFS1 TMIE PEX6 MYO7A MYO3A GJB2
7	usher syndrome, type i	32.9	TMIE MYO7A MYO3A GJB2 CEP78
8	deafness, autosomal recessive 9	32.9	TMIE MYO7A GJB2
9	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	32.9	TMIE MYO7A MYO3A GJB2
10	deafness, autosomal recessive 49	32.9	TMIE GJB2 CLDN14
11	perrault syndrome	32.9	KARS1 GJB2 CLDN14-AS1 CLDN14 AFG3L2
12	deafness, autosomal dominant 6	32.9	WFS1 GJB2
13	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	32.8	WFS1 AFG3L2
14	deafness, autosomal dominant 9	32.8	WFS1 MYO7A GJB2
15	bartter disease	32.7	SLC12A2 CLDN14 CLCNKA
16	deafness, autosomal recessive 100	32.7	SLC12A2 MYO7A
17	deafness, autosomal dominant 36	32.7	TMIE MYO7A GJB2
18	deafness, autosomal recessive 12	32.7	TMIE MYO7A GJB2
19	deafness, autosomal dominant 7	32.7	TMIE LMX1A
20	deafness, autosomal recessive 63	32.7	TMIE MYO7A GJB2
21	deafness, autosomal recessive 2	32.6	MYO7A MYO3A GJB2
22	deafness, autosomal dominant 11	32.6	MYO7A MYO3A GJB2
23	deafness, autosomal recessive 29	32.6	GJB2 CLDN14-AS1 CLDN14
24	usher syndrome, type iiia	32.6	MYO7A GJB2 CEP78
25	deafness, autosomal recessive 18a	32.6	WFS1 MYO7A
26	deafness, autosomal recessive 3	32.5	MYO7A GJB2
27	deafness, autosomal dominant 48	32.5	MYO7A MYO3A
28	deafness, autosomal recessive 39	32.5	MYO7A GJB2
29	usher syndrome type 2	32.5	MYO7A MYO3A GJB2
30	deafness, autosomal recessive 8	32.5	TMIE GJB2
31	deafness, autosomal dominant 4a	32.5	WFS1 GJB2
32	deafness, autosomal recessive 79	32.4	MYO3A GJB2
33	deafness, autosomal recessive 16	32.4	TMIE GJB2
34	deafness, autosomal recessive 37	32.4	MYO7A MYO3A
35	deafness, autosomal dominant 25	32.4	MYO7A GJB2
36	deafness, autosomal recessive 23	32.3	MYO7A GJB2
37	waardenburg syndrome, type 4b	32.3	COL9A1 CLCNKA
38	optic atrophy 7 with or without auditory neuropathy	32.3	WFS1 AFG3L2
39	inner ear disease	32.2	WFS1 SLC12A2 MYO7A GJB2 BRF1
40	rare genetic deafness	32.2	WFS1 MYO7A GJB2 CDC14A
41	nonsyndromic hearing loss	32.1	WFS1 MYO7A MYO3A KARS1 GJB2
42	non-syndromic genetic deafness	32.0	MYO7A MYO3A KARS1 GJB2
43	labyrinthitis	32.0	MYO7A GJB2
44	dfnb1	31.9	MYO7A GJB2
45	ear malformation	31.8	MYO7A GJB2 CDC14A
46	autosomal dominant nonsyndromic deafness	31.8	WFS1 TMIE MYO7A MYO3A GJB2
47	autosomal recessive nonsyndromic deafness	31.7	TMIE MYO7A MYO3A GJB2 CLDN14-AS1 CLDN14
48	retinitis pigmentosa	31.7	WFS1 RET PEX6 MYO7A MYO3A MT-TL1
49	autosomal recessive nonsyndromic deafness 3	31.7	MYO7A MYO3A GJB2
50	deafness, autosomal dominant 17	31.7	MYO7A MYO3A GJB2

Comorbidity relations with Sensorineural Hearing Loss via Phenotypic Disease Network (PDN):

Acute Cystitis	Deficiency Anemia
Heart Disease	Hypertension, Essential
Schizophreniform Disorder

Graphical network of the top 20 diseases related to Sensorineural Hearing Loss:

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Symptoms & Phenotypes for Sensorineural Hearing Loss

UMLS symptoms related to Sensorineural Hearing Loss:

tinnitus

GenomeRNAi Phenotypes related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	shRNA abundance <= 50%	GR00343-S	9.02	CDC14A MYO3A MYO7A POGZ RET

MGI Mouse Phenotypes related to Sensorineural Hearing Loss:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10	AFG3L2 CDC14A CLDN14 GJB2 LMX1A MYO3A
2	hearing/vestibular/ear	MP:0005377	9.85	CDC14A CLCNKA CLDN14 COL9A1 GJB2 LMX1A
3	behavior/neurological	MP:0005386	9.73	AFG3L2 CLCNKA CLDN14 KARS1 LMX1A MYO3A
4	mortality/aging	MP:0010768	9.44	AFG3L2 BRF1 CDC14A CLCNKA GJB2 KARS1

