DFNB6
MCID: DFN124
MIFTS: 35

Deafness, Autosomal Recessive 6 (DFNB6)

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

Aliases & Classifications for Deafness, Autosomal Recessive 6

MalaCards integrated aliases for Deafness, Autosomal Recessive 6:

Name: Deafness, Autosomal Recessive 6 57 29 13 6 70
Dfnb6 57 12 72
Neurosensory Nonsyndromic Recessive Deafness 6 57 72
Autosomal Recessive Nonsyndromic Deafness 6 12 15
Nsrd6 57 72
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 72
Neurosensory Nonsyndromic Recessive Deafness 6; Nsrd6 57
Deafness Neurosensory Autosomal Recessive 6 72
Deafness, Autosomal Recessive, Type 6 39
Deafness, Autosomal Recessive, 6 72
Autosomal Recessive Deafness 6 12

Characteristics:

OMIM®:

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

Miscellaneous:
congenital or prelingual onset


HPO:

31
deafness, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110512
OMIM® 57 600971
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832992
UMLS 70 C1832992

Summaries for Deafness, Autosomal Recessive 6

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 6: 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 6, also known as dfnb6, is related to branchiootic syndrome 1 and deafness, autosomal recessive 9. An important gene associated with Deafness, Autosomal Recessive 6 is TMIE (Transmembrane Inner Ear). Related phenotypes are 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 TMIE gene on chromosome 3p21.

More information from OMIM: 600971 PS220290

Related Diseases for Deafness, Autosomal Recessive 6

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 Recessive 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.7 PJVK CDH23
2 deafness, autosomal recessive 9 28.6 TRIOBP TMIE PJVK LRTOMT CDH23
3 nonsyndromic hearing loss 28.5 TRIOBP TMIE PJVK LHFPL5 CDH23
4 sensorineural hearing loss 28.4 TRIOBP TMIE OTOA LRTOMT LHFPL5 CDH23
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.7 TRIOBP TMIE PJVK OTOA LRTOMT LHFPL5
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
7 y-linked monogenic disease 10.1 TMIE CDH23
8 usher syndrome, type ic 10.0 TMIE CDH23
9 deafness, autosomal dominant 3b 10.0 OTOA LHFPL5
10 deafness, autosomal dominant 2b 10.0 TRIOBP CABP2
11 deafness, autosomal recessive 91 9.9 OTOA CDH23
12 deafness, autosomal recessive 66 9.9 OTOA LHFPL5
13 deafness, autosomal recessive 27 9.9 TMIE PJVK
14 erythrokeratodermia variabilis et progressiva 1 9.9 TMIE OTOA
15 deafness, autosomal recessive 61 9.9 TRIOBP OTOA
16 deafness, autosomal recessive 2 9.9 PJVK CDH23
17 deafness, autosomal recessive 39 9.9 TRIOBP OTOA
18 deafness, autosomal dominant 36 9.8 TMIE LHFPL5 CDH23
19 usher syndrome, type id 9.8 TMIE LHFPL5 CDH23
20 autosomal recessive nonsyndromic deafness 32 9.8 PJVK OTOA
21 charcot-marie-tooth disease x-linked recessive 4 9.8 PJVK CABP2
22 deafness, autosomal recessive 25 9.7 TRIOBP PJVK
23 deafness, autosomal recessive 1a 9.7 PJVK OTOA
24 non-syndromic genetic deafness 9.7 TRIOBP CDH23
25 deafness, autosomal recessive 53 9.7 PJVK LRTOMT LHFPL5
26 autosomal recessive nonsyndromic deafness 3 9.6 PJVK LRTOMT CDH23
27 usher syndrome, type iia 9.6 OTOA CDH23
28 deafness, autosomal recessive 21 9.6 PJVK OTOA LRTOMT
29 deafness, autosomal recessive 85 9.6 PJVK OTOA LHFPL5
30 deafness, autosomal recessive 16 9.6 TMIE OTOA LHFPL5 CDH23
31 deafness, autosomal recessive 77 9.6 PJVK LHFPL5 CDH23
32 deafness, autosomal recessive 24 9.6 TRIOBP PJVK LRTOMT
33 usher syndrome type 2 9.6 TMIE OTOA LHFPL5 CDH23
34 deafness, autosomal recessive 28 9.6 TRIOBP TMIE OTOA CABP2
35 autosomal recessive nonsyndromic deafness 9.4 TRIOBP TMIE LRTOMT LHFPL5 CDH23
36 deafness, autosomal recessive 83 9.3 PJVK OTOA LHFPL5 CDH23
37 deafness, autosomal recessive 67 9.3 TMIE PJVK LRTOMT LHFPL5 CABP2
38 deafness, autosomal recessive 7 9.3 TMIE PJVK LRTOMT LHFPL5 CDH23
39 deafness, autosomal recessive 63 9.3 TMIE PJVK OTOA LRTOMT LHFPL5
40 deafness, autosomal recessive 93 9.2 TRIOBP TMIE PJVK LRTOMT CABP2
41 rare genetic deafness 9.2 TMIE PJVK OTOA LRTOMT CDH23
42 deafness, autosomal recessive 22 9.1 TRIOBP TMIE PJVK OTOA LHFPL5
43 usher syndrome, type i 9.1 TRIOBP TMIE PJVK LHFPL5 CDH23
44 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.1 TRIOBP TMIE PJVK OTOA CDH23
45 auditory system disease 8.8 TRIOBP TMIE PJVK OTOA LHFPL5 CDH23
46 deafness, autosomal recessive 35 8.7 TRIOBP TMIE PJVK OTOA LRTOMT CDH23
47 deafness, autosomal recessive 12 8.6 TRIOBP TMIE PJVK OTOA LRTOMT LHFPL5
48 usher syndrome 8.6 TRIOBP TMIE PJVK OTOA LRTOMT LHFPL5
49 deafness, autosomal recessive 8.6 TRIOBP TMIE PJVK OTOA LHFPL5 CDH23
50 autosomal dominant nonsyndromic deafness 8.6 TRIOBP TMIE PJVK OTOA LHFPL5 CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 6:



Diseases related to Deafness, Autosomal Recessive 6

Symptoms & Phenotypes for Deafness, Autosomal Recessive 6

Human phenotypes related to Deafness, Autosomal Recessive 6:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 obligate (100%) HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, severe to profound

Clinical features from OMIM®:

600971 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CABP2 CDH23 LHFPL5 LRTOMT PJVK TMIE
2 hearing/vestibular/ear MP:0005377 9.56 CABP2 CDH23 LHFPL5 LRTOMT OTOA PJVK
3 nervous system MP:0003631 9.23 CABP2 CDH23 LHFPL5 LRTOMT OTOA PJVK

Drugs & Therapeutics for Deafness, Autosomal Recessive 6

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 6

Genetic Tests for Deafness, Autosomal Recessive 6

Genetic tests related to Deafness, Autosomal Recessive 6:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 6 29 TMIE

Anatomical Context for Deafness, Autosomal Recessive 6

Publications for Deafness, Autosomal Recessive 6

Articles related to Deafness, Autosomal Recessive 6:

(show all 21)
# Title Authors PMID Year
1
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. 6 57 61
19438934 2009
2
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. 6 61 57
12145746 2002
3
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. 61 6 57
8593615 1995
4
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. 57 61
12140191 2002
5
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. 57 61
8789454 1996
6
Genes responsible for human hereditary deafness: symphony of a thousand. 57
8944017 1996
7
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss. 61
33269433 2020
8
Design of potential probiotic yeast starters tailored for making a cornelian cherry (Cornus mas L.) functional beverage. 61
32222654 2020
9
Over-expression of myosin7A in cochlear hair cells of circling mice. 61
28400833 2017
10
Inhibition of K+ outward currents by linopirdine in the cochlear outer hair cells of circling mice within the first postnatal week. 61
28280419 2017
11
Characteristics of K(+) Outward Currents in the Cochlear Outer Hair Cells of Circling Mice within the First Postnatal Week. 61
26170743 2015
12
Vesicular glutamate transporter 3 is strongly upregulated in cochlear inner hair cells and spiral ganglion cells of developing circling mice. 61
25450145 2015
13
Expression of deafness protein Tmie in postnatal developmental stages of C57BL/6J mice. 61
22787490 2012
14
Subcellular localization of the transmembrane inner ear (Tmie) protein in a stable Tmie-expressing cell line. 61
22232643 2011
15
Spatiotemporal expression of tmie in the inner ear of rats during postnatal development. 61
20819378 2010
16
Ectopic expression of tmie transgene induces various recovery levels of behavior and hearing ability in the circling mouse. 61
18586001 2008
17
Expression and localization of Tmie in adult rat cochlea. 61
18327602 2008
18
Cochlear pathology of the circling mouse: a new mouse model of DFNB6. 61
17364360 2007
19
Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9. 61
14727813 2003
20
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. 61
11247665 2001
21
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 61
10234513 1999

