DFNB7
MCID: DFN127
MIFTS: 38

Deafness, Autosomal Recessive 7 (DFNB7)

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

Aliases & Classifications for Deafness, Autosomal Recessive 7

MalaCards integrated aliases for Deafness, Autosomal Recessive 7:

Name: Deafness, Autosomal Recessive 7 56 29 13 6 71
Dfnb7 56 12 73 54
Dfnb11 56 12 73
Autosomal Recessive Nonsyndromic Deafness 7 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 73
Deafness Neurosensory Autosomal Recessive 11 73
Deafness Neurosensory Autosomal Recessive 7 73
Deafness, Autosomal Recessive 11; Dfnb11 56
Deafness, Autosomal Recessive, Type 7 39
Deafness, Autosomal Recessive 11 56
Deafness, Autosomal Recessive, 7 73
Autosomal Recessive Deafness 7 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive.


HPO:

31
deafness, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110520
OMIM 56 600974
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832978
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C1832978

Summaries for Deafness, Autosomal Recessive 7

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 7: 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.

MalaCards based summary : Deafness, Autosomal Recessive 7, also known as dfnb7, is related to nonsyndromic deafness and deafness, autosomal recessive 3. An important gene associated with Deafness, Autosomal Recessive 7 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the TMC1 gene on chromosome 9q21.

More information from OMIM: 600974 PS220290

Related Diseases for Deafness, Autosomal Recessive 7

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 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
Nonsyndromic Deafness 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 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 26.5 TMIE TMC2 TMC1 SLC26A4 PJVK OTOF
2 deafness, autosomal recessive 3 10.4 MYO15A GJB2
3 deafness, autosomal dominant 1 10.4 MYO15A GJB2
4 non-syndromic genetic deafness 10.3 MYO15A GJB2
5 dfnb1 10.3 OTOF GJB2
6 deafness, autosomal dominant 16 10.3 TMIE TMC1
7 deafness, autosomal dominant 17 10.3 OTOF MYO15A
8 drug-induced hearing loss 10.3 TMC2 CDH23
9 deafness, autosomal dominant 67 10.3 OTOF GJB2
10 deafness, autosomal dominant 2b 10.3 SLC26A4 GJB2
11 labyrinthitis 10.2 SLC26A4 GJB2
12 deafness, autosomal recessive 29 10.2 MYO15A GJB2
13 deafness, autosomal dominant 56 10.2 SLC26A4 GJB2
14 deafness, autosomal dominant 27 10.2 TMIE CDH23
15 deafness, autosomal recessive 13 10.2 TMC1 PJVK
16 ear malformation 10.2 SLC26A4 GJB2
17 deafness, autosomal dominant 25 10.2 OTOF GJB2
18 usher syndrome, type iid 10.2 MYO15A CDH23
19 deafness, autosomal recessive 79 10.2 TMC1 MYO15A GJB2
20 auditory neuropathy spectrum disorder 10.2 PJVK OTOF
21 deafness, autosomal recessive 93 10.1 PJVK GJB2
22 x-linked nonsyndromic deafness 10.1 SLC26A4 GJB2
23 deafness, autosomal recessive 25 10.1 PJVK MYO15A
24 deafness, autosomal recessive 30 10.1 PJVK MYO15A
25 deafness, autosomal recessive 15 10.1 PJVK MYO15A
26 usher syndrome, type if 10.1 MYO15A CDH23
27 deafness, autosomal dominant 3b 10.1 OTOA GJB2
28 baraitser-winter syndrome 10.1 SLC26A4 CDH23
29 peripheral vertigo 10.1 SLC26A4 GJB2
30 deafness, autosomal dominant 11 10.1 MYO15A GJB2 CDH23
31 deafness, autosomal recessive 39 10.0 OTOA GJB2
32 deafness, autosomal recessive 48 10.0 TMC3 TMC2 TMC1
33 epidermodysplasia verruciformis 1 10.0 TMC3 TMC2 TMC1
34 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 TMC1 GJB2
35 deafness, autosomal recessive 27 10.0 TMIE TMC1 PJVK
36 inner ear disease 10.0 SLC26A4 GJB2 CDH23
37 usher syndrome, type iic 10.0 MYO15A CDH23
38 deafness, autosomal recessive 59 10.0 PJVK OTOF GJB2
39 auditory neuropathy, autosomal dominant, 1 10.0 PJVK OTOF GJB2
40 deafness, autosomal recessive 85 9.9 PJVK OTOA
41 autosomal recessive nonsyndromic deafness 32 9.9 PJVK OTOA
42 deafness, autosomal dominant 6 9.9 SLC26A4 PJVK GJB2
43 otosclerosis 9.9 SLC26A4 PJVK GJB2
44 deafness, autosomal recessive 23 9.9 TMC1 MYO15A GJB2 CDH23
45 erythrokeratodermia variabilis et progressiva 1 9.8 TMIE OTOA GJB2
46 deafness, autosomal dominant 40 9.8 OTOA CDH23
47 deafness, autosomal recessive 61 9.8 SLC26A4 OTOF OTOA
48 usher syndrome, type iia 9.8 SLC26A4 OTOF MYO15A CDH23
49 branchiootorenal syndrome 9.8 SLC26A4 GJB2
50 usher syndrome, type ic 9.6 TMIE TMC2 TMC1 GJB2 CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 7:



Diseases related to Deafness, Autosomal Recessive 7

Symptoms & Phenotypes for Deafness, Autosomal Recessive 7

Human phenotypes related to Deafness, Autosomal Recessive 7:

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

Symptoms via clinical synopsis from OMIM:

56
Ears:
neurosensory nonsyndromic hearing impairment.

Clinical features from OMIM:

600974

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CDH23 LRTOMT MYO15A OTOF PJVK SLC26A4
2 hearing/vestibular/ear MP:0005377 9.7 CDH23 GJB2 LRTOMT MYO15A OTOA OTOF
3 nervous system MP:0003631 9.36 CDH23 GJB2 LRTOMT MYO15A OTOA OTOF

Drugs & Therapeutics for Deafness, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 7

Genetic Tests for Deafness, Autosomal Recessive 7

Genetic tests related to Deafness, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 7 29 TMC1

Anatomical Context for Deafness, Autosomal Recessive 7

MalaCards organs/tissues related to Deafness, Autosomal Recessive 7:

40
Brain

Publications for Deafness, Autosomal Recessive 7

Articles related to Deafness, Autosomal Recessive 7:

(show all 38)
# Title Authors PMID Year
1
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. 54 61 56 6
17877751 2007
2
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 54 61 56 6
11850618 2002
3
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 54 61 56
18616530 2008
4
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. 61 56
8755925 1996
5
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
6
Nonsyndromic hearing impairment: unparalleled heterogeneity. 56
9106521 1997
7
A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. 56
8634715 1995
8
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 54 61
19187973 2009
9
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. 54 61
16287143 2005
10
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. 54 61
15605408 2005
11
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population. 61
31854501 2019
12
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. 61
31700827 2019
13
Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function. 61
30108230 2018
14
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss. 61
29654653 2018
15
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India. 61
28862181 2017
16
Recessive mutations of TMC1 associated with moderate to severe hearing loss. 61
26879195 2016
17
Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran. 61
27247785 2016
18
[Advances in hereditary hearing loss caused by TMC1 mutations]. 61
27033582 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
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing. 61
25423259 2015
23
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. 61
24933710 2014
24
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 61
24827932 2014
25
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect. 61
23523375 2013
26
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians. 61
22288896 2012
27
Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene. 61
22330676 2012
28
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. 61
23113071 2011
29
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. 61
21252500 2011
30
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. 61
21250555 2010
31
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. 61
18259073 2008
32
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. 61
16627570 2006
33
Mouse tales from Kresge: the deafness mouse. 61
14552423 2003
34
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. 61
11850623 2002
35
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. 61
10767548 2000
36
The mouse deafness locus (dn) is associated with an inversion on chromosome 19. 61
9748617 1998
37
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. 61
9758550 1998
38
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. 61
9314493 1997