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Drugs & Therapeutics for Sensorineural Hearing Loss

Drugs for Sensorineural Hearing Loss (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 114)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Ginkgo

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Neuroprotective Agents

Phase 4

Antiemetics

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Gastrointestinal Agents

Phase 4

Protective Agents

Phase 4

BB 1101

Phase 4

Hypolipidemic Agents

Phase 4

Anticholesteremic Agents

Phase 4

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 4

Lipid Regulating Agents

Phase 4

Acetylcysteine

Approved, Investigational

Phase 2, Phase 3

616-91-1

581 12035

Iron

Approved

Phase 2, Phase 3

7439-89-6

29936

Metformin

Approved

Phase 2, Phase 3

1115-70-4, 657-24-9

4091

Deferiprone

Approved

Phase 2, Phase 3

30652-11-0

2972

Prednisone

Approved, Vet_approved

Phase 3

53-03-2

5865

Valganciclovir

Approved, Investigational

Phase 3

175865-60-8

64147

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Levoleucovorin

Approved, Experimental, Investigational

Phase 3

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 3

1959-05-2, 59-05-2

4112 126941

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Hypoglycemic Agents

Phase 2, Phase 3

Expectorants

Phase 2, Phase 3

Antidotes

Phase 2, Phase 3

N-monoacetylcystine

Phase 2, Phase 3

Respiratory System Agents

Phase 2, Phase 3

Antioxidants

Phase 2, Phase 3

Iron Chelating Agents

Phase 2, Phase 3

Sitagliptin Phosphate

Phase 2, Phase 3

654671-77-9

Dipeptidyl-Peptidase IV Inhibitors

Phase 2, Phase 3

Incretins

Phase 2, Phase 3

Chelating Agents

Phase 2, Phase 3

Anesthetics

Phase 3

Pharmaceutical Solutions

Phase 3

Antiviral Agents

Phase 3

Anti-Infective Agents

Phase 3

Interventional clinical trials:

(show top 50) (show all 257)

