DFNA6
MCID: DFN351
MIFTS: 39

Deafness, Autosomal Dominant 6 (DFNA6)

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

Aliases & Classifications for Deafness, Autosomal Dominant 6

MalaCards integrated aliases for Deafness, Autosomal Dominant 6:

Name: Deafness, Autosomal Dominant 6 56 71
Dfna6 56 12 73 54
Deafness, Autosomal Dominant 6/14/38 56 29 13
Dfna14 56 12 73
Dfna38 56 12 73
Autosomal Dominant Nonsyndromic Deafness 6 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 73
Deafness, Autosomal Dominant 14; Dfna14 56
Deafness, Autosomal Dominant 38; Dfna38 56
Deafness, Autosomal Dominant 14 56
Deafness, Autosomal Dominant 38 56
Deafness, Autosomal Dominant, 6 73
Autosomal Dominant Deafness 14 12
Autosomal Dominant Deafness 38 12
Deafness Autosomal Dominant 14 73
Deafness Autosomal Dominant 38 73
Autosomal Dominant Deafness 6 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110584
OMIM 56 600965
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1833021
SNOMED-CT via HPO 68 263681008
UMLS 71 C1833021

Summaries for Deafness, Autosomal Dominant 6

OMIM : 56 Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 (124900), caused by mutations in the DIAPH1 gene (602121), is associated with progression to profound deafness by the fourth decade of life (summary by Bespalova et al., 2001). (600965)

MalaCards based summary : Deafness, Autosomal Dominant 6, also known as dfna6, is related to wolfram syndrome 1 and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 6 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and low-frequency sensorineural hearing impairment

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has material basis in mutation in the WFS1 gene on chromosome 4p16.

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.

Related Diseases for Deafness, Autosomal Dominant 6

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 1 30.0 WFS1 CISD2
2 branchiootic syndrome 1 29.2 SLC26A4 PJVK MYO7A GJB2
3 deafness, autosomal dominant 54 29.0 WFS1 POU4F3 MYH14 GJB2 DIAPH1
4 deafness, autosomal dominant 1 28.8 WFS1 POU4F3 MYO7A MYH14 GJB2 DIAPH1
5 autosomal dominant non-syndromic sensorineural deafness type dfna 27.5 WFS1 POU4F3 MYO7A MYH14 KCNQ4 GSDME
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 deafness, autosomal dominant 53 10.2 POU4F3 COCH
8 deafness, autosomal dominant 44 10.2 WFS1 GSDME COL11A2
9 deafness, autosomal dominant 20 10.2 POU4F3 GSDME
10 wolfram syndrome 10.2
11 wfs1-related disorders 10.2
12 3-methylglutaconic aciduria, type iii 10.2
13 drug-induced hearing loss 10.1 POU4F3 MYO7A
14 cogan syndrome 10.1 GJB2 COCH
15 deafness, autosomal dominant 67 10.1 GJB2 DIAPH1
16 deafness, autosomal dominant 28 10.1 KCNQ4 GSDME COCH
17 hereditary hearing loss and deafness 10.1 DIAPH1 COL11A2 COCH
18 deafness, autosomal recessive 3 10.1 MYO7A GJB2
19 dfnb1 10.1 MYO7A GJB2
20 auditory neuropathy spectrum disorder 10.1 PJVK MYO7A
21 deafness, autosomal dominant 3a 10.0 GSDME GJB2 COCH
22 deafness, autosomal recessive 91 10.0 GSDME GJB2 COCH
23 deafness, autosomal recessive 93 10.0 PJVK GJB2
24 deafness, autosomal recessive 59 10.0 PJVK GJB2
25 non-syndromic genetic deafness 10.0 KCNQ4 GJB2 COCH
26 deafness, autosomal recessive 63 10.0 PJVK MYO7A
27 deafness, autosomal recessive 21 10.0 PJVK GJB2
28 deafness, autosomal dominant 2a 9.9 KCNQ4 GJB2 COCH
29 deafness, autosomal dominant 18 9.9 KCNQ4 GSDME COL11A2 COCH
30 deafness, autosomal dominant 13 9.9 KCNQ4 GSDME COL11A2 COCH
31 deafness, autosomal dominant 12 9.9 KCNQ4 GSDME COL11A2 COCH
32 deafness, autosomal recessive 101 9.9 POU4F3 PJVK DIAPH1
33 deafness, autosomal recessive 23 9.9 MYO7A GJB2
34 deafness, autosomal recessive 30 9.9 PJVK MYO7A
35 deafness, autosomal recessive 49 9.9 PJVK GJB2
36 deafness, autosomal dominant 41 9.9 POU4F3 KCNQ4 GSDME COCH
37 deafness, autosomal dominant 36 9.8 SLC26A4 GJB2
38 usher syndrome, type ic 9.8 MYO7A GJB2
39 wolfram syndrome 2 9.8 WFS1 CISD2
40 auditory neuropathy, autosomal dominant, 1 9.8 PJVK GJB2 DIAPH1
41 ear malformation 9.8 SLC26A4 GJB2
42 deafness, autosomal dominant 48 9.8 MYO7A MYH14
43 deafness, autosomal dominant 21 9.8 MYH14 GSDME COL11A2
44 deafness, autosomal dominant 10 9.7 MYH14 GSDME COL11A2
45 deafness, autosomal dominant 56 9.7 SLC26A4 GJB2 COCH
46 peripheral vertigo 9.7 SLC26A4 GJB2 COCH
47 waardenburg syndrome, type 1 9.7 WFS1 GSDME GJB2 CISD2
48 hodgkin's lymphoma, nodular sclerosis 9.6 SLC26A4 MYO7A GJB2
49 deafness, autosomal recessive 12 9.6 SLC26A4 MYO7A GJB2
50 deafness, autosomal recessive 83 9.6 SLC26A4 PJVK MYO7A

