Deafness, Autosomal Recessive 98 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Autosomal Recessive 98

MalaCards integrated aliases for Deafness, Autosomal Recessive 98:

Name: Deafness, Autosomal Recessive 98 ⁵⁷ ²⁹ ¹³ ⁶ ⁷⁰

Dfnb98 ⁵⁷ ¹² ⁷²

Autosomal Recessive Nonsyndromic Deafness 98 ¹² ¹⁵

Deafness, Autosomal Recessive, Type 98 ³⁹

Deafness, Autosomal Recessive, 98 ⁷²

Autosomal Recessive Deafness 98 ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset

HPO:

³¹

deafness, autosomal recessive 98:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

Disease Ontology ¹² DOID:0110540

OMIM® ⁵⁷ 614861

OMIM Phenotypic Series ⁵⁷ PS220290

MeSH ⁴⁴ D006319

ICD10 ³² H90.3

MedGen ⁴¹ C3553932 CN158714

SNOMED-CT via HPO ⁶⁸ 258211005 60700002

UMLS ⁷⁰ C3553932

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Summaries for Deafness, Autosomal Recessive 98

UniProtKB/Swiss-Prot : ⁷² Deafness, autosomal recessive, 98: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 98, also known as dfnb98, is related to deafness, autosomal recessive 8 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 98 is TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats), and among its related pathways/superpathways are Cardiac conduction and Keratinization. Affiliated tissues include heart and temporal lobe, and related phenotype is sensorineural hearing impairment.

Disease Ontology : ¹² An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TSPEAR gene on chromosome 21q22.

OMIM® : ⁵⁷ This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). (614861) (Updated 20-May-2021)

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Related Diseases for Deafness, Autosomal Recessive 98

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a	Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a	Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6	Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7	Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9	Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10	Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9	Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7	Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a	Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15	Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15	Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13	Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21	Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16	Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20	Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23	Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25	Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18	Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22	Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36	Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22	Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30	Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33	Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52	Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48	Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41	Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39	Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43	Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28	Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47	Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23	Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46	Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28	Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47	Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53	Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49	Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66	Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65	Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68	Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63	Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45	Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b	Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b	Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50	Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25	Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a	Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91	Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83	Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61	Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29	Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33	Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b	Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98	Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70	Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b	Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76	Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54	Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101	Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103	Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67	Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104	Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97	Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70	Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71	Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106	Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108	Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57	Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110	Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111	Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113	Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94	Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115	Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37	Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76	Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78	Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116	Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80	Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness	Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107	Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71	Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73	Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36	Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79	Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74	Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76	Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness	Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 98 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, autosomal recessive 8	30.1	TSPEAR TMPRSS4 TMPRSS3
2	autosomal recessive non-syndromic sensorineural deafness type dfnb	29.1	TSPEAR-AS1 TSPEAR TMPRSS3 KRTAP12-4 KRTAP12-1 KRTAP10-2
3	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	10.3	TSPEAR-AS1 TSPEAR
4	petroclival meningioma	10.2	TMPRSS4 TMPRSS3
5	deafness, autosomal recessive 83	10.2	TMPRSS4 TMPRSS3
6	deafness, autosomal recessive 29	10.1	TSPEAR CLDN14
7	deafness, autosomal recessive 39	10.1	TMPRSS3 CLDN14
8	deafness, autosomal dominant 7	10.1	TMPRSS4 TMPRSS3
9	auditory system disease	10.0	TMPRSS4 TMPRSS3 ADGRV1
10	epilepsy, familial temporal lobe, 1	10.0	LGI2 LGI1 ADGRV1
11	vestibular disease	10.0	TMPRSS3 KCNE3 KCNE1
12	unverricht-lundborg syndrome	9.9	LGI2 LGI1 ADGRV1
13	branchiootic syndrome 1	9.9
14	deafness, autosomal recessive	9.9
15	audiogenic seizures	9.9
16	autosomal dominant nonsyndromic deafness	9.9	TMPRSS4 TMPRSS3 KCNE1 ADGRV1
17	autosomal recessive nonsyndromic deafness	9.9	TMPRSS4 TMPRSS3 CLDN14 ADGRV1
18	hereditary hearing loss and deafness	9.9	KCNE1 CLDN14
19	peripheral vertigo	9.8	KCNE3 KCNE1
20	hypokalemic periodic paralysis, type 1	9.7	KCNE5 KCNE4 KCNE3 KCNE1
21	atrial fibrillation	9.6	KCNQ1 KCNE2 KCNE1
22	long qt syndrome 12	9.6	KCNQ1 KCNE2 KCNE1
23	long qt syndrome 10	9.6	KCNQ1 KCNE2 KCNE1
24	long qt syndrome 13	9.6	KCNQ1 KCNE2 KCNE1
25	long qt syndrome 11	9.6	KCNQ1 KCNE2 KCNE1
26	ventricular fibrillation, paroxysmal familial, 1	9.6	KCNQ1 KCNE2 KCNE1
27	long qt syndrome 9	9.6	KCNQ1 KCNE2 KCNE1
28	long qt syndrome 3	9.6	KCNQ1 KCNE2 KCNE1
29	timothy syndrome	9.6	KCNQ1 KCNE2 KCNE1
30	cardiac arrhythmia, ankyrin-b-related	9.6	KCNQ1 KCNE2 KCNE1
31	myasthenic syndrome, congenital, 5	9.6	KCNQ1 KCNE2 KCNE1
32	atrioventricular block	9.6	KCNQ1 KCNE2 KCNE1
33	familial long qt syndrome	9.5	KCNQ1 KCNE2 KCNE1
34	intrinsic cardiomyopathy	9.5	KCNQ1 KCNE2 KCNE1
35	long qt syndrome 6	9.3	KCNQ1 KCNE3 KCNE2 KCNE1
36	andersen cardiodysrhythmic periodic paralysis	9.3	KCNQ1 KCNE3 KCNE2 KCNE1
37	catecholaminergic polymorphic ventricular tachycardia	9.3	KCNQ1 KCNE3 KCNE2 KCNE1
38	sensorineural hearing loss	9.1	TSPEAR TMPRSS3 KCNQ1 KCNE5 KCNE1 CLDN14
39	long qt syndrome 5	9.1	KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
40	long qt syndrome	9.1	KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
41	short qt syndrome	9.1	KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
42	long qt syndrome 2	9.1	KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
43	jervell and lange-nielsen syndrome 1	8.9	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
44	familial atrial fibrillation	8.9	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
45	long qt syndrome 1	8.9	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
46	heart conduction disease	8.9	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
47	brugada syndrome	8.9	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 98:

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Symptoms & Phenotypes for Deafness, Autosomal Recessive 98

Human phenotypes related to Deafness, Autosomal Recessive 98:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	sensorineural hearing impairment ³¹		HP:0000407

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Ears:
sensorineural deafness, profound
no auditory brainstem response to 100-db stimulus
transient evoked otoacoustic emissions cannot be detected

Clinical features from OMIM®:

614861 (Updated 20-May-2021)

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Drugs & Therapeutics for Deafness, Autosomal Recessive 98

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 98

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Genetic Tests for Deafness, Autosomal Recessive 98

Genetic tests related to Deafness, Autosomal Recessive 98:

#	Genetic test	Affiliating Genes
1	Deafness, Autosomal Recessive 98 ²⁹	TSPEAR

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Anatomical Context for Deafness, Autosomal Recessive 98

MalaCards organs/tissues related to Deafness, Autosomal Recessive 98:

⁴⁰

Heart, Temporal Lobe

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Publications for Deafness, Autosomal Recessive 98

Articles related to Deafness, Autosomal Recessive 98:

#	Title	Authors	PMID	Year
1	Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. ⁶¹ ⁵⁷ ⁶	Delmaghani S...Petit C	22678063	2012
2	Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. ⁶	Peled A...Sprecher E	27736875	2016
3	Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. ⁶¹	Du R...Uyguner ZO	30046887	2018

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Genes for Deafness, Autosomal Recessive 98

