DFNB3
MCID: DFN201
MIFTS: 35

Deafness, Autosomal Recessive 3 (DFNB3)

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

Aliases & Classifications for Deafness, Autosomal Recessive 3

MalaCards integrated aliases for Deafness, Autosomal Recessive 3:

Name: Deafness, Autosomal Recessive 3 58 30 13 6 74
Dfnb3 58 76 56
Neurosensory Nonsyndromic Recessive Deafness 3 58 76
Nsrd3 58 76
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3 76
Neurosensory Nonsyndromic Recessive Deafness 3; Nsrd3 58
Deafness Neurosensory Autosomal Recessive 3 76
Deafness, Autosomal Recessive, Type 3 41
Deafness, Autosomal Recessive, 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive (17p12-q12)


HPO:

33
deafness, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 600316
MeSH 45 D006319
MedGen 43 C1838263
SNOMED-CT via HPO 70 258211005
UMLS 74 C1838263

Summaries for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 3: 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.

MalaCards based summary : Deafness, Autosomal Recessive 3, also known as dfnb3, is related to autosomal recessive nonsyndromic deafness 3 and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Recessive 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways are Cytoskeleton remodeling_RalA regulation pathway and Cytoskeleton remodeling_RalB regulation pathway. Affiliated tissues include brain, and related phenotypes are profound sensorineural hearing impairment and hearing/vestibular/ear

Description from OMIM: 600316

Related Diseases for Deafness, Autosomal Recessive 3

Diseases in the Familial 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 31.2 GJB2 MYO15A MYO7A
2 nonsyndromic deafness 29.5 GJB2 MYO15A MYO7A
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
4 autosomal recessive nonsyndromic deafness 10.1 GJB2 MYO15A
5 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 MYO15A
6 deafness, autosomal recessive 21 10.1
7 deafness, autosomal dominant 11 9.9 MYO15A MYO7A
8 deafness, autosomal dominant 48 9.9 MYO15A MYO7A
9 deafness, autosomal recessive 85 9.9 MYO15A MYO7A
10 deafness, autosomal recessive 83 9.9 MYO15A MYO7A
11 deafness, autosomal dominant 22 9.9 MYO15A MYO7A
12 dfnb1 9.9 GJB2 MYO7A
13 deafness, autosomal recessive 37 9.9 MYO15A MYO7A
14 deafness, autosomal dominant 17 9.9 MYO15A MYO7A
15 deafness, autosomal recessive 23 9.9 GJB2 MYO7A
16 usher syndrome, type ic 9.8 MYO15A MYO7A
17 deafness, autosomal recessive 12 9.8 GJB2 MYO7A
18 deafness, autosomal recessive 6 9.8 GJB2 MYO7A
19 usher syndrome 9.8 GJB2 MYO7A
20 deafness, autosomal recessive 16 9.8 GJB2 MYO7A
21 deafness, autosomal dominant 6 9.8 GJB2 MYO7A
22 branchiootic syndrome 1 9.7 GJB2 MYO7A
23 deafness, autosomal dominant 13 9.7 GJB2 MYO7A
24 non-syndromic genetic deafness 9.7 GJB2 MYO15A
25 inner ear disease 9.7 GJB2 MYO7A
26 deafness, autosomal recessive 2 9.6 GJB2 MYO15A MYO7A
27 deafness, autosomal recessive 30 9.6 GJB2 MYO15A MYO7A
28 auditory system disease 9.6 GJB2 MYO15A MYO7A
29 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 MYO15A MYO7A
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 MYO7A
31 sensorineural hearing loss 9.6 GJB2 MYO15A MYO7A

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



Diseases related to Deafness, Autosomal Recessive 3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 3

Human phenotypes related to Deafness, Autosomal Recessive 3:

33
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 33 HP:0011476

Symptoms via clinical synopsis from OMIM:

58
Ears:
profound, congenital, neurosensory, nonsyndromal deafness

Clinical features from OMIM:

600316

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 3

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

Genetic Tests for Deafness, Autosomal Recessive 3

Genetic tests related to Deafness, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 3 30 MYO15A

Anatomical Context for Deafness, Autosomal Recessive 3

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

42
Brain

Publications for Deafness, Autosomal Recessive 3

Articles related to Deafness, Autosomal Recessive 3:

# Title Authors Year
1
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. ( 27398341 )
2016
2
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. ( 27635202 )
2016
3
DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15. ( 10868225 )
2000

Variations for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 3:

76
# Symbol AA change Variation ID SNP ID
1 MYO15A p.Asn2111Tyr VAR_010303 rs121908966
2 MYO15A p.Ile2113Phe VAR_010304 rs121908965
3 MYO15A p.Gln2716His VAR_037964 rs121908969
4 MYO15A p.Leu1806Pro VAR_071648

ClinVar genetic disease variations for Deafness, Autosomal Recessive 3:

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO15A NM_016239.3(MYO15A): c.4848C> G (p.Phe1616Leu) single nucleotide variant Uncertain significance rs368430972 GRCh37 Chromosome 17, 18040966: 18040966
2 MYO15A NM_016239.3(MYO15A): c.4848C> G (p.Phe1616Leu) single nucleotide variant Uncertain significance rs368430972 GRCh38 Chromosome 17, 18137652: 18137652
3 MYO15A NM_016239.3(MYO15A): c.7367C> G (p.Ala2456Gly) single nucleotide variant Uncertain significance rs199953758 GRCh37 Chromosome 17, 18054051: 18054051
4 MYO15A NM_016239.3(MYO15A): c.7367C> G (p.Ala2456Gly) single nucleotide variant Uncertain significance rs199953758 GRCh38 Chromosome 17, 18150737: 18150737
5 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh38 Chromosome 17, 18157155: 18157155
6 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh37 Chromosome 17, 18060469: 18060469
7 MYO15A NM_016239.3(MYO15A): c.1783G> A (p.Ala595Thr) single nucleotide variant Benign/Likely benign rs2955365 GRCh37 Chromosome 17, 18023897: 18023897
8 MYO15A NM_016239.3(MYO15A): c.1783G> A (p.Ala595Thr) single nucleotide variant Benign/Likely benign rs2955365 GRCh38 Chromosome 17, 18120583: 18120583
9 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh38 Chromosome 17, 18122111: 18122111
10 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh37 Chromosome 17, 18025425: 18025425
11 MYO15A NM_016239.3(MYO15A): c.5925G> A (p.Trp1975Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs375290498 GRCh38 Chromosome 17, 18143580: 18143580
12 MYO15A NM_016239.3(MYO15A): c.5925G> A (p.Trp1975Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs375290498 GRCh37 Chromosome 17, 18046894: 18046894
13 MYO15A NM_016239.3(MYO15A): c.10054G> A (p.Ala3352Thr) single nucleotide variant Uncertain significance rs367863299 GRCh38 Chromosome 17, 18167695: 18167695
14 MYO15A NM_016239.3(MYO15A): c.10054G> A (p.Ala3352Thr) single nucleotide variant Uncertain significance rs367863299 GRCh37 Chromosome 17, 18071009: 18071009
15 MYO15A NM_016239.4(MYO15A): c.9958_9961del (p.Asp3320Thrfs) deletion Pathogenic GRCh38 Chromosome 17, 18167599: 18167602
16 MYO15A NM_016239.4(MYO15A): c.10573del (p.Ser3525Alafs) deletion Pathogenic GRCh37 Chromosome 17, 18082164: 18082164
17 MYO15A NM_016239.4(MYO15A): c.10573del (p.Ser3525Alafs) deletion Pathogenic GRCh38 Chromosome 17, 18178850: 18178850
18 MYO15A NM_016239.4(MYO15A): c.9958_9961del (p.Asp3320Thrfs) deletion Pathogenic GRCh37 Chromosome 17, 18070913: 18070916
19 MYO15A NM_016239.4(MYO15A): c.8968-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 18158522: 18158522
20 MYO15A NM_016239.4(MYO15A): c.8968-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 17, 18061836: 18061836
21 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh37 Chromosome 17, 18049249: 18049249
22 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh38 Chromosome 17, 18145935: 18145935
23 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh37 Chromosome 17, 18049243: 18049243
24 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh38 Chromosome 17, 18145929: 18145929
25 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh37 Chromosome 17, 18055173: 18055173
26 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh38 Chromosome 17, 18151859: 18151859
27 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh37 Chromosome 17, 18027872: 18027872
