DFNA36
MCID: DFN128
MIFTS: 39

Deafness, Autosomal Dominant 36 (DFNA36)

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

Aliases & Classifications for Deafness, Autosomal Dominant 36

MalaCards integrated aliases for Deafness, Autosomal Dominant 36:

Name: Deafness, Autosomal Dominant 36 57 29 13 6 70
Dfna36 57 12 72 54
Autosomal Dominant Nonsyndromic Deafness 36 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 72
Deafness, Autosomal Dominant, Type 36 39
Deafness, Autosomal Dominant, 36 72
Autosomal Dominant Deafness 36 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset between 5 to 28 years of age


HPO:

31
deafness, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110563
OMIM® 57 606705
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
UMLS 70 C1847626

Summaries for Deafness, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 36: A form of non-syndromic sensorineural hearing loss. 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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years.

MalaCards based summary : Deafness, Autosomal Dominant 36, also known as dfna36, is related to branchiootic syndrome 1 and deafness, autosomal recessive 7, and has symptoms including tinnitus An important gene associated with Deafness, Autosomal Dominant 36 is TMC1 (Transmembrane Channel Like 1). Related phenotypes are sensorineural hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has material basis in mutation in the TMC1 gene on chromosome 9q21.

More information from OMIM: 606705 PS124900

Related Diseases for Deafness, Autosomal Dominant 36

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
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 Dominant 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.9 TMC1 SLC26A4 OTOF GJB2 CDH23
2 deafness, autosomal recessive 7 28.7 TMIE TMC2 TMC1 STT3A SLC26A4 OTOF
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.3 TMIE TMC1 SLC26A4 PCDH15 OTOF MYO15A
4 rare genetic deafness 27.9 TMIE TMC1 SLC26A4 PCDH15 OTOF MYO15A
5 nonsyndromic hearing loss 27.9 TMIE TMC1 SLC26A4 PCDH15 OTOF MYO15A
6 autosomal dominant non-syndromic sensorineural deafness type dfna 27.8 TMC1 SLC26A4 PCDH15 OTOF LHFPL5 KCNQ4
7 sensorineural hearing loss 27.7 TMIE TMC1 SLC26A4 PCDH15 OTOF MYO15A
8 deafness, autosomal recessive 27 10.3 TMIE TMC1
9 deafness, autosomal recessive 3 10.3 MYO15A GJB2
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
11 autosomal recessive nonsyndromic deafness 36 10.3 PCDH15 ESPN
12 rare deafness 10.3 PCDH15 CDH23
13 deafness, autosomal dominant 3b 10.3 LHFPL5 GJB2
14 usher syndrome, type ik 10.3 PCDH15 CDH23
15 usher syndrome, type ih 10.3 PCDH15 CDH23
16 deafness, autosomal dominant 27 10.2 TMIE MYO15A
17 deafness, autosomal dominant 30 10.2 TMIE TMC2 TMC1
18 deafness, autosomal recessive 6 10.2 TMIE LHFPL5 CDH23
19 deafness, autosomal recessive 35 10.2 TMIE CDH23
20 usher syndrome, type ij 10.2 PCDH15 CDH23
21 deafness, y-linked 1 10.2 TMC2 TMC1 STT3A
22 deafness, autosomal recessive 22 10.2 TMIE MYO15A LHFPL5
23 serous labyrinthitis 10.2 SLC26A4 GJB2
24 labyrinthitis 10.2 SLC26A4 GJB2
25 deafness, autosomal recessive 86 10.2 PCDH15 CDH23
26 deafness, autosomal recessive 79 10.2 TMC1 MYO15A GJB2
27 deafness, autosomal recessive 49 10.2 MYO15A GJB2
28 deafness, autosomal dominant 56 10.2 SLC26A4 GJB2
29 deafness, autosomal recessive 1b 10.2 MYO15A GJB2 ESPN
30 deafness, autosomal recessive 85 10.2 OTOF LHFPL5
31 deafness, autosomal recessive 48 10.2 TMC3 TMC2 TMC1
32 drug-induced hearing loss 10.2 SLC26A4 GJB2
33 deafness, autosomal recessive 30 10.2 PCDH15 MYO15A ESPN
34 deafness, autosomal recessive 18a 10.1 PCDH15 MYO15A CDH23
35 usher syndrome, type iid 10.1 PCDH15 MYO15A CDH23
36 usher syndrome, type if 10.1 PCDH15 MYO15A CDH23
37 usher syndrome, type iic 10.1 PCDH15 MYO15A CDH23
38 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.1 PCDH15 CDH23
39 deafness, autosomal dominant 67 10.1 OTOF GJB2
40 usher syndrome, type iiia 10.1 PCDH15 MYO15A CDH23
41 deafness, autosomal dominant 1, with or without thrombocytopenia 10.1 MYO15A GJB2
42 ear malformation 10.1 SLC26A4 GJB2
43 deafness, x-linked 2 10.1 TMIE SLC26A4 GJB2
44 deafness, autosomal recessive 67 10.1 TMIE TMC2 PCDH15 LHFPL5
45 deafness, autosomal recessive 61 10.0 SLC26A4 OTOF
46 deafness, autosomal recessive 93 10.0 TMIE OTOF GJB2
47 deafness, autosomal dominant 3a 10.0 GSDME GJB2
48 baraitser-winter syndrome 10.0 SLC26A4 CDH23
49 dfnb1 10.0 PCDH15 OTOF GJB2
50 usher syndrome, type ig 10.0 PCDH15 CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 36:



Diseases related to Deafness, Autosomal Dominant 36

Symptoms & Phenotypes for Deafness, Autosomal Dominant 36

Human phenotypes related to Deafness, Autosomal Dominant 36:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 tinnitus 31 HP:0000360

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
tinnitus
hearing loss, sensorineural (high frequency loss followed by low frequency loss leading to profound loss of all frequencies)

Clinical features from OMIM®:

606705 (Updated 05-Apr-2021)

UMLS symptoms related to Deafness, Autosomal Dominant 36:


tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 36:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CDH23 ESPN LHFPL5 MYO15A OTOF PCDH15
2 hearing/vestibular/ear MP:0005377 9.77 CDH23 ESPN GJB2 GSDME KCNQ4 LHFPL5
3 nervous system MP:0003631 9.44 CDH23 ESPN GJB2 GSDME KCNQ4 LHFPL5

Drugs & Therapeutics for Deafness, Autosomal Dominant 36

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 36

Genetic Tests for Deafness, Autosomal Dominant 36

Genetic tests related to Deafness, Autosomal Dominant 36:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 36 29 TMC1

Anatomical Context for Deafness, Autosomal Dominant 36

Publications for Deafness, Autosomal Dominant 36

Articles related to Deafness, Autosomal Dominant 36:

(show all 27)
# Title Authors PMID Year
1
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. 6 54 57 61
17250663 2007
2
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 61 54 57 6
11850618 2002
3
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 61 57 6
24827932 2014
4
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. 61 6 54
19180119 2009
5
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 57 54 61
18616530 2008
6
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. 61 57
11850623 2002
7
RNA Interference Prevents Autosomal-Dominant Hearing Loss. 57
27236922 2016
8
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. 6
18973245 2008
9
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. 61 54
20447146 2010
10
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. 61 54
16287143 2005
11
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. 61 54
15605408 2005
12
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss. 61 54
15354000 2004
13
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population. 61
31854501 2020
14
The contribution of TMC1 to adaptation of mechanoelectrical transduction channels in cochlear outer hair cells. 61
31633194 2019
15
Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss. 61
31270503 2019
16
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss. 61
29654653 2018
17
[Advances in hereditary hearing loss caused by TMC1 mutations]. 61
27033582 2016
18
Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells. 61
26758827 2016
19
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. 61
26079994 2015
20
A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment. 61
25560804 2015
21
Tmc gene therapy restores auditory function in deaf mice. 61
26157030 2015
22
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. 61
24933710 2014
23
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. 61
21252500 2011
24
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. 61
18259073 2008
25
Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36. 61
16648588 2006
26
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. 61
16627570 2006
27
Mouse tales from Kresge: the deafness mouse. 61
14552423 2003