#	Name	Status	NCT ID	Phase	Drugs
1	Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study	Completed	NCT01054378	Phase 4
2	The Effect of Positive Airway Pressure on Idiopathic Sudden Sensorineural Hearing Loss Comorbided With Obstructive Sleep Apnea: A Clinical Randomized Controlled Study	Recruiting	NCT04192656	Phase 4	Methylprednisolone Hemisuccinate;Ginaton
3	Towards a Self-Administered Hearing Protection Regimen	Not yet recruiting	NCT04826237	Phase 4	Statin;methylprednisolone;dexamethasone;Placebo
4	A Phase IV, Single-center Study of the Benefits of the Advanced Bionics Naída CI Q90 Acoustic Earhook in Adults Cochlear Implant Recipients.	Withdrawn	NCT04041596	Phase 4
5	Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss	Unknown status	NCT00416143	Phase 2, Phase 3	prednisone - oral corticosteroid 1mg/kg/D for 1 week
6	Clinical Trial on Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery: The Cochlea as a Capacitor	Unknown status	NCT03374514	Phase 3	Dexamethasone;Sterile isotonic saline solution
7	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy	Unknown status	NCT02882477	Phase 2, Phase 3	Deferiprone;Acetylcysteine;Sitagliptin and Metformin
8	A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss	Completed	NCT03331627	Phase 3	STR001-IT and STR001-ER
9	A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss	Completed	NCT03603314	Phase 2, Phase 3	SENS-401
10	A Prospective, Randomized, Double Blind, Placebo Controlled, Multicenter Study on the Safety and Efficacy of Continuous Infusion of Corticosteroid Delivered Via Catheter in Patients With Idiopathic Sudden Sensorineural Hearing Loss	Completed	NCT00335920	Phase 3	Dexamethasone-dihydrogenphosphate (4mg/ml)
11	The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group	Completed	NCT02005822	Phase 3	Valganciclovir
12	Evaluation of a Binaural Spatialization Method for Hearing Aids, in Terms of Speech Intelligibility, Speaker Localization and Subjective Preference.	Completed	NCT02693704	Phase 2, Phase 3
13	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
14	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
15	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial	Terminated	NCT01655212	Phase 3	Valganciclovir
16	Autoimmunity in Inner Ear Disease	Terminated	NCT00000361	Phase 3	Corticosteroids;Methotrexate
17	Effectiveness of NECTEC Model, Body-worn, Digital Hearing Aids and Cost of Screening and Hearing Aids Service in Elders	Unknown status	NCT01902914	Phase 1, Phase 2
18	A Phase 2a, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single and Repeat-Dose, Multicenter, Exploratory Efficacy Study of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss	Completed	NCT04120116	Phase 2	FX-322 (One Dose);FX-322 (Two Doses);FX-322 (Four Doses);Placebo
19	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Dose-Escalation Phase II Study	Completed	NCT00802425	Phase 2	AM-111;placebo
20	A Phase I/IIa, Randomized, Double-Blind, Placebo-Controlled, Safety, Pharmacokinetic, and Preliminary Efficacy Study of Unilateral Intratympanic PIPE-505 in Subjects With Sensorineural Hearing Loss Associated With Speech-in-Noise Impairment	Completed	NCT04462198	Phase 1, Phase 2	PIPE-505;Placebo
21	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
22	A Phase 1/2 Randomized, Double-blind, Placebo-controlled Single Dose Study at Two Dose Levels of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss	Completed	NCT03616223	Phase 1, Phase 2	FX-322;Placebo
23	Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss	Completed	NCT02038972	Phase 1, Phase 2
24	A Randomized, Double-blind, Placebo-controlled Phase 1/2 Study of OTO-413 Given as a Single Intratympanic Injection in Subjects With Speech-in-noise Hearing Impairment	Completed	NCT04129775	Phase 1, Phase 2	OTO-413;Placebo
25	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
26	Effectiveness of Therapy Via Telemedicine Following Cochlear Implants	Completed	NCT02497690	Phase 2
27	Predictive Factors for Recovery in Idiopathic Sensory Neural Hearing Loss	Completed	NCT05112354	Phase 2	systemic and intratympanic injection of steoid
28	High Dose Oral Steroids in Sudden Sensorineural Hearing Loss	Recruiting	NCT03255473	Phase 2	Dexamethasone;Prednisone
29	The Role of Migraine Prophylaxis Agent Topiramate in Treating Patients With Sudden Sensorineural Hearing Loss	Recruiting	NCT05403229	Phase 2	Topiramate;Systemic Steroids
30	A Phase 2, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Dose, Multicenter Study to Evaluate the Efficacy of FX-322 Administered by Intratympanic Injection in Adults With Acquired Sensorineural Hearing Loss	Active, not recruiting	NCT05086276	Phase 2	FX-322;Placebo
31	Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants: ValEAR Trial	Active, not recruiting	NCT03107871	Phase 2	Valganciclovir;Simple Syrup
32	Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial	Not yet recruiting	NCT04465188	Phase 2
33	Safety of Infusion of Autologous Human Bone Marrow Mononuclear Fraction in Children With Sensorineural Hearing Loss	Suspended	NCT02616172	Phase 1, Phase 2
34	A Phase 2 Double Blind, Randomized, Placebo Controlled Trial inVEstigating the Effect and Safety of Several Dosing Regimens of LY3056480 in Patients With STAble Sensorineural Hearing Loss	Withdrawn	NCT05061758	Phase 2	LY3056480
35	A Phase 1b, Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Dose, Multicenter, Safety Study of FX-322 Administered by Intratympanic Injection in Adults With Age-Related Sensorineural Hearing Loss	Completed	NCT04601909	Phase 1	FX-322
36	A Phase 1b, Prospective, Randomized, Double-Blind, Placebo- Controlled, Single-Dose, Multicenter, Safety Study of FX-322 Administered by Intratympanic Injection in Adults With Severe Sensorineural Hearing Loss	Completed	NCT04629664	Phase 1	FX-322
37	A Double-Blind, Randomized, Placebo-Controlled, Single-Dose, Crossover Study Of The Safety And Efficacy Of Two Fixed Doses Of PF-04958242 In Subjects With Age-Related Sensorineural Hearing Loss	Completed	NCT01518920	Phase 1	PF-04958242;Placebo
38	Randomized, Placebo-controlled, Double-blind, Dose Escalation Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC in Single Doses in Male and Female Subjects	Completed	NCT02259595	Phase 1	HPN-07;NAC;Placebo
39	Auditory Brain Training to Enhance Satisfaction and Usage of New Hearing Aids by Older Adults	Completed	NCT04230876	Phase 1
40	Triamcinolone Levels in Cochlear Perilymph	Completed	NCT03248856	Phase 1	Triamcinolone Acetonide
41	Phase I Clinical Study on the Safety, Tolerance, Efficacy and Pharmacokinetics of Repeated Intratympanic HY01 in Patients With Sudden Sensorineural Hearing Loss	Recruiting	NCT04961099	Phase 1	HY01
42	Prognostic Factors for Outcomes of Idiopathic Sudden Onset Sensorineural Hearing Loss	Unknown status	NCT04108598
43	The Evaluation of the Ischemia-modified Albumin Levels in the Patients With Sudden Sensorineural Hearing Loss	Unknown status	NCT03706183
44	Video HIT Results in Sudden Sensorineural Hearing Loss Patients	Unknown status	NCT04224909
45	Characteristics of Tinnitus in Patients With and Without Sensorineural Hearing Loss: A Matched Pair Analysis	Unknown status	NCT04162405
46	Vestibular Prognosis Assessment of the Idiopathic Sudden Sensorineural Hearing Loss With Vestibular Dysfunction Treated With Oral or Intratympanic Glucocorticoids	Unknown status	NCT03974867		Prednisone 5Mg Tab;Methylprednisolone 40 mg
47	Correlation of Auditory Evoked Brainstem Response Characteristics and Salivary Cortisone Concentration in Noise-exposed Workers	Unknown status	NCT04183361
48	Vestibular Function Evaluated by the Video Head Impulse Test (vHIT) and Vertigo Perceived by the Patients Before and After Cochlear Implant Surgery.	Unknown status	NCT02584361
49	Clinical Applications of Round Window High Resolution Computerised Tomography Anatomy in Cochlear Implant Surgery	Unknown status	NCT02093806
50	The Efficacy of a Minimally Invasive Direct Cochlear Access Via the HEARO Procedure	Unknown status	NCT04102215