Genes related to Deafness, Autosomal Recessive 98 (5 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TSPEAR	Thrombospondin Type Laminin G Domain And EAR Repeats	Protein Coding	1085.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	22678063 27736875
2	KRTAP12-4	Keratin Associated Protein 12-4	Protein Coding	407.61	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	TSPEAR-AS1	TSPEAR Antisense RNA 1	RNA Gene	407.61	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	22678063 27736875
4	KRTAP10-2	Keratin Associated Protein 10-2	Protein Coding	407.26	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	KRTAP12-1	Keratin Associated Protein 12-1	Protein Coding	407.26	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	7.42	DISEASES inferred ¹⁵
7	KRTAP10-1	Keratin Associated Protein 10-1	Protein Coding	7.26	GeneCards inferred via : Variants (show sections)
8	LGI2	Leucine Rich Repeat LGI Family Member 2	Protein Coding	7.11	DISEASES inferred ¹⁵
9	TMPRSS4	Transmembrane Serine Protease 4	Protein Coding	7.09	DISEASES inferred ¹⁵
10	CLDN14	Claudin 14	Protein Coding	6.47	DISEASES inferred ¹⁵
11	ADGRV1	Adhesion G Protein-Coupled Receptor V1	Protein Coding	6.13	DISEASES inferred ¹⁵
12	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	5.58	DISEASES inferred ¹⁵
13	KCNE4	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4	Protein Coding	5.53	DISEASES inferred ¹⁵
14	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	5.53	DISEASES inferred ¹⁵
15	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	5.48	DISEASES inferred ¹⁵
16	KCNE3	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3	Protein Coding	5	DISEASES inferred ¹⁵
17	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	4.58	DISEASES inferred ¹⁵
18	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	3.77	DISEASES inferred ¹⁵
19	LGR5	Leucine Rich Repeat Containing G Protein-Coupled Receptor 5	Protein Coding	3.64	DISEASES inferred ¹⁵

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Variations for Deafness, Autosomal Recessive 98

ClinVar genetic disease variations for Deafness, Autosomal Recessive 98:

⁶ (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TSPEAR-AS1 , TSPEAR	NM_144991.3(TSPEAR):c.1728del (p.Lys577fs)	Deletion	Pathogenic	37311	rs782540538	GRCh37: 21:45929108-45929108 GRCh38: 21:44509225-44509225
2	KRTAP12-4 , TSPEAR	NM_144991.3(TSPEAR):c.82+56987C>T	SNV	Pathogenic	1030230		GRCh37: 21:46074363-46074363 GRCh38: 21:44654446-44654446
3	TSPEAR	NM_144991.3(TSPEAR):c.38del (p.Leu13fs)	Deletion	Pathogenic	1033116		GRCh37: 21:46131392-46131392 GRCh38: 21:44711477-44711477
4	KRTAP12-1 , TSPEAR	NM_144991.3(TSPEAR):c.82+29467_82+29468del	Microsatellite	Pathogenic	1033117		GRCh37: 21:46101880-46101881 GRCh38: 21:44681965-44681966
5	KRTAP12-4 , TSPEAR	NM_144991.3(TSPEAR):c.82+56896C>G	SNV	Pathogenic	1034285		GRCh37: 21:46074454-46074454 GRCh38: 21:44654537-44654537
6	TSPEAR	NM_144991.3(TSPEAR):c.2T>C (p.Met1Thr)	SNV	Pathogenic	1033113		GRCh37: 21:46131428-46131428 GRCh38: 21:44711513-44711513
7	KRTAP10-2 , TSPEAR	NM_144991.3(TSPEAR):c.303+16675del	Deletion	Pathogenic	1033114		GRCh37: 21:45970993-45970993 GRCh38: 21:44551110-44551110
8	KRTAP10-1 , TSPEAR	NM_144991.3(TSPEAR):c.304-5450G>T	SNV	Uncertain significance	1033115		GRCh37: 21:45959256-45959256 GRCh38: 21:44539373-44539373
9	TSPEAR	NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)	SNV	Uncertain significance	229377	rs146257403	GRCh37: 21:45953746-45953746 GRCh38: 21:44533863-44533863
10	TSPEAR	NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	SNV	Uncertain significance	227135	rs138480801	GRCh37: 21:45919761-45919761 GRCh38: 21:44499878-44499878
11	TSPEAR	NM_144991.3(TSPEAR):c.1856+19C>T	SNV	Uncertain significance	1033112		GRCh37: 21:45924644-45924644 GRCh38: 21:44504761-44504761
12	TSPEAR-AS1 , TSPEAR	NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)	SNV	not provided	684487	rs781818534	GRCh37: 21:45929161-45929161 GRCh38: 21:44509278-44509278

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Expression for Deafness, Autosomal Recessive 98

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 98.

