DFNA17
MCID: DFN200
MIFTS: 43

Deafness, Autosomal Dominant 17 (DFNA17)

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

Aliases & Classifications for Deafness, Autosomal Dominant 17

MalaCards integrated aliases for Deafness, Autosomal Dominant 17:

Name: Deafness, Autosomal Dominant 17 57 13 70
Autosomal Dominant Nonsyndromic Deafness 17 12 29 6 15
Dfna17 57 12 72
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 70
Deafness, Autosomal Dominant, Type 17 39
Deafness, Autosomal Dominant, 17 72
Autosomal Dominant Deafness 17 12
Cochleosaccular Degeneration 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset of hearing loss in late childhood or adolescence


HPO:

31
deafness, autosomal dominant 17:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110548
OMIM® 57 603622
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 232326009 263681008 48758008
UMLS 70 C1861512 C1863659

Summaries for Deafness, Autosomal Dominant 17

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the MYH9 gene on chromosome 22q12.

MalaCards based summary : Deafness, Autosomal Dominant 17, also known as autosomal dominant nonsyndromic deafness 17, is related to autosomal dominant non-syndromic sensorineural deafness type dfna and myh-9 related disease. An important gene associated with Deafness, Autosomal Dominant 17 is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include kidney, and related phenotypes are high-frequency hearing impairment and hearing/vestibular/ear

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.

More information from OMIM: 603622 PS124900

Related Diseases for Deafness, Autosomal Dominant 17

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 Dominant 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic sensorineural deafness type dfna 29.6 MYO7A MYO6 MYH9 MYH14 KCNQ4
2 myh-9 related disease 28.9 UBR3 MYO7A MYH9 MYH7B MYH14 MYH10
3 sensorineural hearing loss 28.0 TPRN RIPOR2 MYO7A MYO6 MYO3A MYO1A
4 deafness, autosomal dominant nonsyndromic sensorineural 17 11.3
5 cochleosaccular degeneration of the inner ear and progressive cataracts 11.2
6 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.0
7 deafness, autosomal recessive 3 10.3 MYO7A MYO15A
8 deafness, autosomal recessive 7 10.3 MYO7A MYO15A
9 branchiootic syndrome 1 10.2
10 deafness, autosomal recessive 83 10.2 MYO7A MYO15A
11 deafness, autosomal recessive 18a 10.2 MYO7A MYO15A
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
13 usher syndrome, type iid 10.2 MYO7A MYO15A
14 nonsyndromic deafness 10.2 MYH9 KCNQ4
15 autosomal recessive nonsyndromic deafness 36 10.2 TPRN MYO3A
16 deafness, autosomal recessive 61 10.1 TPRN MYO3A
17 deafness, autosomal recessive 23 10.1 MYO7A MYO15A
18 deafness, autosomal recessive 1b 10.1 TPRN MYO15A
19 deafness, autosomal dominant 64 10.1 MYH14 KCNQ4
20 deafness, autosomal recessive 24 10.1 TPRN MYO15A
21 deafness, autosomal recessive 28 10.1 TPRN MYO15A
22 deafness, autosomal recessive 63 10.1 MYO7A MYO15A MYH9
23 usher syndrome, type if 10.1 MYO7A MYO15A
24 deafness, autosomal dominant 11 10.1 MYO7A MYO3A MYO15A
25 y-linked monogenic disease 10.1 MYO1A KCNQ4
26 deafness, autosomal recessive 2 10.1 MYO7A MYO3A MYO15A
27 neuronopathy, distal hereditary motor, type iic 10.1 MYH7B MYH14
28 deafness, autosomal recessive 9 10.1 MYO7A MYO15A
29 deafness, autosomal dominant 25 10.1 MYO7A KCNQ4
30 deafness, autosomal recessive 15 10.1 MYO6 MYO15A
31 deafness, autosomal recessive 71 10.0 MYO7A MYO6
32 deafness, autosomal dominant 36 10.0 MYO15A KCNQ4
33 deafness, autosomal dominant 7 10.0 MYO6 MYO1A
34 viral labyrinthitis 10.0
35 labyrinthitis 10.0
36 cataract 10.0
37 deafness, autosomal dominant 18 10.0 MYO6 KCNQ4
38 deafness, autosomal dominant 16 10.0 MYO6 KCNQ4
39 deafness, autosomal dominant 20 10.0 TPRN KCNQ4
40 usher syndrome, type iic 10.0 MYO7A MYO15A
41 deafness, autosomal dominant 6 10.0 MYO7A MYO15A KCNQ4
42 vestibular disease 10.0 MYO7A MYO15A KCNQ4
43 peripheral vertigo 10.0 MYO7A KCNQ4
44 inner ear disease 10.0 MYO7A MYO15A KCNQ4
45 waardenburg's syndrome 9.9 MYO7A MYO15A KCNQ4
46 meniere disease 9.9 MYO7A KCNQ4
47 cochleosaccular degeneration with progressive cataracts 9.9
48 glomerulonephritis 9.9
49 autosomal recessive nonsyndromic deafness 9.9 TPRN MYO7A MYO3A MYO15A
50 deafness, autosomal dominant 10 9.9 MYO6 MYH14 KCNQ4

