DFNA6
MCID: DFN351
MIFTS: 41

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 57 73
Dfna6 57 12 75 55
Dfna14 57 12 75
Dfna38 57 12 75
Autosomal Dominant Nonsyndromic Deafness 6 12 15
Deafness, Autosomal Dominant 6/14/38 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 75
Deafness, Autosomal Dominant 14; Dfna14 57
Deafness, Autosomal Dominant 38; Dfna38 57
Deafness, Autosomal Dominant 14 57
Deafness, Autosomal Dominant 38 57
Deafness, Autosomal Dominant, 6 75
Autosomal Dominant Deafness 14 12
Autosomal Dominant Deafness 38 12
Deafness Autosomal Dominant 14 75
Deafness Autosomal Dominant 38 75
Autosomal Dominant Deafness 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600965
Disease Ontology 12 DOID:0110584
ICD10 33 H90.3
MedGen 42 C1833021
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008
UMLS 73 C1833021

Summaries for Deafness, Autosomal Dominant 6

OMIM : 57 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 deafness, autosomal dominant 1 and deafness, autosomal dominant 16. An important gene associated with Deafness, Autosomal Dominant 6 is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Neural Crest Differentiation and Cytoskeleton remodeling_RalB regulation pathway. 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 : 75 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 Familial 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.3 DIAPH1 WFS1
2 deafness, autosomal dominant 16 10.3 MYH14 STRC
3 deafness, autosomal dominant 54 10.3 POU4F3 WFS1
4 deafness, autosomal dominant 21 10.3 GSDME MYH14
5 wolfram syndrome 2 10.2 CISD2 WFS1
6 deafness, autosomal dominant 12 10.2 COL11A2 GSDME
7 deafness, autosomal recessive 98 10.2 TMPRSS3 TMPRSS4
8 deafness, autosomal recessive 8 10.2 STRC TMPRSS3 TMPRSS4
9 auditory neuropathy spectrum disorder 10.1 MYO7A OTOF
10 deafness, autosomal dominant 9 10.1 COCH GSDME STRC
11 deafness, autosomal dominant 48 10.1 MYH14 MYO7A
12 deafness, autosomal recessive 24 10.1 TMPRSS3 TMPRSS4
13 deafness, autosomal dominant 17 10.1 GSDME MYH14 MYO7A
14 retinitis pigmentosa-deafness syndrome 10.1 CDH23 MYO7A
15 deafness, autosomal recessive 59 10.1 GJB2 OTOF
16 usher syndrome, type ig 10.1 CDH23 MYO7A
17 deafness, autosomal dominant 11 10.1 GSDME MYO7A POU4F3
18 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 OTOF
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 usher syndrome, type if 10.1 CDH23 MYO7A
21 deafness, autosomal recessive 9 10.1 GJB2 OTOF
22 wolfram syndrome 10.1
23 deafness, autosomal recessive 3 10.1 GJB2 MYO7A
24 deafness, autosomal recessive 25 10.1 TMPRSS3 TMPRSS4
25 deafness, autosomal recessive 37 10.1 MYH14 MYO7A
26 deafness, autosomal dominant 22 10.1 COCH MYH14 MYO7A
27 deafness, autosomal recessive 1a 10.1 GJB2 OTOF
28 deafness, autosomal recessive 67 10.0 COL11A2 DIAPH1 GJB2
29 usher syndrome, type id 10.0 CDH23 MYO7A
30 deafness, autosomal recessive 2 10.0 GJB2 MYO7A OTOF
31 dfnb1 10.0 GJB2 MYO7A OTOF
32 deafness, autosomal dominant 36 10.0 GJB2 SLC26A4
33 waardenburg syndrome, type 1 9.9 CISD2 MITF WFS1
34 hodgkin's lymphoma, nodular sclerosis 9.9 GJB2 SLC26A4 STRC
35 deafness, autosomal recessive 12 9.9 CDH23 GJB2 MYO7A
36 mutism 9.9 GJB2 MITF
37 usher syndrome 9.9 CDH23 GJB2 MYO7A
38 peripheral vertigo 9.9 COCH SLC26A4
39 vestibular disease 9.9 COCH GJB2 SLC26A4
40 cochlear disease 9.9 MITF SLC26A4
41 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.9 GJB2 MITF
42 deafness, autosomal dominant 2a 9.8 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
43 deafness, autosomal recessive 30 9.8 GJB2 MYH14 MYO7A SLC26A4
44 deafness, autosomal recessive 26 9.8 CDH23 GJB2 OTOF SLC26A4
45 deafness, autosomal recessive 23 9.7 CDH23 GJB2 MYO7A SLC26A4
46 pendred syndrome 9.7 GJB2 MITF SLC26A4
47 dowling-degos disease 1 9.7 FGFR3 MITF
48 autosomal recessive nonsyndromic deafness 9.7 CDH23 GJB2 OTOF SLC26A4 TMPRSS3
49 non-syndromic genetic deafness 9.7 COCH GJB2 GSDME OTOF STRC TMPRSS3
50 branchiootic syndrome 1 9.6 CDH23 GJB2 MYO7A OTOF SLC26A4

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
progressive, low frequency sensorineural hearing loss


Clinical features from OMIM:

600965

Human phenotypes related to Deafness, Autosomal Dominant 6:

32
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408
2 low-frequency sensorineural hearing impairment 32 HP:0008573

