DFNA9
MCID: DFN136
MIFTS: 42

Deafness, Autosomal Dominant 9 (DFNA9)

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

Aliases & Classifications for Deafness, Autosomal Dominant 9

MalaCards integrated aliases for Deafness, Autosomal Dominant 9:

Name: Deafness, Autosomal Dominant 9 56 29 13 6 71
Dfna9 56 12 73
Autosomal Dominant Nonsyndromic Deafness 9 12 15
Deafness, Autosomal Dominant, Type 9 39
Deafness, Autosomal Dominant, 9 73
Autosomal Dominant Deafness 9 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in young adulthood


HPO:

31
deafness, autosomal dominant 9:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive young adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110593
OMIM 56 601369
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832425
UMLS 71 C1832425

Summaries for Deafness, Autosomal Dominant 9

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 9: A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.

MalaCards based summary : Deafness, Autosomal Dominant 9, also known as dfna9, is related to branchiootic syndrome 1 and meniere disease, and has symptoms including vertigo and tinnitus. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin). Affiliated tissues include bone, and related phenotypes are vertigo and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has material basis in mutation in the COCH gene on chromosome 14q12.

OMIM : 56 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006). (601369)

Related Diseases for Deafness, Autosomal Dominant 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.7 MYO7A GJB2
2 meniere disease 30.0 FAM136A COCH
3 vestibular disease 28.8 PCDH15 MYO7A KCNQ4 GJB2 FAM136A COCH
4 autosomal dominant non-syndromic sensorineural deafness type dfna 28.6 WFS1 POU4F3 MYO7A KCNQ4 GSDME GJB2
5 sensorineural hearing loss 28.1 WFS1 POU4F3 PCDH15 MYO7A KCNQ4 GSDME
6 nonsyndromic deafness 27.5 WFS1 POU4F3 PCDH15 MYO7A KCNQ4 GSDME
7 autosomal dominant nonsyndromic deafness 26.6 WFS1 VWF POU4F3 PCDH15 MYO7A KCNQ4
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
9 age-related hearing loss 10.4
10 deafness, autosomal recessive 110 10.4 LOC100506071 COCH
11 deafness, autosomal dominant 53 10.3 POU4F3 COCH
12 deafness, autosomal dominant 21 10.2 GSDME COL11A2
13 deafness, autosomal recessive 9 10.2 MYO7A GJB2
14 drug-induced hearing loss 10.2 POU4F3 MYO7A
15 deafness, autosomal dominant 20 10.2 POU4F3 GSDME
16 cogan syndrome 10.2 GJB2 COCH
17 deafness, autosomal dominant 56 10.2 GJB2 COCH
18 deafness, autosomal dominant 64 10.2 KCNQ4 GJB2
19 deafness, autosomal recessive 3 10.2 MYO7A GJB2
20 deafness, autosomal dominant 10 10.2 GSDME COL11A2
21 autosomal recessive nonsyndromic deafness 3 10.2 MYO7A GJB2
22 hereditary hearing loss and deafness 10.1 COL11A2 COCH
23 deafness, autosomal dominant 3a 10.1 GSDME GJB2 COCH
24 non-syndromic genetic deafness 10.1 KCNQ4 GJB2 COCH
25 deafness, autosomal recessive 91 10.1 GSDME GJB2 COCH
26 motion sickness 10.1
27 vestibulocochlear dysfunction, progressive 10.1
28 yemenite deaf-blind hypopigmentation syndrome 10.1
29 night blindness 10.1
30 audiogenic seizures 10.1
31 deafness, autosomal dominant 2a 10.1 KCNQ4 GJB2 COCH
32 deafness, autosomal dominant 2b 10.1 KCNQ4 GSDME GJB2
33 deafness, autosomal recessive 1a 10.1 GSDME GJB2 COCH
34 labyrinthitis 10.1 MYO7A GJB2 COCH
35 x-linked nonsyndromic deafness 10.0 POU4F3 GSDME GJB2
36 deafness, autosomal dominant 4b 10.0 KCNQ4 GJB2 COL11A2
37 hodgkin's lymphoma, nodular sclerosis 10.0 MYO7A GJB2
38 deafness, autosomal dominant 41 10.0 POU4F3 KCNQ4 GSDME COCH
39 deafness, autosomal dominant 18 9.9 KCNQ4 GSDME COL11A2 COCH
40 deafness, autosomal dominant 13 9.9 KCNQ4 GSDME COL11A2 COCH
41 deafness, autosomal dominant 12 9.9 KCNQ4 GSDME COL11A2 COCH
42 peripheral vertigo 9.9 GJB2 FAM136A COCH
43 retinitis pigmentosa-deafness syndrome 9.9 PCDH15 MYO7A
44 usher syndrome, type ih 9.9 PCDH15 MYO7A
45 deafness, autosomal dominant 44 9.9 WFS1 GSDME COL11A2
46 usher syndrome, type ij 9.8 PCDH15 MYO7A
47 deafness, autosomal dominant 28 9.8 KCNQ4 GSDME FAM136A COCH
48 deafness, autosomal dominant 54 9.8 WFS1 POU4F3 GJB2
49 inner ear disease 9.8 MYO7A KCNQ4 GJB2 COCH
50 waardenburg syndrome, type 1 9.8 WFS1 GSDME GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 9:



Diseases related to Deafness, Autosomal Dominant 9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 9

Human phenotypes related to Deafness, Autosomal Dominant 9:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 tinnitus 31 HP:0000360
3 abnormality of the vestibulocochlear nerve 31 HP:0009591
4 cochlear degeneration 31 HP:0005102
5 postlingual sensorineural hearing impairment 31 HP:0008596

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
vertigo
tinnitus
hearing loss, postlingual
vestibular involvement (variable)
downward sloping audiogram
more

Clinical features from OMIM:

601369

UMLS symptoms related to Deafness, Autosomal Dominant 9:


vertigo, tinnitus

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 COCH COL11A2 GJB2 GSDME KCNQ4 MYO7A
2 nervous system MP:0003631 9.23 GJB2 GSDME KCNQ4 MYO7A NENF PCDH15

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene. Recruiting NCT03716908
2 Inventory of Radiological and Vestibular Function in Cochlear Implant Candidates Not yet recruiting NCT04066270
3 Systematic Review of Phenotype Characteristics of DFNA9 Caused by the Pro51 Ser (P51S) Mutation in COCH Withdrawn NCT03707756

Search NIH Clinical Center for Deafness, Autosomal Dominant 9

Genetic Tests for Deafness, Autosomal Dominant 9

Genetic tests related to Deafness, Autosomal Dominant 9:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 9 29 COCH

Anatomical Context for Deafness, Autosomal Dominant 9

MalaCards organs/tissues related to Deafness, Autosomal Dominant 9:

40
Bone

Publications for Deafness, Autosomal Dominant 9

Articles related to Deafness, Autosomal Dominant 9:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 61 56 6
18312449 2008
2
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. 61 56 6
16261627 2005
3
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation. 61 56 6
11332404 2001
4
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. 61 56 6
10400989 1999
5
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. 61 56 6
9806553 1998
6
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. 61 56 6
8817345 1996
7
Mutation in the COCH gene is associated with superior semicircular canal dehiscence. 56 6
19161137 2009
8
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. 56 6
14512963 2003
9
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. 61 56
16481359 2006
10
Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. 61 56
16078052 2005
11
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. 61 6
12928864 2003
12
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 61 6
9931344 1999
13
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
14
Absence of COCH gene mutations in patients with superior semicircular canal dehiscence. 56
22139968 2012
15
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
16
Autosomal dominant sensorineural hearing loss. Further temporal bone findings. 56
8417734 1993
17
Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds. 56
1910721 1991
18
Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology. 61
31728177 2019
19
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin. 61
31493294 2019
20
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 61
31126177 2019
21
Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients. 61
31998212 2019
22
Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers. 61
31390618 2019
23
Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion. 61
29765451 2018
24
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment. 61
29449721 2018
25
Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9). 61
29357473 2018
26
[Research advancement in related genes of Ménière's disease]. 61
29871253 2017
27
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. 61
28099493 2017
28
Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review. 61
29375286 2017
29
Distinct vestibular phenotypes in DFNA9 families with COCH variants. 61
26758463 2016
30
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
31
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. 61
28116169 2016
32
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9). 61
27023102 2016
33
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. 61
26631968 2016
34
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. 61
26256111 2015
35
Detailed hearing and vestibular profiles in the patients with COCH mutations. 61
25780252 2015
36
Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice. 61
25049087 2014
37
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. 61
25230692 2014
38
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family. 61
25227905 2014
39
Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link? 61
24662630 2014
40
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family. 61
23993205 2013
41
Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3. 61
23538131 2013
42
Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity. 61
23684986 2013
43
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. 61
22931125 2013
44
Cochlin expression in vestibular endorgans obtained from patients with Meniere's disease. 61
22992960 2012
45
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 61
22610276 2012
46
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation. 61
21774451 2011
47
Extralabyrinthine manifestations of DFNA9. 61
21052762 2011
48
Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder. 61
21073934 2011
49
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. 61
21046548 2010
50
Role of protein misfolding in DFNA9 hearing loss. 61
20228067 2010