Search NIH Clinical Center for Sensorineural Hearing Loss

Cochrane evidence based reviews: hearing loss, sensorineural

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Genetic Tests for Sensorineural Hearing Loss

Genetic tests related to Sensorineural Hearing Loss:

#	Genetic test	Affiliating Genes
1	Sensorineural Hearing Loss Disorder ²⁸

Sources

Anatomical Context for Sensorineural Hearing Loss

Organs/tissues related to Sensorineural Hearing Loss:

MalaCards : Bone, Bone Marrow, Brain, Neutrophil, Cortex, Thyroid, Kidney

Sources

Publications for Sensorineural Hearing Loss

Articles related to Sensorineural Hearing Loss:

(show top 50) (show all 17368)

#	Title	Authors	PMID	Year
1	Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. ⁶² ⁵	Roberts L...Ramesar RS	32827185	2020
2	Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America. ⁵	Vargas A...Celis L	33260297	2020
3	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. ⁵	Caporali L...Taroni F	32219868	2020
4	Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. ⁵	Oza AM...ClinGen Hearing Loss Clinical Domain Working Group	30311386	2018
5	An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. ⁵	Sakuma N...Usami S	26763877	2016
6	High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. ⁵	Mizutari K...Matsunaga T	25963016	2015
7	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. ⁵	Miyagawa M...Usami S	22899989	2012
8	Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. ⁵³ ⁶²	Reidling JC...Said HM	19879271	2010
9	Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. ⁵³ ⁶²	Savoia A...Pecci A	20174760	2010
10	Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. ⁵³ ⁶²	Chinetti V...Franze A	20233142	2010
11	Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ⁵³ ⁶²	Terrinoni A...Melino G	20230788	2010
12	GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. ⁵³ ⁶²	Tekin M...Pandya A	20201936	2010
13	[Auto-immune sensorineural deafness: physiopathology and therapeutic approach]. ⁵³ ⁶²	Hervier B...Hamidou M	19233519	2010
14	GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. ⁵³ ⁶²	Dalamon V...Elgoyhen AB	19887791	2010
15	Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA. ⁵³ ⁶²	Kahr WH...Blanchette VS	19967157	2009
16	Cochlear outer hair cells in a dominant-negative connexin26 mutant mouse preserve non-linear capacitance in spite of impaired distortion product otoacoustic emission. ⁵³ ⁶²	Minekawa A...Ikeda K	19712724	2009
17	The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. ⁵³ ⁶²	Rodriguez-Paris J...Schrijver I	19723508	2009
18	Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. ⁵³ ⁶²	Reyes S...Liu XZ	19786220	2009
19	Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. ⁵³ ⁶²	Kunishima S...Saito H	19645626	2009
20	Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. ⁵³ ⁶²	Carboni I...Giglio S	19364879	2009
21	Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. ⁵³ ⁶²	Dai P...Wu BL	19509082	2009
22	A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. ⁵³ ⁶²	Kim S...Lee JR	19565036	2009
23	[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. ⁵³ ⁶²	Yuan YY...Huang DL	19954013	2009
24	The role of the cytoskeleton in the formation of gap junctions by Connexin 30. ⁵³ ⁶²	Qu C...Schrijver I	19285977	2009
25	Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. ⁵³ ⁶²	Sirmaci A...Tekin M	19187973	2009
26	Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. ⁵³ ⁶²	Bircan Z...Jeck N	18843510	2009
27	Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. ⁵³ ⁶²	Bajaj Y...Bitner-Glindzicz M	19413608	2009
28	High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. ⁵³ ⁶²	Khandelwal G...Panda NK	18570691	2009
29	Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid. ⁵³ ⁶²	Bizhanova A...Kopp P	19196800	2009
30	Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. ⁵³ ⁶²	Lee KH...Greinwald JH	19235794	2009
31	New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. ⁵³ ⁶²	Iossa S...Franze A	18688874	2009
32	Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. ⁵³ ⁶²	Alexandrino F...Sartorato EL	19283857	2009
33	10p12.1 deletion: HDR phenotype without DGS2 features. ⁵³ ⁶²	Benetti E...Artifoni L	19022243	2009
34	Genetic evaluation of American minority pediatric cochlear implant recipients. ⁵³ ⁶²	Fischer TC...Parikh SR	19081147	2009
35	A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. ⁵³ ⁶²	Stritzel S...Distl O	19207931	2009
36	[Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene]. ⁵³ ⁶²	Teriutin FM...Khusnutdinova EK	19491791	2009
37	[Genetic analysis of family constellation for cochlear implant recipients]. ⁵³ ⁶²	Zhang CQ...Guan MX	19073547	2008
38	Sudden hearing loss in a family with GJB2 related progressive deafness. ⁵³ ⁶²	Kokotas H...Korres S	18809215	2008
39	A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ⁵³ ⁶²	de Zwart-Storm EA...van Steensel MA	18787097	2008
40	Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. ⁵³ ⁶²	Inoshita A...Ikeda K	18793701	2008
41	Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. ⁵³ ⁶²	Hildebrand MS...Smith RJ	18688868	2008
42	Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. ⁵³ ⁶²	Liu P...Liu M	18804074	2008
43	A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. ⁵³ ⁶²	Pera A...Hernandez-Chico C	18285825	2008
44	The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. ⁵³ ⁶²	Aoki Y...Matsubara Y	18470943	2008
45	SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. ⁵³ ⁶²	Dai P...Wu BL	18641518	2008
46	Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. ⁵³ ⁶²	Bajaj Y...Bitner-Glindzicz M	18983339	2008
47	Cochlear implants stimulate activity-dependent CREB pathway in the deaf auditory cortex: implications for molecular plasticity induced by neural prosthetic devices. ⁵³ ⁶²	Tan J...Shepherd RK	18063565	2008
48	Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. ⁵³ ⁶²	Rajab A...Dattani MT	18407919	2008
49	A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. ⁵³ ⁶²	Matos TD...Fialho G	18472371	2008
50	A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. ⁵³ ⁶²	Bramhall NF...Street VA	18518985	2008