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



Diseases related to Deafness, Autosomal Dominant 6

Symptoms & Phenotypes for Deafness, Autosomal Dominant 6

Human phenotypes related to Deafness, Autosomal Dominant 6:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408
2 low-frequency sensorineural hearing impairment 31 HP:0008573

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
progressive, low frequency sensorineural hearing loss

Clinical features from OMIM:

600965

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.85 CISD2 COCH COL11A2 GJB2 GSDME KCNQ4
2 homeostasis/metabolism MP:0005376 9.61 CISD2 COL11A2 DIAPH1 GJB2 GSDME MYO7A
3 nervous system MP:0003631 9.32 CISD2 DIAPH1 GJB2 GSDME KCNQ4 MYH14

Drugs & Therapeutics for Deafness, Autosomal Dominant 6

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

Genetic Tests for Deafness, Autosomal Dominant 6

Genetic tests related to Deafness, Autosomal Dominant 6:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 6/14/38 29

Anatomical Context for Deafness, Autosomal Dominant 6

MalaCards organs/tissues related to Deafness, Autosomal Dominant 6:

40
Brain

Publications for Deafness, Autosomal Dominant 6

Articles related to Deafness, Autosomal Dominant 6:

(show all 43)
# Title Authors PMID Year
1
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 54 61 56 6
18688868 2008
2
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. 54 61 56 6
12181639 2002
3
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 54 61 56 6
11709537 2001
4
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. 61 56 6
17492394 2007
5
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. 54 56 6
11709538 2001
6
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. 56 6
8595423 1995
7
WFS1-Related Disorders 61 6
20301750 2009
8
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 61 6
12073007 2002
9
Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development. 61 56
11597144 2001
10
Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3. 61 56
11553051 2001
11
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. 61 56
10424813 1999
12
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
13
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 6
18544103 2008
14
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 6
16648378 2006
15
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
16
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 6
9817917 1998
17
Familial low frequency hearing loss. 56
5157378 1971
18
Dominantly inherited low-frequency hearing loss. 56
5663381 1968
19
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. 54 61
17517145 2007
20
Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. 54 61
16550584 2006
21
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. 54 61
16353398 2005
22
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. 54 61
12955714 2003
23
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). 54 61
12707188 2003
24
Otologic manifestations of Wolf-Hirschhorn syndrome. 54 61
9485112 1998
25
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. 61
30171196 2018
26
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. 61
29774890 2018
27
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. 61
29529044 2018
28
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. 61
28802351 2017
29
Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss. 61
21356526 2011
30
Familial Ménière's disease in five generations. 61
16868516 2006
31
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. 61
16043233 2006
32
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. 61
15912360 2005
33
DFNA54, a third locus for low-frequency hearing loss. 61
15490091 2004
34
[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]. 61
14968315 2004
35
[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]. 61
14626834 2003
36
Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment. 61
12650912 2003
37
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. 61
12649740 2003
38
Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study. 61
12438850 2002
39
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. 61
12408070 2002
40
Hereditary deafness and phenotyping in humans. 61
12324385 2002
41
Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis. 61
11845993 2001
42
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. 61
10890148 1999
43
No association between DFNA6 and Pro250Arg mutation in FGFR3. 61
10490695 1999