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 17:



Diseases related to Deafness, Autosomal Dominant 17

Symptoms & Phenotypes for Deafness, Autosomal Dominant 17

Human phenotypes related to Deafness, Autosomal Dominant 17:

31
# Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment 31 HP:0005101

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, high-frequency (onset in childhood-adolescence)
deafness, moderate-severe (onset in third decade)
cochleosaccular dysplasia
organ of corti degeneration

Clinical features from OMIM®:

603622 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 KCNQ4 MYH9 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.32 KCNQ4 MYH10 MYH14 MYH9 MYO15A MYO3A

Drugs & Therapeutics for Deafness, Autosomal Dominant 17

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 17

Genetic Tests for Deafness, Autosomal Dominant 17

Genetic tests related to Deafness, Autosomal Dominant 17:

# Genetic test Affiliating Genes
1 Autosomal Dominant Nonsyndromic Deafness 17 29 MYH9

Anatomical Context for Deafness, Autosomal Dominant 17

MalaCards organs/tissues related to Deafness, Autosomal Dominant 17:

40
Kidney

Publications for Deafness, Autosomal Dominant 17

Articles related to Deafness, Autosomal Dominant 17:

(show all 18)
# Title Authors PMID Year
1
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 6 57 61
25505834 2014
2
Cochlear implants for DFNA17 deafness. 61 6 57
17146397 2006
3
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 6 57 61
11023810 2000
4
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 57 6
9390828 1997
5
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 61 6
24890873 2015
6
A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. 61 57
9915977 1999
7
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 6
26226608 2016
8
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. 6
24186861 2014
9
Familial cases with MYH9 disorders caused by MYH9 S96L mutation. 6
23409987 2013
10
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 6
16969870 2006
11
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 6
11752022 2002
12
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 61
19645626 2009
13
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
14
A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II. 61
16901894 2006
15
Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources. 61
16630581 2006
16
Auditory phenotype of DFNA17. 61
12408071 2002
17
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 61
11590545 2001
18
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. 61
10890148 1999

Variations for Deafness, Autosomal Dominant 17

ClinVar genetic disease variations for Deafness, Autosomal Dominant 17:

6 (show top 50) (show all 204)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH9 NM_002473.5(MYH9):c.2114G>A (p.Arg705His) SNV Pathogenic 14079 rs80338828 GRCh37: 22:36702021-36702021
GRCh38: 22:36305975-36305975
2 MYH9 NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) SNV Pathogenic 14083 rs121913657 GRCh37: 22:36744995-36744995
GRCh38: 22:36348950-36348950
3 MYH9 NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) SNV Uncertain significance 902430 GRCh37: 22:36678719-36678719
GRCh38: 22:36282673-36282673
4 MYH9 NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) SNV Uncertain significance 829957 rs748946434 GRCh37: 22:36680233-36680233
GRCh38: 22:36284187-36284187
5 MYH9 NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) SNV Uncertain significance 666865 rs762745890 GRCh37: 22:36745263-36745263
GRCh38: 22:36349218-36349218
6 MYH9 NM_002473.5(MYH9):c.4025G>A (p.Arg1342Gln) SNV Uncertain significance 341507 rs758159686 GRCh37: 22:36689445-36689445
GRCh38: 22:36293399-36293399
7 MYH9 NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) SNV Uncertain significance 902998 GRCh37: 22:36745167-36745167
GRCh38: 22:36349122-36349122
8 MYH9 NM_002473.6(MYH9):c.*248C>T SNV Uncertain significance 902363 GRCh37: 22:36678466-36678466
GRCh38: 22:36282420-36282420
9 MYH9 NM_002473.6(MYH9):c.*273C>T SNV Uncertain significance 902362 GRCh37: 22:36678441-36678441
GRCh38: 22:36282395-36282395
10 MYH9 NM_002473.6(MYH9):c.333+14G>A SNV Uncertain significance 902112 GRCh37: 22:36744935-36744935
GRCh38: 22:36348890-36348890
11 MYH9 NM_002473.6(MYH9):c.445C>A (p.His149Asn) SNV Uncertain significance 902111 GRCh37: 22:36737460-36737460
GRCh38: 22:36341415-36341415
12 MYH9 NM_002473.6(MYH9):c.448A>G (p.Ile150Val) SNV Uncertain significance 902110 GRCh37: 22:36737457-36737457
GRCh38: 22:36341412-36341412
13 MYH9 NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) SNV Uncertain significance 164439 rs34292387 GRCh37: 22:36688151-36688151
GRCh38: 22:36292105-36292105
14 MYH9 NM_002473.5(MYH9):c.2041G>A (p.Gly681Ser) SNV Uncertain significance 378216 rs145241551 GRCh37: 22:36702094-36702094
GRCh38: 22:36306048-36306048
15 MYH9 NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) SNV Uncertain significance 341494 rs368440234 GRCh37: 22:36681194-36681194
GRCh38: 22:36285148-36285148
16 MYH9 NM_002473.5(MYH9):c.5271G>T (p.Leu1757=) SNV Uncertain significance 341495 rs886057478 GRCh37: 22:36681707-36681707
GRCh38: 22:36285661-36285661
17 MYH9 NM_002473.5(MYH9):c.585G>A (p.Ala195=) SNV Uncertain significance 341532 rs374395918 GRCh37: 22:36722640-36722640
GRCh38: 22:36326595-36326595
18 MYH9 NM_002473.5(MYH9):c.4654G>A (p.Glu1552Lys) SNV Uncertain significance 341499 rs886057479 GRCh37: 22:36684889-36684889
GRCh38: 22:36288843-36288843
19 MYH9 NM_002473.5(MYH9):c.4345-11C>G SNV Uncertain significance 341504 rs376040199 GRCh37: 22:36685354-36685354
GRCh38: 22:36289308-36289308
20 MYH9 NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) SNV Uncertain significance 290063 rs202132383 GRCh37: 22:36684412-36684412
GRCh38: 22:36288366-36288366
21 MYH9 NM_002473.5(MYH9):c.420C>T (p.Gly140=) SNV Uncertain significance 341534 rs372621048 GRCh37: 22:36737485-36737485
GRCh38: 22:36341440-36341440
22 MYH9 NM_002473.5(MYH9):c.543G>A (p.Thr181=) SNV Uncertain significance 258756 rs146514663 GRCh37: 22:36722682-36722682
GRCh38: 22:36326637-36326637
23 MYH9 NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) SNV Uncertain significance 227608 rs876657520 GRCh37: 22:36691047-36691047
GRCh38: 22:36295001-36295001
24 MYH9 NM_002473.5(MYH9):c.1578C>G (p.Ala526=) SNV Uncertain significance 341525 rs201827299 GRCh37: 22:36708244-36708244
GRCh38: 22:36312199-36312199
25 MYH9 NM_002473.5(MYH9):c.3638C>G (p.Ala1213Gly) SNV Uncertain significance 341512 rs886057481 GRCh37: 22:36690337-36690337