Variations for Deafness, Autosomal Dominant 36

ClinVar genetic disease variations for Deafness, Autosomal Dominant 36:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMC1 NM_138691.2(TMC1):c.1714G>C (p.Asp572His) SNV Pathogenic 4105 rs121908072 GRCh37: 9:75431077-75431077
GRCh38: 9:72816161-72816161
2 TMC1 NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) SNV Pathogenic 183668 rs786201027 GRCh37: 9:75406830-75406830
GRCh38: 9:72791914-72791914
3 TMC1 NM_138691.3(TMC1):c.236+1G>A SNV Pathogenic 504715 rs775428246 GRCh37: 9:75309631-75309631
GRCh38: 9:72694715-72694715
4 ESPN NM_031475.3(ESPN):c.1756dup (p.Ala586fs) Duplication Pathogenic 4424 rs1569712066 GRCh37: 1:6508991-6508992
GRCh38: 1:6448931-6448932
5 TMC1 NM_138691.2(TMC1):c.1165C>T (p.Arg389Ter) SNV Pathogenic 47856 rs151001642 GRCh37: 9:75404174-75404174
GRCh38: 9:72789258-72789258
6 TMC1 NM_138691.3(TMC1):c.1A>G (p.Met1Val) SNV Pathogenic 1034260 GRCh37: 9:75263565-75263565
GRCh38: 9:72648649-72648649
7 TMC1 NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) SNV Likely pathogenic 4102 rs121908072 GRCh37: 9:75431077-75431077
GRCh38: 9:72816161-72816161
8 TMC1 NM_138691.2(TMC1):c.795A>C (p.Thr265=) SNV Uncertain significance 367255 rs140398130 GRCh37: 9:75387382-75387382
GRCh38: 9:72772466-72772466
9 TMC1 NM_138691.2(TMC1):c.1567-14T>G SNV Uncertain significance 165438 rs727503485 GRCh37: 9:75420284-75420284
GRCh38: 9:72805368-72805368
10 TMC1 NM_138691.2(TMC1):c.1263A>G (p.Pro421=) SNV Uncertain significance 178545 rs139985214 GRCh37: 9:75406840-75406840
GRCh38: 9:72791924-72791924
11 TMC1 NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) SNV Uncertain significance 913097 GRCh37: 9:75303654-75303654
GRCh38: 9:72688738-72688738
12 TMC1 NM_138691.2(TMC1):c.145A>C (p.Ile49Leu) SNV Uncertain significance 47861 rs149947445 GRCh37: 9:75309539-75309539
GRCh38: 9:72694623-72694623
13 TMC1 NM_138691.2(TMC1):c.339G>A (p.Met113Ile) SNV Uncertain significance 47871 rs397517840 GRCh37: 9:75315536-75315536
GRCh38: 9:72700620-72700620
14 TMC1 NM_138691.2(TMC1):c.2144A>T (p.Tyr715Phe) SNV Uncertain significance 47868 rs41310067 GRCh37: 9:75445381-75445381
GRCh38: 9:72830465-72830465
15 TMC1 NM_138691.2(TMC1):c.2070G>A (p.Ala690=) SNV Uncertain significance 165441 rs145757452 GRCh37: 9:75441851-75441851
GRCh38: 9:72826935-72826935
16 TMC1 NM_138691.2(TMC1):c.2177C>T (p.Ala726Val) SNV Uncertain significance 594638 rs573874378 GRCh37: 9:75445414-75445414
GRCh38: 9:72830498-72830498
17 TMC1 NM_138691.2(TMC1):c.373A>C (p.Lys125Gln) SNV Uncertain significance 546162 rs377607548 GRCh37: 9:75355045-75355045
GRCh38: 9:72740129-72740129
18 TMC1 NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) SNV Uncertain significance 810384 rs369890353 GRCh37: 9:75431071-75431071
GRCh38: 9:72816155-72816155
19 TMC1 NM_138691.2(TMC1):c.624C>A (p.Ser208Arg) SNV Uncertain significance 417922 rs781747541 GRCh37: 9:75366854-75366854
GRCh38: 9:72751938-72751938
20 TMC1 NM_138691.2(TMC1):c.938T>C (p.Phe313Ser) SNV Uncertain significance 417923 rs1060499599 GRCh37: 9:75403308-75403308
GRCh38: 9:72788392-72788392
21 TMC1 NM_138691.2(TMC1):c.-350C>T SNV Uncertain significance 367246 rs1022291966 GRCh37: 9:75192895-75192895
GRCh38: 9:72577979-72577979
22 TMC1 NM_138691.2(TMC1):c.237-5T>A SNV Uncertain significance 367252 rs1057515622 GRCh37: 9:75315429-75315429
GRCh38: 9:72700513-72700513
23 TMC1 NM_138691.2(TMC1):c.1584A>G (p.Thr528=) SNV Uncertain significance 367257 rs762248733 GRCh37: 9:75420315-75420315
GRCh38: 9:72805399-72805399
24 TMC1 NM_138691.2(TMC1):c.-220C>T SNV Uncertain significance 367249 rs1057515621 GRCh37: 9:75231369-75231369
