DFNB98
MCID: DFN269
MIFTS: 37

Deafness, Autosomal Recessive 98 (DFNB98)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0110540
OMIM® 57 614861
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C3553932

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)

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:



Diseases related to Deafness, Autosomal Recessive 98

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)

Drugs & Therapeutics for Deafness, Autosomal Recessive 98

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

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

Anatomical Context for Deafness, Autosomal Recessive 98

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

40
Heart, Temporal Lobe

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
22678063 2012
2
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 6
27736875 2016
3
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018

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

Expression for Deafness, Autosomal Recessive 98

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

Pathways for Deafness, Autosomal Recessive 98

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 for Deafness, Autosomal Recessive 98

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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