Sources

Genes for Sensorineural Hearing Loss

Genes related to Sensorineural Hearing Loss (23 elite genes):

(show top 50) (show all 276)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	488.55	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10830906 10807358 15603707 (more) 12064630 18983339 10874298 11960582 14978038 15464308 17276518 19285977 19491791 12530196 12562518 16222667 15857182 9482292 15638823 10713883 16280295 9139825 9482297 10544226 12169891 11846738 18793701 20201936 20230788 15064611 15138772 19235794 10376574 11556849 11313763 17666888 12172392 19081147 12189487 20233142 15280719 9507396 11968091 15617546 16840571 18472371 18809215 16647980 15635064 11134236 19712724 18787097 18075246 16154643 15577772 19887791 19723508 19073547 15479191 15140211 14755431 11174420 19413608 15811717 12791041 10751665 10633135 18570691 19283857 17255958 17299707 15793769 18412859 16952406 16282682 12668604 10607953 18688874 17455295 18641518 18089569 15832357 14676473 15996214
2	TMIE	Transmembrane Inner Ear	Protein Coding	447.36	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
3	MYO7A	Myosin VIIA	Protein Coding	443.26	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	8776602 11450843 8622919
4	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	435.09	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16408729 16648378 18688868 (more) 9485112 16151413 12490066 12707187 12884741 16353398 17517145 18518985 11709537
5	CEP78	Centrosomal Protein 78	Protein Coding	432.54	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
6	CLDN14	Claudin 14	Protein Coding	422.14	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	LMX1A	LIM Homeobox Transcription Factor 1 Alpha	Protein Coding	420.66	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	CDC14A	Cell Division Cycle 14A	Protein Coding	419.38	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
9	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	413.75	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	413.67	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
11	MT-TL1	Mitochondrially Encoded TRNA-Leu (UUA/G) 1	RNA Gene	406.46	Pathogenic ⁵ DISEASES inferred ¹⁴
12	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	406.43	Pathogenic ⁵ DISEASES inferred ¹⁴
13	MYO3A	Myosin IIIA	Protein Coding	406.14	Pathogenic ⁵ DISEASES inferred ¹⁴
14	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	405.92	Pathogenic ⁵ DISEASES inferred ¹⁴
15	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	405.67	Pathogenic ⁵ DISEASES inferred ¹⁴	33260297
16	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	405.16	Pathogenic ⁵ DISEASES inferred ¹⁴	32219868
17	RET	Ret Proto-Oncogene	Protein Coding	403.94	Pathogenic ⁵ DISEASES inferred ¹⁴
18	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	403.81	Pathogenic ⁵ DISEASES inferred ¹⁴
19	BRF1	BRF1 RNA Polymerase III Transcription Initiation Factor Subunit	Protein Coding	400	Pathogenic ⁵
20	CLDN14-AS1	CLDN14 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
21	FOXP4	Forkhead Box P4	Protein Coding	400	Pathogenic ⁵
22	TMCO1	Transmembrane And Coiled-Coil Domains 1	Protein Coding	400	Pathogenic ⁵
23	ZSCAN10	Zinc Finger And SCAN Domain Containing 10	Protein Coding	400	Pathogenic ⁵
24	CDH23	Cadherin Related 23	Protein Coding	49.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	25963016 22899989 26763877
25	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	48.44	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	TECTA	Tectorin Alpha	Protein Coding	48.42	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
27	GIPC3	GIPC PDZ Domain Containing Family Member 3	Protein Coding	48.33	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
28	HARS2	Histidyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	48.26	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
29	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	48.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19196800 19565036 17659500 (more) 15279074 12642503 16914891 11919333 18067822 18641518 19786220 15679828 18075246 19073547 19954013 19509082 16791000 12727986 12788906 18285825 10190331 11405873
30	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	45.43	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	7859284
31	GJB6	Gap Junction Protein Beta 6	Protein Coding	44.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15464308 19285977 16222667 (more) 17666888 20233142 16840571 15064611 15140211 19283857
32	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	44.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	12500243 11139892 19364879 (more) 9916796 16433694 11160790 11045400
33	SERPINB6	Serpin Family B Member 6	Protein Coding	41.6	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Functions (show sections)
34	GJB3	Gap Junction Protein Beta 3	Protein Coding	41.05	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10943702 9843210 15276679 (more) 11450843 12165562 15140211 16259330 19283857
35	OTOF	Otoferlin	Protein Coding	40.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15253338 16097006
36	MYH9	Myosin Heavy Chain 9	Protein Coding	40.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	20174760 16596254 17146397 (more) 16978745 19645626 19967157 10973259 17655694
37	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	37.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10536982 11343641 19207931
38	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	35.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16207888
39	COCH	Cochlin	Protein Coding	35.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11709536 12843317 12928864 (more) 16374056 16481359 10942145 10890144 14733925 9931344 18269866 19233519 14704763
40	TMC1	Transmembrane Channel Like 1	Protein Coding	32.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19187973
41	USH2A	Usherin	Protein Coding	32.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	14970843
42	SLC52A2	Solute Carrier Family 52 Member 2	Protein Coding	31.73	Likely pathogenic ⁵ DISEASES inferred ¹⁴
43	EDN3	Endothelin 3	Protein Coding	31.45	Likely pathogenic ⁵ DISEASES inferred ¹⁴
44	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	30.59	Likely pathogenic ⁵ DISEASES inferred ¹⁴	32827185
45	NARS2	Asparaginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	30.34	Likely pathogenic ⁵ DISEASES inferred ¹⁴
46	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	30.33	Likely pathogenic ⁵ DISEASES inferred ¹⁴
47	MYO6	Myosin VI	Protein Coding	29.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16507995 15123708
48	CHN1	Chimerin 1	Protein Coding	29.3	Likely pathogenic ⁵ DISEASES inferred ¹⁴
49	NEFL	Neurofilament Light Chain	Protein Coding	29.23	Likely pathogenic ⁵ DISEASES inferred ¹⁴
50	SPNS2	SPNS Lysolipid Transporter 2, Sphingosine-1-Phosphate	Protein Coding	28.35	Likely pathogenic ⁵ DISEASES inferred ¹⁴

Sources

Variations for Sensorineural Hearing Loss

ClinVar genetic disease variations for Sensorineural Hearing Loss:

