DFNB3
MCID: ATS336
MIFTS: 31

Autosomal Recessive Nonsyndromic Deafness 3 (DFNB3)

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness 3

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness 3:

Name: Autosomal Recessive Nonsyndromic Deafness 3 12 15
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 12
Deafness, Autosomal Recessive 3 70
Dfnb3 12
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 32 H90.3
UMLS 70 C1838263

Summaries for Autosomal Recessive Nonsyndromic Deafness 3

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the MYO15A gene on chromosome 17p11.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness 3, also known as autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3, is related to deafness, autosomal recessive 3 and deafness, autosomal recessive 21. An important gene associated with Autosomal Recessive Nonsyndromic Deafness 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways are Sweet Taste Signaling and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include eye, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Nonsyndromic Deafness 3

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
Deafness, Autosomal Dominant 80 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 Autosomal Recessive Nonsyndromic Deafness 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 32.3 MYO7A MYO15A GJB2
2 deafness, autosomal recessive 21 29.5 TMC1 PJVK MYO15A LRTOMT GJB2
3 nonsyndromic deafness 29.4 TMC1 SLC26A4 MYO7A MYO15A LRTOMT GJB2
4 branchiootic syndrome 1 29.3 WHRN TMC1 SLC26A4 PJVK OTOF MYO7A
5 nonsyndromic hearing loss 28.4 TMC1 SLC26A4 PJVK OTOF MYO7A MYO6
6 rare genetic deafness 27.5 WHRN TMC1 SLC26A4 PJVK OTOF MYO7A
7 autosomal recessive non-syndromic sensorineural deafness type dfnb 26.9 WHRN TPRN TMC1 SLC26A4 PJVK OTOF
8 sensorineural hearing loss 26.9 WHRN TPRN TMC1 SLC26A4 OTOF MYO7A
9 autosomal recessive nonsyndromic deafness 26.4 WHRN TPRN TMC1 SLC26A4 PJVK OTOF
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
11 serous labyrinthitis 10.2 SLC26A4 GJB2
12 deafness, autosomal dominant 67 10.2 OTOF GJB2
13 deafness, autosomal recessive 27 10.2 TMC1 PJVK
14 usher syndrome, type iiib 10.2 WHRN MYO7A
15 deafness, autosomal recessive 25 10.2 PJVK MYO15A
16 deafness, autosomal recessive 85 10.2 PJVK OTOF
17 rare deafness 10.2 MYO7A CDH23
18 deafness, autosomal recessive 59 10.2 PJVK OTOF
19 deafness, autosomal recessive 22 10.2 PJVK MYO15A
20 deafness, autosomal recessive 86 10.2 WHRN CDH23
21 ear malformation 10.2 SLC26A4 GJB2
22 deafness, autosomal recessive 48 10.2 WHRN TMC1 MYO7A
23 deafness, autosomal dominant 56 10.2 WHRN SLC26A4 GJB2
24 deafness, autosomal dominant 25 10.2 OTOF MYO7A
25 dfnb1 10.2 OTOF MYO7A GJB2
26 deafness, autosomal recessive 49 10.1 PJVK MYO15A GJB2
27 labyrinthitis 10.1 SLC26A4 MYO7A GJB2
28 drug-induced hearing loss 10.1 SLC26A4 MYO7A GJB2
29 developmental and epileptic encephalopathy 16 10.1 LRTOMT GJB2
30 deafness, autosomal recessive 18a 10.1 MYO7A MYO15A CDH23
31 usher syndrome, type ih 10.1 WHRN MYO7A CDH23
32 usher syndrome, type ij 10.1 WHRN MYO7A CDH23
33 peripheral vertigo 10.1 SLC26A4 MYO7A GJB2
34 auditory neuropathy spectrum disorder 10.1 PJVK OTOF MYO7A
35 meniere disease 10.1 SLC26A4 MYO7A GJB2
36 auditory neuropathy, autosomal dominant, 1 10.1 PJVK OTOF GJB2
37 usher syndrome, type ig 10.1 WHRN MYO7A CDH23
38 digenic disease 10.1 WHRN MYO7A CDH23
39 deafness, autosomal dominant 41 10.1 SLC26A4 GJB2 CDH23
40 branchiootorenal syndrome 10.1 SLC26A4 OTOF GJB2
41 retinitis pigmentosa-deafness syndrome 10.1 WHRN MYO7A CDH23
42 deafness, autosomal recessive 102 10.1 WHRN MYO15A EPS8
43 deafness, autosomal recessive 62 10.1 MYO6 CDH23
44 deafness, autosomal recessive 53 10.1 PJVK LRTOMT
45 deafness, autosomal recessive 71 10.1 MYO7A MYO6
46 deafness, autosomal recessive 13 10.1 TMC1 PJVK MYO3A
47 eye degenerative disease 10.1 WHRN MYO7A CDH23
48 deafness, autosomal recessive 67 10.1 PJVK LRTOMT
49 baraitser-winter syndrome 10.0 SLC26A4 CDH23
50 deafness, autosomal dominant 15 10.0 TMC1 MYO7A MYO6