Variations for Deafness, Autosomal Recessive 7

ClinVar genetic disease variations for Deafness, Autosomal Recessive 7:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMC1 NM_138691.2(TMC1):c.1939T>C (p.Ser647Pro)SNV Pathogenic 228408 rs138527651 9:75435933-75435933 9:72821017-72821017
2 TMC1 NM_138691.2(TMC1):c.16+1G>TSNV Pathogenic 4106 9:75263581-75263581 9:72648665-72648665
3 TMC1 NM_138691.2(TMC1):c.100C>T (p.Arg34Ter)SNV Pathogenic 4103 rs121908073 9:75309494-75309494 9:72694578-72694578
4 TMC1 NM_138691.2(TMC1):c.1960A>G (p.Met654Val)SNV Pathogenic 4104 rs121908074 9:75435954-75435954 9:72821038-72821038
5 TMC1 NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg)SNV Pathogenic 4107 rs121908076 9:75407245-75407245 9:72792329-72792329
6 TMC1 NM_138691.2(TMC1):c.15dup (p.Val6fs)duplication Pathogenic 236041 rs878853229 9:75263573-75263574 9:72648657-72648658
7 TMC1 NM_138691.2(TMC1):c.229del (p.Arg77fs)deletion Pathogenic 236042 rs878853230 9:75309623-75309623 9:72694707-72694707
8 TMC1 NM_138691.2(TMC1):c.1143C>G (p.Tyr381Ter)SNV Pathogenic 562098 rs757327146 9:75404152-75404152 9:72789236-72789236
9 TMC1 NM_138691.2(TMC1):c.1220dup (p.Asn407fs)duplication Pathogenic 562091 rs1564555185 9:75404222-75404223 9:72789306-72789307
10 TMC1 NM_138691.2(TMC1):c.1259G>A (p.Cys420Tyr)SNV Pathogenic 619172 rs1564556995 9:75406836-75406836 9:72791920-72791920
11 TMC1 NM_138691.2(TMC1):c.885-2A>CSNV Pathogenic 620585 rs1564554148 9:75403253-75403253 9:72788337-72788337
12 TMC1 NM_138691.2(TMC1):c.2218G>T (p.Glu740Ter)SNV Pathogenic 627481 rs1564583413 9:75445556-75445556 9:72830640-72830640
13 TMC1 NM_138691.2(TMC1):c.1532C>T (p.Pro511Leu)SNV Pathogenic 402278 rs727503483 9:75407234-75407234 9:72792318-72792318
14 TMC1 NM_138691.2(TMC1):c.236+1G>ASNV Pathogenic/Likely pathogenic 504715 rs775428246 9:75309631-75309631 9:72694715-72694715
15 TMC1 NM_138691.2(TMC1):c.1114G>A (p.Val372Met)SNV Conflicting interpretations of pathogenicity 287884 rs367924428 9:75404123-75404123 9:72789207-72789207
16 TMC1 NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys)SNV Conflicting interpretations of pathogenicity 179070 rs372710475 9:75406910-75406910 9:72791994-72791994
17 TMC1 NM_138691.2(TMC1):c.1763+3A>GSNV Conflicting interpretations of pathogenicity 47864 rs370898981 9:75431129-75431129 9:72816213-72816213
18 TMC1 NM_138691.2(TMC1):c.1567-14T>GSNV Uncertain significance 165438 rs727503485 9:75420284-75420284 9:72805368-72805368
19 TMC1 NM_138691.2(TMC1):c.624C>A (p.Ser208Arg)SNV Uncertain significance 417922 rs781747541 9:75366854-75366854 9:72751938-72751938
20 TMC1 NM_138691.2(TMC1):c.938T>C (p.Phe313Ser)SNV Uncertain significance 417923 rs1060499599 9:75403308-75403308 9:72788392-72788392
21 TMC1 NM_138691.2(TMC1):c.596A>T (p.Asn199Ile)SNV Uncertain significance 634812 rs756960425 9:75366826-75366826 9:72751910-72751910
22 TMC1 NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn)SNV Uncertain significance 802487 9:75445400-75445400 9:72830484-72830484

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 7:

73
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Met654Val VAR_014126 rs121908074

Expression for Deafness, Autosomal Recessive 7

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 7.

Pathways for Deafness, Autosomal Recessive 7

GO Terms for Deafness, Autosomal Recessive 7

Cellular components related to Deafness, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.9 TMIE TMC3 TMC2 TMC1 SLC26A4 PJVK
2 integral component of membrane GO:0016021 9.32 TMIE TMC3 TMC2 TMC1 SLC26A4 PJVK
3 stereocilium GO:0032420 9.26 MYO15A CDH23
4 stereocilium tip GO:0032426 8.96 TMC2 TMC1

Biological processes related to Deafness, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 TMC3 TMC2 TMC1 SLC26A4
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 TMC2 TMC1
3 sensory perception of sound GO:0007605 9.32 TMIE TMC1 SLC26A4 PJVK OTOF OTOA
4 regulation of calcium ion transmembrane transport GO:1903169 9.26 TMC2 TMC1
5 auditory receptor cell development GO:0060117 9.16 TMC1 LRTOMT
6 vestibular reflex GO:0060005 8.96 TMC2 TMC1

Molecular functions related to Deafness, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 9.16 TMC2 TMC1
2 ion channel activity GO:0005216 9.13 TMC3 TMC2 TMC1
3 mechanosensitive ion channel activity GO:0008381 8.8 TMC3 TMC2 TMC1

Sources for Deafness, Autosomal Recessive 7

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