GRCh38: 22:36294291-36294291
26 MYH9 NM_002473.5(MYH9):c.4126A>G (p.Ser1376Gly) SNV Uncertain significance 341506 rs771692651 GRCh37: 22:36688250-36688250
GRCh38: 22:36292204-36292204
27 MYH9 NM_002473.5(MYH9):c.5593-14G>A SNV Uncertain significance 341493 rs201676960 GRCh37: 22:36680325-36680325
GRCh38: 22:36284279-36284279
28 MYH9 NM_002473.5(MYH9):c.1539C>A (p.Asp513Glu) SNV Uncertain significance 341526 rs886057484 GRCh37: 22:36710205-36710205
GRCh38: 22:36314160-36314160
29 MYH9 NM_002473.5(MYH9):c.*474C>T SNV Uncertain significance 341477 rs55979529 GRCh37: 22:36678240-36678240
GRCh38: 22:36282194-36282194
30 MYH9 NM_002473.5(MYH9):c.3677G>A (p.Arg1226Gln) SNV Uncertain significance 341511 rs200697030 GRCh37: 22:36690298-36690298
GRCh38: 22:36294252-36294252
31 MYH9 NM_002473.5(MYH9):c.4348C>T (p.Leu1450=) SNV Uncertain significance 341503 rs764948348 GRCh37: 22:36685340-36685340
GRCh38: 22:36289294-36289294
32 MYH9 NM_002473.5(MYH9):c.4830C>T (p.Ala1610=) SNV Uncertain significance 341498 rs751904301 GRCh37: 22:36684400-36684400
GRCh38: 22:36288354-36288354
33 MYH9 NM_002473.5(MYH9):c.4391G>A (p.Arg1464His) SNV Uncertain significance 341501 rs199968414 GRCh37: 22:36685297-36685297
GRCh38: 22:36289251-36289251
34 MYH9 NM_002473.5(MYH9):c.*802T>G SNV Uncertain significance 341468 rs528245823 GRCh37: 22:36677912-36677912
GRCh38: 22:36281866-36281866
35 MYH9 NM_002473.5(MYH9):c.*1193A>G SNV Uncertain significance 341461 rs886057470 GRCh37: 22:36677521-36677521
GRCh38: 22:36281475-36281475
36 MYH9 NM_002473.5(MYH9):c.3136C>G (p.Leu1046Val) SNV Uncertain significance 341517 rs886057482 GRCh37: 22:36693025-36693025
GRCh38: 22:36296979-36296979
37 MYH9 NM_002473.5(MYH9):c.*1099A>T SNV Uncertain significance 341463 rs886057471 GRCh37: 22:36677615-36677615
GRCh38: 22:36281569-36281569
38 MYH9 NM_002473.5(MYH9):c.1188G>A (p.Val396=) SNV Uncertain significance 341528 rs147972823 GRCh37: 22:36714291-36714291
GRCh38: 22:36318246-36318246
39 MYH9 NM_002473.5(MYH9):c.-163C>G SNV Uncertain significance 341540 rs886057486 GRCh37: 22:36783995-36783995
GRCh38: 22:36387950-36387950
40 MYH9 NM_002473.5(MYH9):c.1899C>T (p.Pro633=) SNV Uncertain significance 341524 rs749696998 GRCh37: 22:36702598-36702598
GRCh38: 22:36306552-36306552
41 MYH9 NM_002473.5(MYH9):c.*1204A>T SNV Uncertain significance 341460 rs56360445 GRCh37: 22:36677510-36677510
GRCh38: 22:36281464-36281464
42 MYH9 NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) SNV Uncertain significance 164438 rs727503286 GRCh37: 22:36688079-36688079
GRCh38: 22:36292033-36292033
43 MYH9 NM_002473.5(MYH9):c.4972C>T (p.Arg1658Cys) SNV Uncertain significance 341496 rs143972348 GRCh37: 22:36682853-36682853
GRCh38: 22:36286807-36286807
44 MYH9 NM_002473.5(MYH9):c.3605C>T (p.Ala1202Val) SNV Uncertain significance 341514 rs772915368 GRCh37: 22:36691003-36691003
GRCh38: 22:36294957-36294957
45 MYH9 NM_002473.5(MYH9):c.*107A>G SNV Uncertain significance 341487 rs886057476 GRCh37: 22:36678607-36678607
GRCh38: 22:36282561-36282561
46 MYH9 NM_002473.5(MYH9):c.*1026C>G SNV Uncertain significance 341464 rs779365782 GRCh37: 22:36677688-36677688
GRCh38: 22:36281642-36281642
47 MYH9 NM_002473.5(MYH9):c.5717C>T (p.Thr1906Met) SNV Uncertain significance 341492 rs149663189 GRCh37: 22:36680187-36680187
GRCh38: 22:36284141-36284141
48 MYH9 NM_002473.5(MYH9):c.2230-11C>A SNV Uncertain significance 341522 rs374467213 GRCh37: 22:36700212-36700212
GRCh38: 22:36304166-36304166
49 MYH9 NM_002473.5(MYH9):c.*645C>G SNV Uncertain significance 341474 rs527539496 GRCh37: 22:36678069-36678069
GRCh38: 22:36282023-36282023
50 MYH9 NM_002473.5(MYH9):c.*193C>T SNV Uncertain significance 341484 rs181364853 GRCh37: 22:36678521-36678521
GRCh38: 22:36282475-36282475