⁵ (show top 50) (show all 78)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KARS1	NM_005548.3(KARS1):c.1354del (p.Leu452fs)	DEL	Pathogenic	560389	rs1567498374	GRCh37: 16:75664391-75664391 GRCh38: 16:75630493-75630493
2	LMX1A	NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)	SNV	Pathogenic	517667	rs763320093	GRCh37: 1:165173160-165173160 GRCh38: 1:165203923-165203923
3	CDC14A	NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)	DEL	Pathogenic	691620	rs1571346132	GRCh37: 1:100963693-100963694 GRCh38: 1:100498137-100498138
4	PEX6	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	SNV	Pathogenic	869197	rs1770427781	GRCh37: 6:42946518-42946518 GRCh38: 6:42978780-42978780
5	KARS1	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	SNV	Pathogenic	694746	rs1415687857	GRCh37: 16:75663371-75663371 GRCh38: 16:75629473-75629473
6	CEP78	NM_001330691.3(CEP78):c.534del (p.Lys179fs)	DEL	Pathogenic	372270	rs1057517695	GRCh37: 9:80856645-80856645 GRCh38: 9:78241729-78241729
7	GJB2	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	SNV	Pathogenic	17020	rs28931594	GRCh37: 13:20763573-20763573 GRCh38: 13:20189434-20189434
8	BRF1	NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)	SNV	Pathogenic	867234	rs1343140353	GRCh37: 14:105707642-105707642 GRCh38: 14:105241305-105241305
9	ZSCAN10	NM_032805.3(ZSCAN10):c.2050del (p.His684fs)	DEL	Pathogenic	1677001		GRCh37: 16:3139385-3139385 GRCh38: 16:3089384-3089384
10	ZSCAN10	NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)	SNV	Pathogenic	1677241		GRCh37: 16:3140185-3140185 GRCh38: 16:3090184-3090184
11	SLC12A2	NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser)	SNV	Pathogenic	972899	rs1581138965	GRCh37: 5:127512829-127512829 GRCh38: 5:128177137-128177137
12	AFG3L2	NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	SNV	Pathogenic	973105	rs1908371616	GRCh37: 18:12353102-12353102 GRCh38: 18:12353103-12353103
13	WFS1	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	SNV	Pathogenic	598973	rs771409809	GRCh37: 4:6303521-6303521 GRCh38: 4:6301794-6301794
14	PEX6	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	SNV	Pathogenic	553552	rs267608239	GRCh37: 6:42933788-42933788 GRCh38: 6:42966050-42966050
15	MYO3A	NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	DEL	Pathogenic	655296	rs760866131	GRCh37: 10:26377141-26377142 GRCh38: 10:26088212-26088213
16	RET	NM_020975.6(RET):c.1280_1281del (p.Val427fs)	MICROSAT	Pathogenic	590798	rs1564494285	GRCh37: 10:43606667-43606668 GRCh38: 10:43111219-43111220
17	CEP78	NM_001330691.3(CEP78):c.893-1G>A	SNV	Pathogenic	372269	rs1057517694	GRCh37: 9:80863206-80863206 GRCh38: 9:78248290-78248290
18	TMCO1	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	SNV	Pathogenic	598963	rs765379963	GRCh37: 1:165712409-165712409 GRCh38: 1:165743172-165743172
19	POGZ	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	DEL	Pathogenic	523510	rs1553212868	GRCh37: 1:151378740-151378740 GRCh38: 1:151406264-151406264
20	FOXP4	NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)	SNV	Pathogenic	1472670		GRCh37: 6:41562611-41562611 GRCh38: 6:41594873-41594873
21	MYO7A	NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter)	SNV	Pathogenic	984399		GRCh37: 11:76915236-76915236 GRCh38: 11:77204191-77204191
22	TMIE	NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	DUP	Pathogenic	984396		GRCh37: 3:46747306-46747307 GRCh38: 3:46705816-46705817
23	CLCNKA	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	SNV	Pathogenic	587598	rs202069201	GRCh37: 1:16349169-16349169 GRCh38: 1:16022674-16022674
24	CLDN14-AS1, CLDN14	NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)	INSERT	Pathogenic	984395		GRCh37: 21:37833953-37833954 GRCh38: 21:36461655-36461656
25	COL9A1	NM_001851.6(COL9A1):c.2644del (p.Val882fs)	DEL	Pathogenic	984393		GRCh37: 6:70926722-70926722 GRCh38: 6:70217019-70217019
26	MT-TL1	NC_012920.1:m.3243A>G	SNV	Pathogenic	9589	rs199474657	GRCh37: MT:3243-3243 GRCh38: MT:3243-3243
