DFNA11
MCID: DFN251
MIFTS: 42

Deafness, Autosomal Dominant 11 (DFNA11)

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

Aliases & Classifications for Deafness, Autosomal Dominant 11

MalaCards integrated aliases for Deafness, Autosomal Dominant 11:

Name: Deafness, Autosomal Dominant 11 56 29 13 6 71
Dfna11 56 12 73 54
Autosomal Dominant Nonsyndromic Deafness 11 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 73
Deafness, Autosomal Dominant, Type 11 39
Deafness, Autosomal Dominant, 11 73
Autosomal Dominant Deafness 11 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, ranging from childhood to adult
gradual progression of hearing loss
allelic disorder to autosomal recessive hearing loss (dfnb2, ) and usher syndrome type ib


HPO:

31
deafness, autosomal dominant 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110543
OMIM 56 601317
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832475
UMLS 71 C1832475

Summaries for Deafness, Autosomal Dominant 11

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 11: 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.

MalaCards based summary : Deafness, Autosomal Dominant 11, also known as dfna11, is related to retinitis pigmentosa-deafness syndrome and dfnb1. An important gene associated with Deafness, Autosomal Dominant 11 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include brain, and related phenotypes are vertigo and bilateral sensorineural hearing impairment

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has material basis in mutation in the MYO7A gene on chromosome 11q13.

OMIM : 56 Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011). (601317)

Related Diseases for Deafness, Autosomal Dominant 11

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.4 WHRN PCDH15 MYO7A CDH23
2 dfnb1 30.3 PCDH15 MYO7A GJB2
3 branchiootic syndrome 1 30.0 WHRN USH1G MYO7A GJB2 CDH23
4 autosomal dominant non-syndromic sensorineural deafness type dfna 29.0 POU4F3 MYO7A GSDME GJB2 COCH
5 deafness, autosomal recessive 2 28.5 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
6 retinitis pigmentosa 27.6 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
7 usher syndrome 27.5 WHRN USH1G USH1C PDZD7 PCDH15 MYO7B
8 usher syndrome, type i 26.8 WHRN USH1G USH1C PDZD7 PCDH15 MYO7B
9 sensorineural hearing loss 26.8 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15
10 nonsyndromic deafness 25.4 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
12 usher syndrome, type ik 10.4 PCDH15 CDH23
13 deafness, autosomal recessive 48 10.3 WHRN MYO7A
14 acute hemorrhagic leukoencephalitis 10.3 USH1G CDH23
15 deafness, autosomal recessive 5 10.3 USH1C COCH
16 neuroretinitis 10.2
17 retinitis 10.2
18 deafness, autosomal dominant 59 10.2 USH1C GJB2
19 deafness, autosomal recessive 63 10.2 MYO7A MYO15A
20 deafness, autosomal recessive 8 10.2 MYO15A GJB2
21 deafness, autosomal dominant 18 10.2 GSDME COCH
22 usher syndrome, type iiib 10.2 WHRN USH1G MYO7A
23 deafness, autosomal recessive 83 10.2 MYO7A MYO15A CDH23
24 deafness, autosomal dominant 13 10.2 GSDME COCH
25 deafness, autosomal recessive 22 10.2 MYO15A CDH23
26 deafness, autosomal dominant 28 10.2 GSDME COCH
27 deafness, autosomal dominant 2b 10.1 GSDME GJB2
28 baraitser-winter syndrome 10.1 WHRN CDH23
29 deafness, autosomal recessive 31 10.1 WHRN USH1G PDZD7
30 deafness, autosomal dominant 40 10.1 PCDH15 CDH23
31 deafness, autosomal recessive 84a 10.1 DIAPH1 CDH23
32 cogan syndrome 10.1 GJB2 COCH
33 wolfram syndrome 1 10.1
34 wolfram syndrome 10.1
35 retinal degeneration 10.1
36 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1
37 age-related hearing loss 10.1
38 deafness, autosomal recessive 21 10.1 MYO15A GJB2
39 deafness, autosomal dominant 2a 10.1 GJB2 COCH
40 deafness, autosomal recessive 3 10.1 MYO7A MYO15A GJB2
41 deafness, autosomal recessive 7 10.0 MYO15A GJB2 CDH23
42 usher syndrome, type ig 10.0 USH1G USH1C PCDH15 CDH23
43 deafness, autosomal recessive 49 10.0 MYO15A GJB2
44 deafness, autosomal recessive 9 10.0 MYO7A MYO15A GJB2
45 deafness, autosomal dominant 12 10.0 GSDME COCH
46 drug-induced hearing loss 10.0 POU4F3 MYO7A CDH23
47 deafness, autosomal dominant 53 10.0 POU4F3 COCH
48 labyrinthitis 10.0 MYO7A GJB2 COCH
49 deafness, autosomal recessive 29 10.0 MYO15A GJB2
50 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 DIAPH1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 11:



Diseases related to Deafness, Autosomal Dominant 11

Symptoms & Phenotypes for Deafness, Autosomal Dominant 11

Human phenotypes related to Deafness, Autosomal Dominant 11:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, moderate, postlingual
audiogram is gently sloping or flat
audiogram may be ascending

Neurologic Central Nervous System:
vestibular dysfunction, mild
vertigo, mild

Clinical features from OMIM:

601317

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.07 CDH23 COCH GJB2 GSDME MYO15A MYO3A
2 behavior/neurological MP:0005386 9.97 CDH23 MYO15A MYO3A MYO7A PCDH15 POU4F3
3 homeostasis/metabolism MP:0005376 9.85 CDH23 DIAPH1 GJB2 GSDME MYO3A MYO7A
4 nervous system MP:0003631 9.77 CDH23 DIAPH1 GJB2 GSDME MYO15A MYO3A
5 vision/eye MP:0005391 9.32 CDH23 GJB2 MYO15A MYO7A PCDH15 PDZD7

Drugs & Therapeutics for Deafness, Autosomal Dominant 11

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 11

Genetic Tests for Deafness, Autosomal Dominant 11

Genetic tests related to Deafness, Autosomal Dominant 11:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 11 29

Anatomical Context for Deafness, Autosomal Dominant 11

MalaCards organs/tissues related to Deafness, Autosomal Dominant 11:

40
Brain

Publications for Deafness, Autosomal Dominant 11

Articles related to Deafness, Autosomal Dominant 11:

(show all 33)
# Title Authors PMID Year
1
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 61 56 6
21150918 2011
2
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 61 56 6
15221449 2004
3
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 56 6
9354784 1997
4
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. 54 61 56
11889386 2002
5
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 54 61 56
8776602 1996
6
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
7
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
8
Nonsyndromic hearing impairment: unparalleled heterogeneity. 56
9106521 1997
9
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). 54 61
16449806 2006
10
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). 54 61
15300860 2004
11
Searching for evidence of DFNB2. 54 61
11992483 2002
12
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. 54 61
10958658 2000
13
Genomics and hearing impairment. 54 61
9927480 1999
14
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11. 61
29400105 2018
15
The first sporadic case of DFNA11 identified by next-generation sequencing. 61
28802369 2017
16
Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family. 61
26968074 2016
17
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
18
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
19
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 61
23383098 2013
20
A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier. 61
21378158 2011
21
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 61
20132242 2010
22
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. 61
20016096 2009
23
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. 61
19372648 2009
24
In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. 61
18667942 2008
25
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
26
[Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11]. 61
17702415 2007
27
Cochleovestibular and ocular features in a Dutch DFNA11 family. 61
16639269 2006
28
Hereditary deafness and phenotyping in humans. 61
12324385 2002
29
Clinical presentation of DFNA11 (MYO7A). 61
12408067 2002
30
Sensorineural hearing impairment non-syndromic, dominant DFNA11. 61
10868221 2000
31
Unconventional myosins and the genetics of hearing loss. 61
10704189 1999
32
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11. 61
9325061 1997
33
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. 61
9150164 1997