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Pathways for Deafness, Autosomal Recessive 98

Pathways related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.46	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2	Keratinization ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	12.08	KRTAP12-4 KRTAP12-1 KRTAP10-2 KRTAP10-1
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	11.91	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
4	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.31	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.85	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6	TarBasePathway ¹	10.68	KCNQ1 KCNE1
7	LGI-ADAM interactions ⁶⁵	10.54	LGI2 LGI1

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GO Terms for Deafness, Autosomal Recessive 98

Cellular components related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament	GO:0005882	9.46	KRTAP12-4 KRTAP12-1 KRTAP10-2 KRTAP10-1
2	keratin filament	GO:0045095	9.26	KRTAP12-4 KRTAP12-1 KRTAP10-2 KRTAP10-1
3	voltage-gated potassium channel complex	GO:0008076	9.1	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Biological processes related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	10.06	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2	regulation of ion transmembrane transport	GO:0034765	9.95	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
3	keratinization	GO:0031424	9.91	KRTAP12-4 KRTAP12-1 KRTAP10-2 KRTAP10-1
4	sensory perception of sound	GO:0007605	9.91	TSPEAR TMPRSS3 KCNQ1 KCNE1 ADGRV1
5	potassium ion transport	GO:0006813	9.89	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
6	potassium ion transmembrane transport	GO:0071805	9.88	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
7	regulation of heart rate by cardiac conduction	GO:0086091	9.88	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.85	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
9	ventricular cardiac muscle cell action potential	GO:0086005	9.8	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
10	inner ear development	GO:0048839	9.77	LGR5 KCNQ1 ADGRV1
11	cardiac conduction	GO:0061337	9.77	KCNQ1 KCNE2 KCNE1
12	regulation of potassium ion transmembrane transport	GO:1901379	9.74	KCNE5 KCNE2 KCNE1
13	positive regulation of potassium ion transmembrane transport	GO:1901381	9.73	KCNQ1 KCNE5 KCNE1
14	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.73	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
15	membrane repolarization	GO:0086009	9.71	KCNQ1 KCNE2 KCNE1
16	regulation of membrane repolarization	GO:0060306	9.7	KCNQ1 KCNE5 KCNE2
17	cardiac muscle cell action potential involved in contraction	GO:0086002	9.63	KCNE2 KCNE1
18	atrial cardiac muscle cell action potential	GO:0086014	9.63	KCNQ1 KCNE5
19	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.63	KCNQ1 KCNE5 KCNE1
20	potassium ion export across plasma membrane	GO:0097623	9.63	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
21	positive regulation of voltage-gated calcium channel activity	GO:1901387	9.62	KCNE3 KCNE2
22	regulation of delayed rectifier potassium channel activity	GO:1902259	9.62	KCNE2 KCNE1
23	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.61	KCNQ1 KCNE5
24	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.61	KCNQ1 KCNE3 KCNE2
25	negative regulation of potassium ion export across plasma membrane	GO:1903765	9.58	KCNE5 KCNE3
26	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.43	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
27	membrane repolarization during action potential	GO:0086011	9.1	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Molecular functions related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated ion channel activity	GO:0005244	9.83	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
2	ion channel binding	GO:0044325	9.8	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
3	potassium channel activity	GO:0005267	9.77	KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
4	potassium channel regulator activity	GO:0015459	9.65	KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5	voltage-gated potassium channel activity	GO:0005249	9.63	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.58	KCNQ1 KCNE5 KCNE1
7	delayed rectifier potassium channel activity	GO:0005251	9.43	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.1	KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Sources

Sources for Deafness, Autosomal Recessive 98

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Deafness, Autosomal Recessive 98 (DFNB98)

Aliases & Classifications for Deafness, Autosomal Recessive 98

MalaCards integrated aliases for Deafness, Autosomal Recessive 98:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Deafness, Autosomal Recessive 98

Related Diseases for Deafness, Autosomal Recessive 98

Diseases in the Rare Deafness family:

Diseases related to Deafness, Autosomal Recessive 98 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 98:

Symptoms & Phenotypes for Deafness, Autosomal Recessive 98

Human phenotypes related to Deafness, Autosomal Recessive 98:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Deafness, Autosomal Recessive 98

Genetic Tests for Deafness, Autosomal Recessive 98

Genetic tests related to Deafness, Autosomal Recessive 98:

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Publications for Deafness, Autosomal Recessive 98

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Genes related to Deafness, Autosomal Recessive 98 (5 elite genes):

Variations for Deafness, Autosomal Recessive 98

ClinVar genetic disease variations for Deafness, Autosomal Recessive 98:

Expression for Deafness, Autosomal Recessive 98

Pathways for Deafness, Autosomal Recessive 98

Pathways related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

GO Terms for Deafness, Autosomal Recessive 98

Cellular components related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

Biological processes related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

Molecular functions related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

Sources for Deafness, Autosomal Recessive 98