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 17:

72
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg705His VAR_010793 rs80338828

Expression for Deafness, Autosomal Dominant 17

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 17.

Pathways for Deafness, Autosomal Dominant 17

Pathways related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
2
Show member pathways
13.2 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
3
Show member pathways
13.09 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
4
Show member pathways
12.86 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
5
Show member pathways
12.7 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
6
Show member pathways
12.64 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
7
Show member pathways
12.5 MYO6 MYO1A MYH9 MYH14 MYH10
8 12.27 MYO6 MYH9 MYH14 MYH10
9
Show member pathways
12.11 MYH9 MYH14 MYH10
10
Show member pathways
12.04 MYH9 MYH14 MYH10
11
Show member pathways
11.99 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
12 11.91 MYH9 MYH14 MYH10
13
Show member pathways
11.73 MYH9 MYH14 MYH10
14 10.82 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9

GO Terms for Deafness, Autosomal Dominant 17

Cellular components related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.26 UBR3 RIPOR2 MYO7A MYO6 MYO3A MYO1A
2 cell projection GO:0042995 10.02 TPRN RIPOR2 MYO6 MYO3A MYO15A MYH10
3 actin cytoskeleton GO:0015629 9.77 MYO7A MYO6 MYO1A MYO15A MYH9
4 vesicle GO:0031982 9.76 MYO7A MYO6 MYO1A MYO15A
5 cell cortex GO:0005938 9.73 MYO7A MYO6 MYH9 MYH10
6 filopodium GO:0030175 9.71 RIPOR2 MYO6 MYO3A
7 microvillus GO:0005902 9.7 MYO7A MYO6 MYO1A
8 stress fiber GO:0001725 9.69 MYH9 MYH14 MYH10
9 brush border GO:0005903 9.67 MYO1A MYH9 MYH14
10 filamentous actin GO:0031941 9.58 MYO6 MYO3A MYO1A
11 actomyosin GO:0042641 9.5 MYH9 MYH14 MYH10
12 stereocilium base GO:0120044 9.48 TPRN MYO7A
13 myosin II complex GO:0016460 9.43 MYH9 MYH14 MYH10
14 stereocilium GO:0032420 9.35 TPRN RIPOR2 MYO7A MYO3A MYO15A
15 myosin II filament GO:0097513 9.33 MYH9 MYH14 MYH10
16 myosin complex GO:0016459 9.28 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9

Biological processes related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.71 MYO7A MYO6 MYO1A MYO15A
2 regulation of cell shape GO:0008360 9.63 MYH9 MYH14 MYH10
3 inner ear morphogenesis GO:0042472 9.56 MYO7A MYO6 MYO15A KCNQ4
4 actomyosin structure organization GO:0031032 9.54 MYH9 MYH14 MYH10
5 auditory receptor cell stereocilium organization GO:0060088 9.5 TPRN RIPOR2 MYO7A
6 vesicle transport along actin filament GO:0030050 9.46 MYO7A MYO6 MYO1A MYO15A
7 inner ear auditory receptor cell differentiation GO:0042491 9.43 MYO7A MYO6
8 actin filament-based movement GO:0030048 9.35 MYO7A MYO6 MYH9 MYH14 MYH10
9 sensory perception of sound GO:0007605 9.28 TPRN RIPOR2 MYO7A MYO6 MYO3A MYO1A

Molecular functions related to Deafness, Autosomal Dominant 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.11 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
2 ATP binding GO:0005524 10.09 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
3 actin filament binding GO:0051015 9.97 MYO7A MYO6 MYO1A MYO15A MYH9 MYH7B
4 actin binding GO:0003779 9.97 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
5 calmodulin binding GO:0005516 9.91 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
6 ADP binding GO:0043531 9.8 MYO7A MYO6 MYO3A MYH9 MYH10
7 actin-dependent ATPase activity GO:0030898 9.76 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
8 microfilament motor activity GO:0000146 9.56 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
9 motor activity GO:0003774 9.28 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9

Sources for Deafness, Autosomal Dominant 17

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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