Variations for Deafness, Autosomal Recessive 6

ClinVar genetic disease variations for Deafness, Autosomal Recessive 6:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMIE NM_001370524.1(TMIE):c.-38_-35del Deletion Pathogenic 3389 rs876661301 GRCh37: 3:46747307-46747310
GRCh38: 3:46705817-46705820
2 TMIE NM_147196.2(TMIE):c.94-2_98delinsC Indel Pathogenic 3393 rs876657371 GRCh37: 3:46747278-46747284
GRCh38: 3:46705788-46705794
3 TMIE NM_147196.2(TMIE):c.170G>A (p.Trp57Ter) SNV Pathogenic 3394 rs267607120 GRCh37: 3:46747356-46747356
GRCh38: 3:46705866-46705866
4 TMIE NM_147196.2(TMIE):c.241C>T (p.Arg81Cys) SNV Pathogenic 3390 rs28942096 GRCh37: 3:46750645-46750645
GRCh38: 3:46709155-46709155
5 TMIE NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) SNV Pathogenic 3391 rs28942097 GRCh37: 3:46750654-46750654
GRCh38: 3:46709164-46709164
6 TMIE NM_147196.3(TMIE):c.390del (p.Lys131fs) Deletion Pathogenic 1027778 GRCh37: 3:46751097-46751097
GRCh38: 3:46709607-46709607
7 TMIE NM_147196.3(TMIE):c.392_393del (p.Lys131fs) Deletion Pathogenic 1027779 GRCh37: 3:46751099-46751100
GRCh38: 3:46709609-46709610
8 TMIE NM_147196.2(TMIE):c.274C>T (p.Arg92Trp) SNV Conflicting interpretations of pathogenicity 3392 rs28941781 GRCh37: 3:46750678-46750678
GRCh38: 3:46709188-46709188
9 TMIE NM_147196.2(TMIE):c.*767G>A SNV Uncertain significance 345556 rs557803959 GRCh37: 3:46751945-46751945
GRCh38: 3:46710455-46710455
10 TMIE NM_147196.2(TMIE):c.191C>T (p.Ser64Leu) SNV Uncertain significance 165460 rs189895472 GRCh37: 3:46747377-46747377
GRCh38: 3:46705887-46705887
11 TMIE NM_147196.2(TMIE):c.219G>A (p.Thr73=) SNV Uncertain significance 228014 rs202208051 GRCh37: 3:46750623-46750623
GRCh38: 3:46709133-46709133
12 TMIE NM_147196.2(TMIE):c.*687C>T SNV Uncertain significance 345553 rs886058575 GRCh37: 3:46751865-46751865
GRCh38: 3:46710375-46710375
13 TMIE NM_147196.2(TMIE):c.-154G>A SNV Uncertain significance 345546 rs527373499 GRCh37: 3:46742824-46742824
GRCh38: 3:46701334-46701334
14 TMIE NM_147196.2(TMIE):c.144A>G (p.Thr48=) SNV Uncertain significance 345548 rs886058573 GRCh37: 3:46747330-46747330
GRCh38: 3:46705840-46705840
15 TMIE NM_147196.2(TMIE):c.*691G>A SNV Uncertain significance 345554 rs569720565 GRCh37: 3:46751869-46751869
GRCh38: 3:46710379-46710379
16 TMIE NM_147196.2(TMIE):c.*313C>T SNV Uncertain significance 345551 rs559640559 GRCh37: 3:46751491-46751491
GRCh38: 3:46710001-46710001
17 TMIE NM_147196.2(TMIE):c.*829G>T SNV Uncertain significance 345557 rs576080937 GRCh37: 3:46752007-46752007
GRCh38: 3:46710517-46710517
18 TMIE NM_147196.2(TMIE):c.*612C>T SNV Uncertain significance 345552 rs747060976 GRCh37: 3:46751790-46751790
GRCh38: 3:46710300-46710300
19 TMIE NM_147196.2(TMIE):c.*905G>A SNV Uncertain significance 345558 rs886058576 GRCh37: 3:46752083-46752083
GRCh38: 3:46710593-46710593
20 TMIE NM_147196.3(TMIE):c.-73C>T SNV Uncertain significance 900351 GRCh37: 3:46742905-46742905
GRCh38: 3:46701415-46701415
21 TMIE NM_147196.3(TMIE):c.-8G>T SNV Uncertain significance 900352 GRCh37: 3:46742970-46742970
GRCh38: 3:46701480-46701480
22 TMIE NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) SNV Uncertain significance 900353 GRCh37: 3:46743041-46743041
GRCh38: 3:46701551-46701551
23 TMIE NM_147196.3(TMIE):c.*974C>T SNV Uncertain significance 900406 GRCh37: 3:46752152-46752152
GRCh38: 3:46710662-46710662
24 TMIE NM_147196.3(TMIE):c.192G>A (p.Ser64=) SNV Uncertain significance 901505 GRCh37: 3:46747378-46747378
GRCh38: 3:46705888-46705888
25 TMIE NM_147196.3(TMIE):c.413C>T (p.Ala138Val) SNV Uncertain significance 901506 GRCh37: 3:46751120-46751120