27	TBCEL-TECTA, TECTA	NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)	SNV	Likely Pathogenic	517663	rs772606235	GRCh37: 11:121008295-121008295 GRCh38: 11:121137586-121137586
28	COL11A2	NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	SNV	Likely Pathogenic	374129	rs745434198	GRCh37: 6:33133760-33133760 GRCh38: 6:33165983-33165983
29	EDN3	NM_207034.3(EDN3):c.293C>T (p.Thr98Met)	SNV	Likely Pathogenic	984392		GRCh37: 20:57876705-57876705 GRCh38: 20:59301650-59301650
30	NARS2	NM_024678.6(NARS2):c.1339A>G (p.Met447Val)	SNV	Likely Pathogenic	984391		GRCh37: 11:78147811-78147811 GRCh38: 11:78436765-78436765
31	ATP6V0A4	NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)	MICROSAT	Likely Pathogenic	984398		GRCh37: 7:138441213-138441215 GRCh38: 7:138756468-138756470
32	SLC52A2	NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)	SNV	Likely Pathogenic	984397		GRCh37: 8:145584125-145584125 GRCh38: 8:144360465-144360465
33	CHN1	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	SNV	Likely Pathogenic	598971	rs1558939623	GRCh37: 2:175689207-175689207 GRCh38: 2:174824479-174824479
34	HARS2	NM_012208.4(HARS2):c.1439G>A (p.Arg480His)	SNV	Likely Pathogenic	635270	rs200089613	GRCh37: 5:140077641-140077641 GRCh38: 5:140698056-140698056
35	NEFL	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	SNV	Likely Pathogenic	41236	rs58982919	GRCh37: 8:24813737-24813737 GRCh38: 8:24956223-24956223
36	TBCEL-TECTA, TECTA	NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	SNV	Likely Pathogenic	236058	rs140236996	GRCh37: 11:121038773-121038773 GRCh38: 11:121168064-121168064
37	TMIE	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	SNV	Likely Pathogenic	3391	rs28942097	GRCh37: 3:46750654-46750654 GRCh38: 3:46709164-46709164
38	CDH23	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	SNV	Likely Pathogenic	444219	rs756147087	GRCh37: 10:73464800-73464800 GRCh38: 10:71705043-71705043
39	RRM2B	NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)	SNV	Likely Pathogenic	977276	rs1810682433	GRCh37: 8:103226285-103226285 GRCh38: 8:102214057-102214057
40	STX4	NM_004604.5(STX4):c.232+6T>C	SNV	Likely Pathogenic	1676769		GRCh37: 16:31045652-31045652 GRCh38: 16:31034331-31034331
41	RAB33A, AIFM1	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	SNV	Likely Pathogenic	374094	rs1057518895	GRCh37: X:129271109-129271109 GRCh38: X:130137134-130137134
42	SPNS2	NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)	SNV	Likely Pathogenic	1704252		GRCh37: 17:4435950-4435950 GRCh38: 17:4532655-4532655
43	HARS2	NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer)	INDEL	Likely Pathogenic	635271	rs1581550832	GRCh37: 5:140076529-140076529 GRCh38: 5:140696944-140696944
44	HARS2	NM_012208.4(HARS2):c.413G>A (p.Arg138His)	SNV	Likely Pathogenic	635272	rs1432653451	GRCh37: 5:140075106-140075106 GRCh38: 5:140695521-140695521
45	LOC119407423, HARS2	NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)	SNV	Likely Pathogenic	635273	rs1581536078	GRCh37: 5:140071305-140071305 GRCh38: 5:140691720-140691720
46	GJB2	NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)	SNV	Likely Pathogenic	586962	rs104894403	GRCh37: 13:20763525-20763525 GRCh38: 13:20189386-20189386
47	GIPC3	NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)	SNV	Likely Pathogenic	620637	rs1348505504	GRCh37: 19:3586667-3586667 GRCh38: 19:3586669-3586669
48	overlap with 11 genes	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	CN GAIN	Uncertain Significance	635776		GRCh37: 5:179065654-179541490 GRCh38:
49	GIPC3	NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)	SNV	Uncertain Significance	163502	rs727503062	GRCh37: 19:3585717-3585717 GRCh38: 19:3585719-3585719
50	ESPN	NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr)	SNV	Uncertain Significance	694651	rs776386029	GRCh37: 1:6501045-6501045 GRCh38: 1:6440985-6440985

