DFNA17
MCID: DFN200
MIFTS: 43

Deafness, Autosomal Dominant 17 (DFNA17)

Categories: Blood diseases, 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 56 13 71
Autosomal Dominant Nonsyndromic Deafness 17 12 29 6 15
Dfna17 56 12 73
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 71
Deafness, Autosomal Dominant, Type 17 39
Deafness, Autosomal Dominant, 17 73
Autosomal Dominant Deafness 17 12
Cochleosaccular Degeneration 73

Characteristics:

OMIM:

56
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 56 603622
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 232326009 263681008 48758008
UMLS 71 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 myh-9 related disease and autosomal dominant non-syndromic sensorineural deafness type dfna. 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. Related phenotypes are high-frequency hearing impairment and hearing/vestibular/ear

UniProtKB/Swiss-Prot : 73 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 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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 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 66)
# Related Disease Score Top Affiliating Genes
1 myh-9 related disease 29.6 UBR3 RIPOR2 MYO7A MYH9 MYH10
2 autosomal dominant non-syndromic sensorineural deafness type dfna 29.0 MYO7A MYO6 MYO1A MYH9 MYH14 KCNQ4
3 sensorineural hearing loss 27.9 TPRN RIPOR2 MYO7A MYO6 MYO15A MYH9
4 cochleosaccular degeneration of the inner ear and progressive cataracts 12.5
5 deafness, autosomal dominant nonsyndromic sensorineural 17 11.4
6 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.3
7 branchiootic syndrome 1 10.5
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
9 deafness, autosomal recessive 3 10.4 MYO7A MYO15A
10 deafness, autosomal recessive 7 10.3 MYO7A MYO15A
11 deafness, autosomal recessive 18a 10.3 MYO7A MYO15A
12 deafness, autosomal recessive 83 10.3 MYO7A MYO15A
13 deafness, autosomal recessive 63 10.2 MYO7A MYO15A
14 autosomal recessive nonsyndromic deafness 36 10.2 TPRN MYO3A
15 usher syndrome, type iid 10.2 MYO7A MYO15A
16 deafness, autosomal recessive 61 10.2 TPRN MYO3A
17 viral labyrinthitis 10.2
18 labyrinthitis 10.2
19 cataract 10.2
20 deafness, autosomal recessive 23 10.2 MYO7A MYO15A
21 deafness, autosomal recessive 28 10.1 TPRN MYO15A
22 cochleosaccular degeneration with progressive cataracts 10.1
23 thrombocytopenia 10.1
24 glomerulonephritis 10.1
25 deafness, autosomal recessive 9 10.1 MYO7A MYO15A
26 deafness, autosomal recessive 1b 10.1 TPRN MYO15A
27 usher syndrome, type if 10.1 MYO7A MYO15A
28 deafness, autosomal recessive 2 10.1 MYO7A MYO3A MYO15A
29 deafness, autosomal recessive 24 10.1 TPRN MYO15A
30 deafness, autosomal recessive 15 10.1 MYO6 MYO15A
31 usher syndrome, type iic 10.1 MYO7A MYO15A
32 usher syndrome, type id 10.0 MYO7A MYO15A
33 deafness, autosomal dominant 64 9.9 MYH14 KCNQ4
34 deafness, autosomal recessive 9.9 TPRN MYO6 MYO3A
35 deafness, autosomal dominant 6 9.9 MYO7A KCNQ4
36 y-linked monogenic disease 9.9 MYO1A KCNQ4
37 deafness, autosomal dominant 25 9.8 MYO7A KCNQ4
38 autosomal recessive nonsyndromic deafness 9.8 TPRN MYO7A MYO3A MYO15A
39 deafness, autosomal recessive 12 9.8 MYO7A MYO15A
40 nonsyndromic deafness 9.8 MYO15A MYH9 KCNQ4
41 deafness, autosomal recessive 79 9.8 TPRN RIPOR2 MYO3A MYO15A
42 non-syndromic genetic deafness 9.7 MYO3A MYO15A KCNQ4
43 deafness, autosomal dominant 11 9.7 MYO7A MYO6 MYO3A MYO15A
44 peripheral vertigo 9.7 MYO7A KCNQ4
45 inner ear disease 9.7 MYO7A MYH9 KCNQ4
46 deafness, autosomal dominant 20 9.7 TPRN KCNQ4
47 vestibular disease 9.7 MYO7A MYO15A KCNQ4
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 MYO7A MYO15A KCNQ4
49 deafness, autosomal dominant 10 9.7 MYO6 KCNQ4
50 deafness, autosomal dominant 1 9.6 TPRN MYO7A MYO3A MYO15A MYH14

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:

56
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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 17:

45
# 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

Publications for Deafness, Autosomal Dominant 17

Articles related to Deafness, Autosomal Dominant 17:

(show all 15)
# Title Authors PMID Year
1
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 61 6 56
25505834 2014
2
Cochlear implants for DFNA17 deafness. 61 6 56
17146397 2006
3
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 61 56 6
11023810 2000
4
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 56 6
9390828 1997
5
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 6 61
24890873 2015
6
A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. 56 61
9915977 1999
7
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
8
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
9
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 61
19645626 2009
10
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
11
A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II. 61
16901894 2006
12
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
13
Auditory phenotype of DFNA17. 61
12408071 2002
14
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
15
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 201) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH9 NM_002473.5(MYH9):c.2114G>A (p.Arg705His)SNV Pathogenic 14079 rs80338828 22:36702021-36702021 22:36305975-36305975
2 MYH9 NM_002473.5(MYH9):c.287C>T (p.Ser96Leu)SNV Pathogenic 14083 rs121913657 22:36744995-36744995 22:36348950-36348950
3 MYH9 NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)SNV Conflicting interpretations of pathogenicity 44557 rs144807538 22:36692969-36692969 22:36296923-36296923
4 MYH9 NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)SNV Conflicting interpretations of pathogenicity 44567 rs142094977 22:36682873-36682873 22:36286827-36286827
5 MYH9 NM_002473.6(MYH9):c.2977-10C>TSNV Conflicting interpretations of pathogenicity 903605 22:36695098-36695098 22:36299052-36299052
6 MYH9 NM_002473.6(MYH9):c.1729-5G>ASNV Conflicting interpretations of pathogenicity 901425 22:36705446-36705446 22:36309401-36309401
7 MYH9 NM_002473.5(MYH9):c.2041G>A (p.Gly681Ser)SNV Conflicting interpretations of pathogenicity 378216 rs145241551 22:36702094-36702094 22:36306048-36306048
8 MYH9 NM_002473.6(MYH9):c.2691C>T (p.Ala897=)SNV Conflicting interpretations of pathogenicity 504625 rs148883810 22:36697044-36697044 22:36300998-36300998
9 MYH9 NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)SNV Conflicting interpretations of pathogenicity 504627 rs201415443 22:36745250-36745250 22:36349205-36349205
10 MYH9 NM_002473.5(MYH9):c.5074G>A (p.Ala1692Thr)SNV Conflicting interpretations of pathogenicity 627083 22:36681987-36681987 22:36285941-36285941
11 MYH9 NM_002473.6(MYH9):c.1728+7A>GSNV Conflicting interpretations of pathogenicity 741241 22:36708087-36708087 22:36312042-36312042
12 MYH9 NM_002473.6(MYH9):c.*195T>CSNV Conflicting interpretations of pathogenicity 903228 22:36678519-36678519 22:36282473-36282473
13 MYH9 NM_002473.6(MYH9):c.*13G>ASNV Conflicting interpretations of pathogenicity 900752 22:36678701-36678701 22:36282655-36282655
14 MYH9 NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)SNV Conflicting interpretations of pathogenicity 902430 22:36678719-36678719 22:36282673-36282673
15 MYH9 NM_002473.6(MYH9):c.5787C>T (p.Val1929=)SNV Conflicting interpretations of pathogenicity 903289 22:36678810-36678810 22:36282764-36282764
16 MYH9 NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)SNV Conflicting interpretations of pathogenicity 902509 22:36681272-36681272 22:36285226-36285226
17 MYH9 NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)SNV Conflicting interpretations of pathogenicity 903427 22:36684413-36684413 22:36288367-36288367
18 MYH9 NM_002473.6(MYH9):c.3852C>T (p.Asn1284=)SNV Conflicting interpretations of pathogenicity 901046 22:36689895-36689895 22:36293849-36293849
19 MYH9 NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys)SNV Conflicting interpretations of pathogenicity 901601 22:36690236-36690236 22:36294190-36294190
20 MYH9 NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)SNV Conflicting interpretations of pathogenicity 899933 22:36691583-36691583 22:36295537-36295537
21 MYH9 NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)SNV Conflicting interpretations of pathogenicity 900909 22:36684328-36684328 22:36288282-36288282