GRCh38: 9:72616453-72616453
25 TMC1 NM_138691.2(TMC1):c.-252C>T SNV Uncertain significance 367248 rs541857536 GRCh37: 9:75231337-75231337
GRCh38: 9:72616421-72616421
26 TMC1 NM_138691.2(TMC1):c.*93C>T SNV Uncertain significance 367264 rs184207177 GRCh37: 9:75450982-75450982
GRCh38: 9:72836066-72836066
27 TMC1 NM_138691.2(TMC1):c.*51G>A SNV Uncertain significance 367263 rs771430357 GRCh37: 9:75450940-75450940
GRCh38: 9:72836024-72836024
28 TMC1 NM_138691.2(TMC1):c.473G>A (p.Arg158His) SNV Uncertain significance 367253 rs148340276 GRCh37: 9:75357379-75357379
GRCh38: 9:72742463-72742463
29 TMC1 NM_138691.2(TMC1):c.910G>A (p.Gly304Arg) SNV Uncertain significance 367256 rs1008565149 GRCh37: 9:75403280-75403280
GRCh38: 9:72788364-72788364
30 TMC1 NM_138691.2(TMC1):c.2204A>C (p.Lys735Thr) SNV Uncertain significance 367260 rs1057515624 GRCh37: 9:75445441-75445441
GRCh38: 9:72830525-72830525
31 TMC1 NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) SNV Uncertain significance 912787 GRCh37: 9:75403346-75403346
GRCh38: 9:72788430-72788430
32 TMC1 NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) SNV Uncertain significance 912832 GRCh37: 9:75445583-75445583
GRCh38: 9:72830667-72830667
33 TMC1 NM_138691.3(TMC1):c.2276G>A (p.Arg759His) SNV Uncertain significance 912833 GRCh37: 9:75450882-75450882
GRCh38: 9:72835966-72835966
34 TMC1 NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) SNV Uncertain significance 913147 GRCh37: 9:75407119-75407119
GRCh38: 9:72792203-72792203
35 TMC1 NM_138691.3(TMC1):c.*10T>C SNV Uncertain significance 913197 GRCh37: 9:75450899-75450899
GRCh38: 9:72835983-72835983
36 TMC1 NM_138691.3(TMC1):c.-481T>C SNV Uncertain significance 913799 GRCh37: 9:75136776-75136776
GRCh38: 9:72521860-72521860
37 TMC1 NM_138691.3(TMC1):c.-442T>G SNV Uncertain significance 914199 GRCh37: 9:75136815-75136815
GRCh38: 9:72521899-72521899
38 TMC1 NM_138691.3(TMC1):c.-385G>A SNV Uncertain significance 914200 GRCh37: 9:75192860-75192860
GRCh38: 9:72577944-72577944
39 TMC1 NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) SNV Uncertain significance 913148 GRCh37: 9:75420325-75420325
GRCh38: 9:72805409-72805409
40 TMC1 NM_138691.3(TMC1):c.-295A>T SNV Uncertain significance 914692 GRCh37: 9:75231294-75231294
GRCh38: 9:72616378-72616378
41 TMC1 NM_138691.2(TMC1):c.1608C>T (p.Tyr536=) SNV Uncertain significance 367258 rs552170649 GRCh37: 9:75420339-75420339
GRCh38: 9:72805423-72805423
42 TMC1 NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) SNV Uncertain significance 914793 GRCh37: 9:75441792-75441792
GRCh38: 9:72826876-72826876
43 TMC1 NM_138691.3(TMC1):c.*302A>G SNV Uncertain significance 914827 GRCh37: 9:75451191-75451191
GRCh38: 9:72836275-72836275
44 TMC1 NM_138691.2(TMC1):c.2275C>T (p.Arg759Cys) SNV Likely benign 77709 GRCh37: 9:75450881-75450881
GRCh38: 9:72835965-72835965
45 TMC1 NM_138691.3(TMC1):c.*26G>C SNV Likely benign 913198 GRCh37: 9:75450915-75450915
GRCh38: 9:72835999-72835999
46 TMC1 NM_138691.2(TMC1):c.703G>T (p.Ala235Ser) SNV Likely benign 367254 rs200831684 GRCh37: 9:75369762-75369762
GRCh38: 9:72754846-72754846
47 TMC1 NM_138691.2(TMC1):c.1609G>A (p.Val537Ile) SNV Likely benign 367259 rs150206751 GRCh37: 9:75420340-75420340
GRCh38: 9:72805424-72805424
48 TMC1 NM_138691.2(TMC1):c.-124T>C SNV Likely benign 367251 rs533837914 GRCh37: 9:75242908-75242908
GRCh38: 9:72627992-72627992
49 TMC1 NM_138691.2(TMC1):c.924C>G (p.Asp308Glu) SNV Likely benign 286752 rs113342704 GRCh37: 9:75403294-75403294
GRCh38: 9:72788378-72788378
50 TMC1 NM_138691.2(TMC1):c.760G>A (p.Val254Ile) SNV Likely benign 47877 rs111033497 GRCh37: 9:75387347-75387347
GRCh38: 9:72772431-72772431