Copy number variations for Sensorineural Hearing Loss from CNVD:

⁶ (show all 13)

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	115500	17	58121080	60118579	Deletion		Sensorineural hearing loss
2	115503	17	58121080	60118579	Deletion	APPBP2	sensorineural hearing loss
3	115507	17	58121080	60118579	Deletion	BCAS3	sensorineural hearing loss
4	115511	17	58121080	60118579	Deletion	BRIP1	sensorineural hearing loss
5	115515	17	58121080	60118579	Deletion	CA4	sensorineural hearing loss
6	115519	17	58121080	60118579	Deletion	INTS2	sensorineural hearing loss
7	115523	17	58121080	60118579	Deletion	MED13	sensorineural hearing loss
8	115527	17	58121080	60118579	Deletion	NACA2	sensorineural hearing loss
9	115531	17	58121080	60118579	Deletion	PPM1D	sensorineural hearing loss
10	115535	17	58121080	60118579	Deletion	TBX2	sensorineural hearing loss
11	115539	17	58121080	60118579	Deletion	TBX4	sensorineural hearing loss
12	115543	17	58121080	60118579	Deletion	USP32	sensorineural hearing loss
13	115552	17	58172730	60315273	Deletion		Sensorineural hearing loss

Sources

Expression for Sensorineural Hearing Loss

Search GEO for disease gene expression data for Sensorineural Hearing Loss.

Sources

Pathways for Sensorineural Hearing Loss

Pathways directly related to Sensorineural Hearing Loss:

#	Pathway	Source
1	Defective SLC26A4 causes Pendred syndrome (PDS)	Reactome ⁶⁶
2	Defective SLC33A1 causes spastic paraplegia 42 (SPG42)	Reactome ⁶⁶

Sources

GO Terms for Sensorineural Hearing Loss

Cellular components related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	stereocilium	GO:0032420	8.92	MYO7A MYO3A CDC14A

Biological processes related to Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane protein proteolysis	GO:0033619	9.56	RET AFG3L2
2	transepithelial chloride transport	GO:0030321	9.46	SLC12A2 CLCNKA
3	sensory perception of sound	GO:0007605	9.4	WFS1 TMIE MYO7A MYO3A GJB2 CDC14A
4	olfactory behavior	GO:0042048	9.26	WFS1 LMX1A