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.17 CDH23 CISD2 COCH COL11A2 FGFR3 GJB2
2 behavior/neurological MP:0005386 10.16 CDH23 CISD2 FGFR3 MITF MYO7A OTOF
3 cellular MP:0005384 10.13 CDH23 CISD2 DIAPH1 FGFR3 GJB2 MITF
4 growth/size/body region MP:0005378 10.07 CDH23 CISD2 COL11A2 DIAPH1 FGFR3 GJB2
5 homeostasis/metabolism MP:0005376 10 CDH23 CISD2 DIAPH1 FGFR3 GJB2 GSDME
6 nervous system MP:0003631 10 CDH23 CISD2 DIAPH1 FGFR3 GJB2 GSDME
7 craniofacial MP:0005382 9.95 CDH23 CISD2 COL11A2 DIAPH1 FGFR3 GJB2
8 no phenotypic analysis MP:0003012 9.56 DIAPH1 FGFR3 GJB2 MITF MYH14 MYO7A
9 vision/eye MP:0005391 9.17 CDH23 CISD2 FGFR3 GJB2 MITF MYO7A

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

Anatomical Context for Deafness, Autosomal Dominant 6

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

41
Brain

Publications for Deafness, Autosomal Dominant 6

Articles related to Deafness, Autosomal Dominant 6:

# Title Authors Year
1
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. ( 12408070 )
2002
2
Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study. ( 12438850 )
2002
3
Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development. ( 11597144 )
2001
4
No association between DFNA6 and Pro250Arg mutation in FGFR3. ( 10490695 )
1999

Variations for Deafness, Autosomal Dominant 6

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

75 (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

ClinVar genetic disease variations for Deafness, Autosomal Dominant 6:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
2 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh38 Chromosome 4, 6301941: 6301941
3 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Likely pathogenic rs104893883 GRCh37 Chromosome 4, 6304008: 6304008
4 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Likely pathogenic rs104893883 GRCh38 Chromosome 4, 6302281: 6302281
5 WFS1 NM_006005.3(WFS1): c.2096C> T (p.Thr699Met) single nucleotide variant Uncertain significance rs28937894 GRCh37 Chromosome 4, 6303618: 6303618
6 WFS1 NM_006005.3(WFS1): c.2096C> T (p.Thr699Met) single nucleotide variant Uncertain significance rs28937894 GRCh38 Chromosome 4, 6301891: 6301891
7 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Uncertain significance rs28937895 GRCh37 Chromosome 4, 6304014: 6304014
8 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Uncertain significance rs28937895 GRCh38 Chromosome 4, 6302287: 6302287
9 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh37 Chromosome 4, 6303423: 6303423
10 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh38 Chromosome 4, 6301696: 6301696
11 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
12 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh38 Chromosome 4, 6302385: 6302385
13 WFS1 NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln) single nucleotide variant Uncertain significance rs121912618 GRCh37 Chromosome 4, 6304098: 6304098
14 WFS1 NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln) single nucleotide variant Uncertain significance rs121912618 GRCh38 Chromosome 4, 6302371: 6302371
15 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
16 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
17 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh37 Chromosome 4, 6302819: 6302819
18 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh38 Chromosome 4, 6301092: 6301092
19 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
20 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
21 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
22 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
23 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
24 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
25 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
26 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
27 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh38 Chromosome 4, 6301030: 6301030
28 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh37 Chromosome 4, 6302757: 6302757
29 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh37 Chromosome 4, 6303368: 6303368
30 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh38 Chromosome 4, 6301641: 6301641
31 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh38 Chromosome 4, 6300855: 6300857
32 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584
33 WFS1 NM_006005.3(WFS1): c.937C> T (p.His313Tyr) single nucleotide variant Likely pathogenic rs886044563 GRCh37 Chromosome 4, 6302459: 6302459
34 WFS1 NM_006005.3(WFS1): c.937C> T (p.His313Tyr) single nucleotide variant Likely pathogenic rs886044563 GRCh38 Chromosome 4, 6300732: 6300732
35 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh37 Chromosome 15, 28447255: 28447255
36 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh38 Chromosome 15, 28202109: 28202109

Expression for Deafness, Autosomal Dominant 6

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

Pathways for Deafness, Autosomal Dominant 6

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

# Super pathways Score Top Affiliating Genes
1 10.81 COL11A2 FGFR3 MITF
2 10.28 FGFR3 MYH14 MYO7A

GO Terms for Deafness, Autosomal Dominant 6

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

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.8 CDH23 MYO7A STRC

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.67 COCH DIAPH1 MYH14
2 visual perception GO:0007601 9.62 CDH23 MYO7A POU4F3 WFS1
3 inner ear receptor cell stereocilium organization GO:0060122 9.48 CDH23 MYO7A
4 sensory perception of sound GO:0007605 9.47 CDH23 COCH COL11A2 DIAPH1 GJB2 GSDME
5 actin filament-based movement GO:0030048 9.46 MYH14 MYO7A
6 auditory receptor cell stereocilium organization GO:0060088 9.43 MYO7A STRC
7 sensory perception of light stimulus GO:0050953 9.4 CDH23 MYO7A
8 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A POU4F3
9 inner ear development GO:0048839 9.33 GJB2 MYO7A POU4F3
10 equilibrioception GO:0050957 9.26 CDH23 MYO7A
11 inner ear receptor cell differentiation GO:0060113 9.13 GSDME MYO7A POU4F3

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 8.96 MYH14 MYO7A
2 actin-dependent ATPase activity GO:0030898 8.62 MYH14 MYO7A

Sources for Deafness, Autosomal Dominant 6

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