22 MYH9 NM_002473.6(MYH9):c.2607G>A (p.Thr869=)SNV Conflicting interpretations of pathogenicity 900008 22:36697604-36697604 22:36301558-36301558
23 MYH9 NM_002473.6(MYH9):c.2442G>A (p.Arg814=)SNV Conflicting interpretations of pathogenicity 901722 22:36698671-36698671 22:36302625-36302625
24 MYH9 NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)SNV Conflicting interpretations of pathogenicity 164421 rs138158369 22:36682799-36682799 22:36286753-36286753
25 MYH9 NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)SNV Conflicting interpretations of pathogenicity 178431 rs143947828 22:36684352-36684352 22:36288306-36288306
26 MYH9 NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys)SNV Conflicting interpretations of pathogenicity 164438 rs727503286 22:36688079-36688079 22:36292033-36292033
27 MYH9 NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)SNV Conflicting interpretations of pathogenicity 164442 rs200901330 22:36691696-36691696 22:36295650-36295650
28 MYH9 NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)SNV Conflicting interpretations of pathogenicity 164435 rs139134727 22:36685292-36685292 22:36289246-36289246
29 MYH9 NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)SNV Conflicting interpretations of pathogenicity 164439 rs34292387 22:36688151-36688151 22:36292105-36292105
30 MYH9 NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)SNV Conflicting interpretations of pathogenicity 164446 rs151036570 22:36696277-36696277 22:36300231-36300231
31 MYH9 NM_002473.6(MYH9):c.*8C>TSNV Conflicting interpretations of pathogenicity 228922 rs201455315 22:36678706-36678706 22:36282660-36282660
32 MYH9 NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)SNV Conflicting interpretations of pathogenicity 227608 rs876657520 22:36691047-36691047 22:36295001-36295001
33 MYH9 NM_002473.6(MYH9):c.1890C>T (p.Thr630=)SNV Conflicting interpretations of pathogenicity 227603 rs762239398 22:36702607-36702607 22:36306561-36306561
34 MYH9 NM_002473.6(MYH9):c.1722C>T (p.Ala574=)SNV Conflicting interpretations of pathogenicity 227602 rs373381680 22:36708100-36708100 22:36312055-36312055
35 MYH9 NM_002473.5(MYH9):c.5766-5C>TSNV Conflicting interpretations of pathogenicity 258760 rs746967490 22:36678836-36678836 22:36282790-36282790
36 MYH9 NM_002473.5(MYH9):c.2205C>T (p.Asp735=)SNV Conflicting interpretations of pathogenicity 258735 rs370860479 22:36701103-36701103 22:36305057-36305057
37 MYH9 NM_002473.5(MYH9):c.1344C>T (p.Ile448=)SNV Conflicting interpretations of pathogenicity 258728 rs150125254 22:36712598-36712598 22:36316553-36316553
38 MYH9 NM_002473.5(MYH9):c.543G>A (p.Thr181=)SNV Conflicting interpretations of pathogenicity 258756 rs146514663 22:36722682-36722682 22:36326637-36326637
39 MYH9 NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)SNV Conflicting interpretations of pathogenicity 290063 rs202132383 22:36684412-36684412 22:36288366-36288366
40 MYH9 NM_002473.5(MYH9):c.*474C>TSNV Conflicting interpretations of pathogenicity 341477 rs55979529 22:36678240-36678240 22:36282194-36282194
41 MYH9 NM_002473.5(MYH9):c.5717C>T (p.Thr1906Met)SNV Conflicting interpretations of pathogenicity 341492 rs149663189 22:36680187-36680187 22:36284141-36284141
42 MYH9 NM_002473.5(MYH9):c.4348C>T (p.Leu1450=)SNV Conflicting interpretations of pathogenicity 341503 rs764948348 22:36685340-36685340 22:36289294-36289294
43 MYH9 NM_002473.5(MYH9):c.4305C>T (p.Ser1435=)SNV Conflicting interpretations of pathogenicity 341505 rs768359816 22:36688071-36688071 22:36292025-36292025
44 MYH9 NM_002473.6(MYH9):c.3915G>A (p.Ala1305=)SNV Conflicting interpretations of pathogenicity 341508 rs183685723 22:36689832-36689832 22:36293786-36293786
45 MYH9 NM_002473.5(MYH9):c.1098C>T (p.Pro366=)SNV Conflicting interpretations of pathogenicity 341530 rs537679678 22:36715595-36715595 22:36319550-36319550
46 MYH9 NM_002473.5(MYH9):c.132C>T (p.Ala44=)SNV Conflicting interpretations of pathogenicity 341537 rs138526426 22:36745150-36745150 22:36349105-36349105
47 MYH9 NM_002473.5(MYH9):c.5593-14G>ASNV Conflicting interpretations of pathogenicity 341493 rs201676960 22:36680325-36680325 22:36284279-36284279
48 MYH9 NM_002473.5(MYH9):c.4972C>T (p.Arg1658Cys)SNV Conflicting interpretations of pathogenicity 341496 rs143972348 22:36682853-36682853 22:36286807-36286807
49 MYH9 NM_002473.5(MYH9):c.4830C>T (p.Ala1610=)SNV Conflicting interpretations of pathogenicity 341498 rs751904301 22:36684400-36684400 22:36288354-36288354
50 MYH9 NM_002473.5(MYH9):c.4025G>A (p.Arg1342Gln)SNV Conflicting interpretations of pathogenicity 341507 rs758159686 22:36689445-36689445 22:36293399-36293399