Variations for Deafness, Autosomal Dominant 11

ClinVar genetic disease variations for Deafness, Autosomal Dominant 11:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO7A MYO7A, 9-BP DEL, EX22deletion Pathogenic 11857
2 MYO7A NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)SNV Pathogenic 11863 rs121965084 11:76873195-76873195 11:77162149-77162149
3 MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)SNV Pathogenic 43164 rs111033180 11:76883896-76883896 11:77172850-77172850
4 MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)SNV Pathogenic 551138 rs766641715 11:76903288-76903288 11:77192243-77192243
5 MYO7A NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)SNV Pathogenic/Likely pathogenic 551533 rs755934966 11:76919825-76919825 11:77208780-77208780
6 MYO7A NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)SNV Pathogenic/Likely pathogenic 561263 rs750647872 11:76903177-76903177 11:77192132-77192132
7 MYO7A NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)SNV Pathogenic/Likely pathogenic 43288 rs368657015 11:76916599-76916599 11:77205554-77205554
8 MYO7A NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)SNV Pathogenic/Likely pathogenic 43327 rs111033283 11:76867955-76867955 11:77156909-77156909
9 MYO7A NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)SNV Pathogenic/Likely pathogenic 242392 rs878853236 11:76885835-76885835 11:77174789-77174789
10 MYO7A NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)SNV Pathogenic/Likely pathogenic 372560 rs1057517857 11:76901158-76901158 11:77190113-77190113
11 MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)SNV Pathogenic/Likely pathogenic 43169 rs111033201 11:76885871-76885871 11:77174825-77174825
12 MYO7A NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)SNV Pathogenic/Likely pathogenic 178993 rs797044512 11:76868004-76868004 11:77156958-77156958
13 MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)SNV Pathogenic/Likely pathogenic 43208 rs111033214 11:76900393-76900393 11:77189348-77189348
14 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)SNV Pathogenic/Likely pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108
15 MYO7A NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)SNV Likely pathogenic 29924 rs201539845 11:76867967-76867967 11:77156921-77156921
16 MYO7A NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)SNV Likely pathogenic 522937 rs782808261 11:76867106-76867106 11:77156060-77156060
17 MYO7A NC_000011.10:g.77147798deldeletion Likely pathogenic 800972 11:76858843-76858843 11:77147797-77147797
18 MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)SNV Conflicting interpretations of pathogenicity 43186 rs111033437 11:76890971-76890971 11:77179925-77179925
19 MYO7A NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)SNV Uncertain significance 191024 rs371029653 11:76890902-76890902 11:77179856-77179856
20 MYO7A NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)SNV Uncertain significance 229007 rs781537330 11:76914182-76914182 11:77203137-77203137
21 MYO7A NM_000260.4(MYO7A):c.3750+5G>ASNV Uncertain significance 43220 rs111033391 11:76901189-76901189 11:77190144-77190144
22 MYO7A NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)SNV Uncertain significance 43244 rs202245413 11:76867116-76867116 11:77156070-77156070
23 MYO7A NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser)SNV Uncertain significance 29925 rs387906699 11:76885877-76885877 11:77174831-77174831
24 MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)SNV Uncertain significance 43134 rs45629132 11:76870496-76870496 11:77159450-77159450
25 MYO7A NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)SNV Uncertain significance 178486 rs373080197 11:76905441-76905441 11:77194396-77194396
26 MYO7A NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)SNV Uncertain significance 178494 rs372768607 11:76916521-76916521 11:77205476-77205476
27 MYO7A NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)SNV Uncertain significance 178496 rs41298759 11:76922875-76922875 11:77211830-77211830
28 MYO7A NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)SNV Uncertain significance 177732 rs368341987 11:76890889-76890889 11:77179843-77179843
29 MYO7A NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala)SNV Uncertain significance 547904 rs782636303 11:76868368-76868368 11:77157322-77157322
30 MYO7A NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)SNV Uncertain significance 553405 rs554073390 11:76895759-76895759 11:77184714-77184714
31 MYO7A NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)SNV Uncertain significance 517466 rs769771981 11:76903114-76903114 11:77192069-77192069
32 MYO7A NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val)SNV Uncertain significance 638048 11:76905559-76905559 11:77194514-77194514

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 11:

73
# Symbol AA change Variation ID SNP ID
1 MYO7A p.Asn458Ile VAR_027306 rs121965084
2 MYO7A p.Gly722Arg VAR_027307
3 MYO7A p.Arg853Cys VAR_027308

Expression for Deafness, Autosomal Dominant 11

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 11.