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 36:

72
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Asp572Asn VAR_014125 rs121908072

Expression for Deafness, Autosomal Dominant 36

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 36.

Pathways for Deafness, Autosomal Dominant 36

GO Terms for Deafness, Autosomal Dominant 36

Cellular components related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 TMIE TMC7 TMC3 TMC2 TMC1 STT3A
2 integral component of plasma membrane GO:0005887 9.87 TMC7 TMC3 TMC2 TMC1 SLC26A4 PCDH15
3 integral component of membrane GO:0016021 9.83 TMIE TMC7 TMC3 TMC2 TMC1 STT3A
4 stereocilium GO:0032420 9.46 PCDH15 MYO15A ESPN CDH23
5 stereocilium bundle GO:0032421 9.37 MYO15A LHFPL5
6 stereocilium tip GO:0032426 8.92 TMC2 TMC1 LHFPL5 ESPN

Biological processes related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.5 TMIE MYO15A KCNQ4
2 ion transport GO:0006811 9.5 TMC7 TMC3 TMC2 TMC1 SLC26A4 LHFPL5
3 sensory perception of light stimulus GO:0050953 9.43 PCDH15 CDH23
4 regulation of calcium ion transmembrane transport GO:1903169 9.4 TMC2 TMC1
5 sensory perception of sound GO:0007605 9.4 TMIE TMC1 SLC26A4 PCDH15 OTOF MYO15A
6 equilibrioception GO:0050957 9.37 PCDH15 CDH23
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.33 TMC2 TMC1 LHFPL5
8 vestibular reflex GO:0060005 9.26 TMC2 TMC1

Molecular functions related to Deafness, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mechanosensitive ion channel activity GO:0008381 8.92 TMC7 TMC3 TMC2 TMC1

Sources for Deafness, Autosomal Dominant 36

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
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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