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

73
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
2
Show member pathways
13.18 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
3
Show member pathways
13.04 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
4
Show member pathways
12.81 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
5
Show member pathways
12.65 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
6
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
7 12.28 MYO6 MYH9 MYH14 MYH10
8
Show member pathways
12.12 MYH9 MYH14 MYH10
9 12.09 MYO6 MYO1A MYH9 MYH14 MYH10
10 12.07 MYO6 MYH9 MYH14 MYH10
11
Show member pathways
12.05 MYH9 MYH14 MYH10
12
Show member pathways
11.94 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
13 11.91 MYH9 MYH14 MYH10
14
Show member pathways
11.75 MYH9 MYH14 MYH10
15 10.77 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 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 UBR3 RIPOR2 RIPOR1 MYO7A MYO6 MYO3A
2 cell GO:0005623 10.03 RIPOR1 MYO7A MYO6 MYO1A MYO15A MYH9
3 cell projection GO:0042995 10.01 TPRN RIPOR2 MYO6 MYO3A MYO15A MYH10
4 vesicle GO:0031982 9.8 MYO7A MYO6 MYO1A MYO15A
5 actin cytoskeleton GO:0015629 9.8 MYO7A MYO6 MYO1A MYO15A MYH9
6 cell cortex GO:0005938 9.78 MYO7A MYO6 MYH9 MYH10
7 filopodium GO:0030175 9.72 RIPOR2 MYO6 MYO3A
8 microvillus GO:0005902 9.7 MYO7A MYO6 MYO1A
9 stress fiber GO:0001725 9.69 MYH9 MYH14 MYH10
10 brush border GO:0005903 9.62 MYO1A MYH9 MYH14 MYH10
11 filamentous actin GO:0031941 9.61 MYO6 MYO3A MYO1A
12 basal plasma membrane GO:0009925 9.58 MYO1A KCNQ4
13 actomyosin GO:0042641 9.54 MYH9 MYH14 MYH10
14 stereocilium base GO:0120044 9.46 TPRN MYO7A
15 myosin II complex GO:0016460 9.43 MYH9 MYH14 MYH10
16 stereocilium GO:0032420 9.35 TPRN RIPOR2 MYO7A MYO3A MYO15A
17 myosin II filament GO:0097513 9.33 MYH9 MYH14 MYH10
18 myosin complex GO:0016459 9.23 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.71 MYO7A MYO6 MYO1A MYO15A
2 in utero embryonic development GO:0001701 9.67 UBR3 MYH9 MYH10
3 regulation of cell shape GO:0008360 9.65 MYH9 MYH14 MYH10
4 inner ear morphogenesis GO:0042472 9.56 MYO7A MYO6 MYO15A KCNQ4
5 actomyosin structure organization GO:0031032 9.54 MYH9 MYH14 MYH10
6 auditory receptor cell stereocilium organization GO:0060088 9.5 TPRN RIPOR2 MYO7A
7 plasma membrane repair GO:0001778 9.46 MYH9 MYH10
8 vesicle transport along actin filament GO:0030050 9.46 MYO7A MYO6 MYO1A MYO15A
9 inner ear auditory receptor cell differentiation GO:0042491 9.43 MYO7A MYO6
10 actin filament-based movement GO:0030048 9.35 MYO7A MYO6 MYH9 MYH14 MYH10
11 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.06 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
2 ATP binding GO:0005524 10.03 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
3 actin binding GO:0003779 9.92 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
4 actin filament binding GO:0051015 9.91 MYO7A MYO6 MYO1A MYO15A MYH9 MYH14
5 motor activity GO:0003774 9.86 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
6 calmodulin binding GO:0005516 9.81 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
7 ADP binding GO:0043531 9.8 MYO7A MYO6 MYO3A MYH9 MYH10
8 ATPase activity GO:0016887 9.67 MYH9 MYH14 MYH10
9 actin-dependent ATPase activity GO:0030898 9.56 MYO7A MYO6 MYO3A MYO1A MYO15A MYH9
10 14-3-3 protein binding GO:0071889 9.48 RIPOR2 RIPOR1
11 microfilament motor activity GO:0000146 9.23 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
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
Content
Loading form....