Graphical network of the top 20 diseases related to Autosomal Recessive Nonsyndromic Deafness 3:



Diseases related to Autosomal Recessive Nonsyndromic Deafness 3

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness 3

MGI Mouse Phenotypes related to Autosomal Recessive Nonsyndromic Deafness 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CDH23 EPS8 LRTOMT MYO15A MYO3A MYO6
2 hearing/vestibular/ear MP:0005377 9.83 CDH23 EPS8 GJB2 LRTOMT MYO15A MYO1A
3 nervous system MP:0003631 9.47 CDH23 EPS8 GJB2 LRTOMT MYO15A MYO3A

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness 3

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Nonsyndromic Deafness 3

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness 3

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness 3

MalaCards organs/tissues related to Autosomal Recessive Nonsyndromic Deafness 3:

40
Eye

Publications for Autosomal Recessive Nonsyndromic Deafness 3

Articles related to Autosomal Recessive Nonsyndromic Deafness 3:

(show all 43)
# Title Authors PMID Year
1
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant. 61
33784549 2021
2
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. 61
33428946 2021
3
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. 61
33372036 2020
4
[Analysis of MYO15A variation in children with DFNB3]. 61
32987461 2020
5
Linkage analysis of hearing impairment in families of Bannu Distric. 61
31740869 2019
6
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. 61
31700827 2019
7
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss. 61
30953472 2019
8
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness. 61
29482514 2018
9
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 61
28964305 2017
10
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. 61
27734841 2017
11
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 61
27375115 2016
12
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. 61
27635202 2016
13
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. 61
27398341 2016
14
A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss. 61
26810297 2016
15
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 61
25792667 2015
16
Linkage study of DFNB3 responsible for hearing loss in human. 61
24339546 2013
17
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. 61
22736430 2012
18
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss. 61
22245518 2012
19
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 61
20642360 2010
20
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. 61
19274735 2009
21
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. 61
19309289 2009
22
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
23
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. 61
17851452 2008
24
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. 61
17853461 2007
25
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. 61
17546645 2007
26
Age-related changes in cochlear gene expression in normal and shaker 2 mice. 61
16794912 2006
27
Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice. 61
16580798 2006
28
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. 61
14610277 2003
29
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. 61
12408074 2002
30
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 61
11735029 2001
31
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 61
11101839 2000
32
DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15. 61
10868225 2000
33
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. 61
10552926 1999
34
Unconventional myosins and the genetics of hearing loss. 61
10704189 1999
35
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 61
10330345 1999
36
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). 61
10049592 1999
37
A novel type of myosin encoded by the mouse deafness gene shaker-2. 61
9703981 1998
38
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 61
9603735 1998
39
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 61
9603736 1998
40
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. 61
9529344 1998
41
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 61
8789457 1996
42
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. 61
7616538 1995
43
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. 61
7704031 1995

Variations for Autosomal Recessive Nonsyndromic Deafness 3

Expression for Autosomal Recessive Nonsyndromic Deafness 3

Search GEO for disease gene expression data for Autosomal Recessive Nonsyndromic Deafness 3.