Variations for Deafness, Autosomal Dominant 9

ClinVar genetic disease variations for Deafness, Autosomal Dominant 9:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COCH NM_004086.3(COCH):c.197T>G (p.Val66Gly)SNV Pathogenic 6608 rs121908927 14:31346892-31346892 14:30877686-30877686
2 COCH NM_004086.3(COCH):c.263G>A (p.Gly88Glu)SNV Pathogenic 6609 rs121908928 14:31348040-31348040 14:30878834-30878834
3 COCH NM_004086.3(COCH):c.349T>C (p.Trp117Arg)SNV Pathogenic 6610 rs121908929 14:31348126-31348126 14:30878920-30878920
4 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser)SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
5 COCH NM_004086.3(COCH):c.326T>A (p.Ile109Asn)SNV Pathogenic 6612 rs121908930 14:31348103-31348103 14:30878897-30878897
6 COCH NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)SNV Pathogenic 6614 rs121908932 14:31358969-31358969 14:30889763-30889763
7 COCH NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr)SNV Pathogenic 6615 rs121908932 14:31358969-31358969 14:30889763-30889763
8 COCH NM_004086.3(COCH):c.1535T>C (p.Met512Thr)SNV Pathogenic 6616 rs121908934 14:31358879-31358879 14:30889673-30889673
9 COCH NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)SNV Pathogenic 236036 rs878853226 14:31355200-31355200 14:30885994-30885994
10 COCH NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)SNV Likely pathogenic 523013 rs756541797 14:31355191-31355191 14:30885985-30885985
11 COCH NM_004086.3(COCH):c.355G>A (p.Ala119Thr)SNV Uncertain significance 6613 rs121908931 14:31348132-31348132 14:30878926-30878926
12 COCH NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)SNV Benign 226525 rs1045644 14:31355096-31355096 14:30885890-30885890

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 9:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 COCH p.Pro51Ser VAR_008532 rs28938175
2 COCH p.Val66Gly VAR_008533 rs121908927
3 COCH p.Gly88Glu VAR_008534 rs121908928
4 COCH p.Ile109Asn VAR_008535 rs121908930
5 COCH p.Trp117Arg VAR_008536 rs121908929
6 COCH p.Ala119Thr VAR_017175 rs121908931
7 COCH p.Cys162Tyr VAR_070034
8 COCH p.Gly87Val VAR_072249
9 COCH p.Gly87Trp VAR_072250
10 COCH p.Ile109Thr VAR_072251 rs121908930
11 COCH p.Met512Thr VAR_072252 rs121908934
12 COCH p.Phe527Cys VAR_072253
13 COCH p.Cys542Tyr VAR_072254 rs121908932
14 COCH p.Gly38Asp VAR_079876

Expression for Deafness, Autosomal Dominant 9

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 9.

Pathways for Deafness, Autosomal Dominant 9

GO Terms for Deafness, Autosomal Dominant 9

Cellular components related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 PCDH15 MYO7A

Biological processes related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 WFS1 POU4F3 PCDH15 MYO7A
2 inner ear development GO:0048839 9.56 POU4F3 PCDH15 MYO7A GJB2
3 inner ear morphogenesis GO:0042472 9.54 POU4F3 MYO7A KCNQ4
4 inner ear receptor cell stereocilium organization GO:0060122 9.48 PCDH15 MYO7A
5 auditory receptor cell stereocilium organization GO:0060088 9.46 PCDH15 MYO7A
6 sensory perception of light stimulus GO:0050953 9.43 PCDH15 MYO7A
7 equilibrioception GO:0050957 9.4 PCDH15 MYO7A
8 inner ear receptor cell differentiation GO:0060113 9.33 POU4F3 MYO7A GSDME
9 sensory perception of sound GO:0007605 9.28 WFS1 POU4F3 PCDH15 MYO7A KCNQ4 GSDME
10 inner ear auditory receptor cell differentiation GO:0042491 9.13 POU4F3 PCDH15 MYO7A

Molecular functions related to Deafness, Autosomal Dominant 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.13 WFS1 MYO7A KCNQ4
2 protein N-terminus binding GO:0047485 8.8 VWF PCDH15 MYO7A

Sources for Deafness, Autosomal Dominant 9

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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