GRCh38: 3:46709630-46709630
26 TMIE NM_147196.3(TMIE):c.*47T>A SNV Uncertain significance 902077 GRCh37: 3:46751225-46751225
GRCh38: 3:46709735-46709735
27 TMIE NM_147196.3(TMIE):c.*94A>C SNV Uncertain significance 902078 GRCh37: 3:46751272-46751272
GRCh38: 3:46709782-46709782
28 TMIE NM_147196.3(TMIE):c.*148A>G SNV Uncertain significance 902079 GRCh37: 3:46751326-46751326
GRCh38: 3:46709836-46709836
29 TMIE NM_147196.3(TMIE):c.*253G>A SNV Uncertain significance 902080 GRCh37: 3:46751431-46751431
GRCh38: 3:46709941-46709941
30 TMIE NM_147196.3(TMIE):c.*260C>A SNV Uncertain significance 902081 GRCh37: 3:46751438-46751438
GRCh38: 3:46709948-46709948
31 TMIE NM_147196.3(TMIE):c.*642C>T SNV Uncertain significance 902957 GRCh37: 3:46751820-46751820
GRCh38: 3:46710330-46710330
32 TMIE NM_147196.3(TMIE):c.*671G>A SNV Uncertain significance 902958 GRCh37: 3:46751849-46751849
GRCh38: 3:46710359-46710359
33 TMIE NM_147196.3(TMIE):c.*719G>A SNV Uncertain significance 902959 GRCh37: 3:46751897-46751897
GRCh38: 3:46710407-46710407
34 TMIE NM_147196.3(TMIE):c.*803C>T SNV Uncertain significance 902960 GRCh37: 3:46751981-46751981
GRCh38: 3:46710491-46710491
35 TMIE NM_147196.2(TMIE):c.366T>G (p.Asp122Glu) SNV Uncertain significance 47960 rs370899710 GRCh37: 3:46751073-46751073
GRCh38: 3:46709583-46709583
36 TMIE NM_147196.2(TMIE):c.34G>T (p.Val12Leu) SNV Uncertain significance 47959 rs397517867 GRCh37: 3:46743011-46743011
GRCh38: 3:46701521-46701521
37 TMIE NM_147196.2(TMIE):c.102G>A (p.Thr34=) SNV Uncertain significance 47956 rs201107982 GRCh37: 3:46747288-46747288
GRCh38: 3:46705798-46705798
38 TMIE NM_147196.2(TMIE):c.206C>T (p.Ser69Phe) SNV Uncertain significance 287642 rs188085072 GRCh37: 3:46747392-46747392
GRCh38: 3:46705902-46705902
39 TMIE NM_147196.2(TMIE):c.174C>T (p.His58=) SNV Uncertain significance 165459 rs373379198 GRCh37: 3:46747360-46747360
GRCh38: 3:46705870-46705870
40 TMIE NM_147196.2(TMIE):c.*695G>A SNV Likely benign 345555 rs77244938 GRCh37: 3:46751873-46751873
GRCh38: 3:46710383-46710383
41 TMIE NM_147196.2(TMIE):c.*51C>T SNV Likely benign 345550 rs56002857 GRCh37: 3:46751229-46751229
GRCh38: 3:46709739-46709739
42 TMIE NM_147196.2(TMIE):c.-37C>A SNV Likely benign 345547 rs530579940 GRCh37: 3:46742941-46742941
GRCh38: 3:46701451-46701451
43 TMIE NM_147196.2(TMIE):c.*975G>A SNV Benign 345559 rs4683315 GRCh37: 3:46752153-46752153
GRCh38: 3:46710663-46710663
44 TMIE NM_147196.3(TMIE):c.367_369AAG[8] (p.Lys131del) Microsatellite Benign 47962 rs10578999 GRCh37: 3:46751074-46751076
GRCh38: 3:46709584-46709586

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 6:

72
# Symbol AA change Variation ID SNP ID
1 TMIE p.Arg81Cys VAR_021524 rs28942096
2 TMIE p.Arg84Trp VAR_021525 rs28942097
3 TMIE p.Arg92Trp VAR_021526 rs28941781

Expression for Deafness, Autosomal Recessive 6

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 6.

Pathways for Deafness, Autosomal Recessive 6

GO Terms for Deafness, Autosomal Recessive 6

Cellular components related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium base GO:0120044 8.62 TRIOBP PJVK

Biological processes related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 TRIOBP TMIE PJVK OTOA LRTOMT LHFPL5
2 auditory receptor cell stereocilium organization GO:0060088 9.16 TRIOBP LHFPL5
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 PJVK LHFPL5

Sources for Deafness, Autosomal Recessive 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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