Pathways for Autosomal Recessive Nonsyndromic Deafness 3

Pathways related to Autosomal Recessive Nonsyndromic Deafness 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 MYO7A MYO6 MYO3A MYO1A MYO15A
2
Show member pathways
12.44 MYO7A MYO6 MYO3A MYO1A MYO15A
3
Show member pathways
12.39 MYO7A MYO6 MYO3A MYO1A MYO15A
4
Show member pathways
11.73 MYO7A MYO6 MYO3A MYO1A MYO15A
5 10.57 MYO7A MYO6 MYO3A MYO1A MYO15A

GO Terms for Autosomal Recessive Nonsyndromic Deafness 3

Cellular components related to Autosomal Recessive Nonsyndromic Deafness 3 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 WHRN TMC1 SLC26A4 OTOF MYO6 MYO1A
2 cell projection GO:0042995 10.01 WHRN TPRN PJVK OTOF MYO6 MYO3A
3 cell junction GO:0030054 9.91 WHRN OTOF MYO7A GJB2 EPS8
4 actin cytoskeleton GO:0015629 9.78 MYO7A MYO6 MYO1A MYO15A
5 vesicle GO:0031982 9.77 MYO7A MYO6 MYO1A MYO15A EPS8
6 cell cortex GO:0005938 9.67 MYO7A MYO6 EPS8
7 microvillus GO:0005902 9.63 MYO7A MYO6 MYO1A
8 filamentous actin GO:0031941 9.61 MYO6 MYO3A MYO1A
9 stereocilium bundle GO:0032421 9.5 WHRN MYO15A EPS8
10 stereocilium tip GO:0032426 9.46 WHRN TMC1 MYO3A EPS8
11 stereocilium base GO:0120044 9.43 TPRN PJVK MYO7A
12 myosin complex GO:0016459 9.35 MYO7A MYO6 MYO3A MYO1A MYO15A
13 stereocilium GO:0032420 9.17 WHRN TPRN MYO7A MYO3A MYO15A EPS8

Biological processes related to Autosomal Recessive Nonsyndromic Deafness 3 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.73 MYO7A MYO6 MYO1A MYO15A
2 inner ear morphogenesis GO:0042472 9.63 MYO7A MYO6 MYO15A
3 inner ear receptor cell stereocilium organization GO:0060122 9.54 WHRN MYO7A CDH23
4 actin filament-based movement GO:0030048 9.52 MYO7A MYO6
5 equilibrioception GO:0050957 9.51 MYO7A CDH23
6 auditory receptor cell stereocilium organization GO:0060088 9.5 WHRN TPRN MYO7A
7 auditory receptor cell development GO:0060117 9.49 TMC1 LRTOMT
8 inner ear auditory receptor cell differentiation GO:0042491 9.48 MYO7A MYO6
9 sensory perception of sound GO:0007605 9.47 WHRN TPRN TMC1 SLC26A4 PJVK OTOF
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 WHRN TMC1 PJVK
11 stereocilium maintenance GO:0120045 9.4 TPRN PJVK
12 sensory perception of light stimulus GO:0050953 9.33 WHRN MYO7A CDH23
13 vesicle transport along actin filament GO:0030050 9.26 MYO7A MYO6 MYO1A MYO15A

Molecular functions related to Autosomal Recessive Nonsyndromic Deafness 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 MYO7A MYO6 MYO3A MYO1A MYO15A EPS8
2 calmodulin binding GO:0005516 9.72 MYO7A MYO6 MYO3A MYO1A MYO15A
3 actin filament binding GO:0051015 9.71 MYO7A MYO6 MYO1A MYO15A
4 motor activity GO:0003774 9.55 MYO7A MYO6 MYO3A MYO1A MYO15A
5 ADP binding GO:0043531 9.54 MYO7A MYO6 MYO3A
6 microfilament motor activity GO:0000146 9.35 MYO7A MYO6 MYO3A MYO1A MYO15A
7 actin-dependent ATPase activity GO:0030898 9.02 MYO7A MYO6 MYO3A MYO1A MYO15A

Sources for Autosomal Recessive Nonsyndromic Deafness 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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