Variations for Deafness, Autosomal Dominant 6

ClinVar genetic disease variations for Deafness, Autosomal Dominant 6:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)SNV Pathogenic 4524 rs104893882 4:6303423-6303423 4:6301696-6301696
2 WFS1 NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)SNV Pathogenic/Likely pathogenic 4526 rs74315205 4:6304112-6304112 4:6302385-6302385
3 WFS1 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)SNV Pathogenic/Likely pathogenic 189251 rs71530923 4:6279306-6279306 4:6277579-6277579
4 WFS1 NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)SNV Pathogenic/Likely pathogenic 4520 rs28937893 4:6303668-6303668 4:6301941-6301941
5 WFS1 NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)SNV Likely pathogenic 4521 rs104893883 4:6304008-6304008 4:6302281-6302281
6 WFS1 NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)SNV Conflicting interpretations of pathogenicity 215387 rs144951440 4:6302757-6302757 4:6301030-6301030
7 WFS1 NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)SNV Uncertain significance 215389 rs113446173 4:6302893-6302893 4:6301166-6301166
8 WFS1 NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)SNV Uncertain significance 215412 rs544933961 4:6303060-6303060 4:6301333-6301333
9 WFS1 NM_006005.3(WFS1):c.1633G>A (p.Val545Met)SNV Uncertain significance 215391 rs201993978 4:6303155-6303155 4:6301428-6301428
10 WFS1 NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser)SNV Uncertain significance 225514 rs553336498 4:6303368-6303368 4:6301641-6301641
11 WFS1 NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)SNV Uncertain significance 229647 rs776685250 4:6292998-6292998 4:6291271-6291271
12 WFS1 NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)SNV Uncertain significance 4522 rs28937894 4:6303618-6303618 4:6301891-6301891
13 WFS1 NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp)SNV Uncertain significance 4523 rs28937895 4:6304014-6304014 4:6302287-6302287
14 WFS1 NM_006005.3(WFS1):c.683G>A (p.Arg228His)SNV Uncertain significance 198190 rs150771247 4:6293695-6293695 4:6291968-6291968
15 WFS1 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)SNV Uncertain significance 198834 rs757027394 4:6303551-6303551 4:6301824-6301824
16 WFS1 NM_006005.3(WFS1):c.728C>T (p.Ala243Val)SNV Uncertain significance 215381 rs147147660 4:6296783-6296783 4:6295056-6295056
17 WFS1 NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)SNV Uncertain significance 215382 rs142428158 4:6296872-6296872 4:6295145-6295145
18 WFS1 NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)SNV Uncertain significance 215385 rs201282601 4:6302689-6302689 4:6300962-6300962
19 WFS1 NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)SNV Uncertain significance 166574 rs727503747 4:6296771-6296771 4:6295044-6295044
20 WFS1 NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)SNV Uncertain significance 166587 rs138771366 4:6302819-6302819 4:6301092-6301092
21 WFS1 NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)SNV Uncertain significance 178597 rs201064551 4:6303479-6303479 4:6301752-6301752
22 WFS1 NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)SNV Uncertain significance 166589 rs727503750 4:6302918-6302918 4:6301191-6301191
23 WFS1 NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)SNV Uncertain significance 4529 rs121912618 4:6304098-6304098 4:6302371-6302371
24 WFS1 NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)SNV Uncertain significance 374398 rs147157374 4:6302601-6302601 4:6300874-6300874
25 WFS1 NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)SNV Uncertain significance 440419 rs71524360 4:6303246-6303246 4:6301519-6301519
26 WFS1 NM_006005.3(WFS1):c.1124G>A (p.Arg375His)SNV Uncertain significance 504709 rs142671083 4:6302646-6302646 4:6300919-6300919
27 WFS1 NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)SNV Benign/Likely benign 137911 rs115346085 4:6292945-6292945 4:6291218-6291218
28 HERC2 NM_004667.5(HERC2):c.7617+4A>CSNV not provided 585200 rs1567006110 15:28447255-28447255 15:28202109-28202109

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

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 WFS1 p.Lys634Thr VAR_032963 rs104893882
2 WFS1 p.Thr699Met VAR_032964 rs28937894
3 WFS1 p.Ala716Thr VAR_032965 rs28937893
4 WFS1 p.Val779Met VAR_032966 rs141328044
5 WFS1 p.Leu829Pro VAR_032967 rs104893883
6 WFS1 p.Gly831Asp VAR_032968 rs28937895
7 WFS1 p.Arg859Gln VAR_068347 rs121912618
8 WFS1 p.Asp171Asn VAR_074210 rs758281375
9 WFS1 p.Tyr669His VAR_074211
10 WFS1 p.Arg685Pro VAR_074212 rs142668478
11 WFS1 p.His696Tyr VAR_074213
12 WFS1 p.Arg703His VAR_074214 rs132385227

Expression for Deafness, Autosomal Dominant 6

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

Pathways for Deafness, Autosomal Dominant 6

GO Terms for Deafness, Autosomal Dominant 6

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 WFS1 POU4F3 MYO7A
2 regulation of cell shape GO:0008360 9.58 MYH14 DIAPH1 COCH
3 inner ear morphogenesis GO:0042472 9.43 POU4F3 MYO7A KCNQ4
4 sensory perception of sound GO:0007605 9.4 WFS1 SLC26A4 POU4F3 PJVK MYO7A MYH14
5 actin filament-based movement GO:0030048 9.37 MYO7A MYH14
6 inner ear development GO:0048839 9.33 POU4F3 MYO7A GJB2
7 inner ear auditory receptor cell differentiation GO:0042491 9.32 POU4F3 MYO7A
8 inner ear receptor cell differentiation GO:0060113 9.13 POU4F3 MYO7A GSDME

Molecular functions related to Deafness, Autosomal Dominant 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.16 MYO7A MYH14
2 actin-dependent ATPase activity GO:0030898 8.96 MYO7A MYH14
3 calmodulin binding GO:0005516 8.92 WFS1 MYO7A MYH14 KCNQ4

Sources for Deafness, Autosomal Dominant 6

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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