Pathways for Deafness, Autosomal Dominant 11

Pathways related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 MYO7A MYO3A MYO15A DIAPH1
2 10.34 MYO7A MYO3A MYO15A

GO Terms for Deafness, Autosomal Dominant 11

Cellular components related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 WHRN USH1G USH1C POU4F3 PCDH15 MYO7B
2 cytoskeleton GO:0005856 10.02 USH1G USH1C MYO7B MYO7A MYO3A MYO15A
3 cell projection GO:0042995 9.98 WHRN USH1C PDZD7 MYO7B MYO3A MYO15A
4 myosin complex GO:0016459 9.71 MYO7B MYO7A MYO3A MYO15A
5 photoreceptor outer segment GO:0001750 9.69 USH1C PCDH15 MYO7A
6 microvillus GO:0005902 9.67 USH1C MYO7B MYO7A
7 stereocilium tip GO:0032426 9.56 WHRN USH1C PDZD7 MYO3A
8 photoreceptor inner segment GO:0001917 9.55 WHRN USH1G USH1C PDZD7 MYO7A
9 stereocilium bundle GO:0032421 9.54 WHRN MYO15A
10 stereocilia ankle link complex GO:0002142 9.54 WHRN USH1C PDZD7
11 stereocilia ankle link GO:0002141 9.5 WHRN USH1C PDZD7
12 USH2 complex GO:1990696 9.46 WHRN PDZD7
13 photoreceptor connecting cilium GO:0032391 9.35 WHRN USH1G USH1C PDZD7 MYO7A
14 stereocilium GO:0032420 9.23 WHRN USH1C PDZD7 PCDH15 MYO7A MYO3A

Biological processes related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.91 POU4F3 PCDH15 MYO7A MYO3A CDH23
2 inner ear morphogenesis GO:0042472 9.83 USH1G USH1C POU4F3 MYO7A MYO15A
3 inner ear development GO:0048839 9.78 POU4F3 PCDH15 MYO7A GJB2
4 photoreceptor cell maintenance GO:0045494 9.76 USH1G USH1C PCDH15 CDH23
5 locomotory behavior GO:0007626 9.71 PCDH15 MYO15A CDH23
6 auditory receptor cell stereocilium organization GO:0060088 9.71 WHRN PDZD7 PCDH15 MYO7A
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 WHRN PDZD7 PCDH15
8 inner ear receptor cell differentiation GO:0060113 9.67 USH1G POU4F3 MYO7A GSDME
9 equilibrioception GO:0050957 9.65 USH1G USH1C PCDH15 MYO7A CDH23
10 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1G USH1C PCDH15 MYO7A CDH23
11 inner ear auditory receptor cell differentiation GO:0042491 9.62 USH1C POU4F3 PCDH15 MYO7A
12 brush border assembly GO:1904970 9.52 USH1C MYO7B
13 sensory perception of sound GO:0007605 9.47 WHRN USH1G USH1C POU4F3 PDZD7 PCDH15
14 sensory perception of light stimulus GO:0050953 9.43 WHRN USH1G USH1C PCDH15 MYO7A CDH23

Molecular functions related to Deafness, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.77 WHRN USH1G PDZD7 MYO7A CDH23
2 calmodulin binding GO:0005516 9.61 MYO7A MYO3A MYO15A
3 actin filament binding GO:0051015 9.58 USH1C MYO7B MYO7A
4 actin binding GO:0003779 9.55 MYO7B MYO7A MYO3A MYO15A DIAPH1
5 microfilament motor activity GO:0000146 9.32 MYO7A MYO3A
6 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO3A
7 spectrin binding GO:0030507 9.13 USH1G USH1C MYO7A
8 motor activity GO:0003774 8.92 MYO7B MYO7A MYO3A MYO15A

Sources for Deafness, Autosomal Dominant 11

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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