28 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh38 Chromosome 17, 18124558: 18124558
29 MYO15A NM_016239.4(MYO15A): c.3756+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 18125232: 18125232
30 MYO15A NM_016239.4(MYO15A): c.3756+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 18028546: 18028546
31 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh37 Chromosome 17, 18057504: 18057504
32 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh38 Chromosome 17, 18154190: 18154190
33 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh37 Chromosome 17, 18025427: 18025427
34 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh38 Chromosome 17, 18122113: 18122113
35 MYO15A NM_016239.4(MYO15A): c.3336del (p.Arg1113Valfs) deletion Pathogenic GRCh38 Chromosome 17, 18122136: 18122136
36 MYO15A NM_016239.4(MYO15A): c.3336del (p.Arg1113Valfs) deletion Pathogenic GRCh37 Chromosome 17, 18025450: 18025450
37 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh37 Chromosome 17, 18044418: 18044418
38 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh38 Chromosome 17, 18141104: 18141104
39 MYO15A NM_016239.3(MYO15A): c.5826-12A> C single nucleotide variant Benign/Likely benign rs854778 GRCh37 Chromosome 17, 18046058: 18046058
40 MYO15A NM_016239.3(MYO15A): c.5826-12A> C single nucleotide variant Benign/Likely benign rs854778 GRCh38 Chromosome 17, 18142744: 18142744
41 MYO15A NM_016239.3(MYO15A): c.5929T> C (p.Cys1977Arg) single nucleotide variant Benign/Likely benign rs854777 GRCh37 Chromosome 17, 18046898: 18046898
42 MYO15A NM_016239.3(MYO15A): c.5929T> C (p.Cys1977Arg) single nucleotide variant Benign/Likely benign rs854777 GRCh38 Chromosome 17, 18143584: 18143584
43 MYO15A NM_016239.3(MYO15A): c.9861C> T (p.Gly3287=) single nucleotide variant Conflicting interpretations of pathogenicity rs372466080 GRCh37 Chromosome 17, 18069748: 18069748
44 MYO15A NM_016239.3(MYO15A): c.9861C> T (p.Gly3287=) single nucleotide variant Conflicting interpretations of pathogenicity rs372466080 GRCh38 Chromosome 17, 18166434: 18166434
45 MYO15A NM_016239.3(MYO15A): c.1899A> G (p.Pro633=) single nucleotide variant Benign/Likely benign rs2955366 GRCh37 Chromosome 17, 18024013: 18024013
46 MYO15A NM_016239.3(MYO15A): c.1899A> G (p.Pro633=) single nucleotide variant Benign/Likely benign rs2955366 GRCh38 Chromosome 17, 18120699: 18120699
47 MYO15A NM_016239.3(MYO15A): c.2152T> G (p.Trp718Gly) single nucleotide variant Benign/Likely benign rs2955367 GRCh37 Chromosome 17, 18024266: 18024266
48 MYO15A NM_016239.3(MYO15A): c.2152T> G (p.Trp718Gly) single nucleotide variant Benign/Likely benign rs2955367 GRCh38 Chromosome 17, 18120952: 18120952
49 MYO15A NM_016239.3(MYO15A): c.8340G> A (p.Thr2780=) single nucleotide variant Pathogenic rs878853228 GRCh38 Chromosome 17, 18155225: 18155225
50 MYO15A NM_016239.3(MYO15A): c.6340G> A (p.Val2114Met) single nucleotide variant Pathogenic rs377385081 GRCh38 Chromosome 17, 18145938: 18145938

Expression for Deafness, Autosomal Recessive 3

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

Pathways for Deafness, Autosomal Recessive 3

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

# Super pathways Score Top Affiliating Genes
1 10.5 MYO15A MYO7A
2 9.77 MYO15A MYO7A

GO Terms for Deafness, Autosomal Recessive 3

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

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO15A MYO7A
2 stereocilium GO:0032420 8.62 MYO15A MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.16 MYO15A MYO7A
2 inner ear development GO:0048839 8.96 GJB2 MYO7A
3 sensory perception of sound GO:0007605 8.8 GJB2 MYO15A MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.96 MYO15A MYO7A
2 motor activity GO:0003774 8.62 MYO15A MYO7A

Sources for Deafness, Autosomal Recessive 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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