DFNB30
MCID: DFN203
MIFTS: 42

Deafness, Autosomal Recessive 30 (DFNB30)

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

Aliases & Classifications for Deafness, Autosomal Recessive 30

MalaCards integrated aliases for Deafness, Autosomal Recessive 30:

Name: Deafness, Autosomal Recessive 30 56 29 13 6 71
Dfnb30 56 12 73
Autosomal Recessive Nonsyndromic Deafness 30 12 15
Deafness, Autosomal Recessive, Type 30 39
Deafness, Autosomal Recessive, 30 73
Autosomal Recessive Deafness 30 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies
based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)


HPO:

31
deafness, autosomal recessive 30:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110489
OMIM 56 607101
OMIM Phenotypic Series 56 PS220290
MeSH 43 D003638
ICD10 32 H90.3
MedGen 41 C1846784
SNOMED-CT via HPO 68 258211005
UMLS 71 C1846784

Summaries for Deafness, Autosomal Recessive 30

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 30: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 30, also known as dfnb30, is related to branchiootic syndrome 1 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 30 is MYO3A (Myosin IIIA), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye, and related phenotypes are progressive hearing impairment and progressive sensorineural hearing impairment

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 mutations in the MYO3A gene on chromosome 10p12.1.

More information from OMIM: 607101 PS220290

Related Diseases for Deafness, Autosomal Recessive 30

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 Recessive 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.8 WHRN MYO7A
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.4 WHRN PCDH15 MYO7A MYO6 MYO3A MYO15A
3 nonsyndromic hearing loss 28.4 PCDH15 MYO7A MYO6 MYO3A MYO15A MYH14
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 deafness, autosomal recessive 3 10.3 MYO7A MYO15A
6 non-syndromic genetic deafness 10.3 MYO3A MYO15A
7 deafness, autosomal recessive 7 10.3 MYO7A MYO15A
8 nonsyndromic deafness 10.3 PCDH15 MYO15A
9 deafness, autosomal recessive 83 10.2 MYO7A MYO15A
10 deafness, autosomal recessive 25 10.2 MYO15A ESPNL
11 deafness, autosomal recessive 1b 10.2 MYO15A ESPN
12 deafness, autosomal recessive 102 10.2 WHRN MYO15A
13 retinal degeneration 10.2
14 deafness, autosomal recessive 63 10.2 MYO7A MYO15A
15 dfnb1 10.1 PCDH15 MYO7A
16 deafness, autosomal recessive 16 10.1 PCDH15 MYO15A
17 deafness, autosomal dominant 65 10.1 WHRN PCDH15
18 deafness, autosomal recessive 28 10.1 MYO15A ESPNL ESPN
19 deafness, autosomal recessive 79 10.1 WHRN MYO3A MYO15A
20 deafness, autosomal recessive 86 10.0 WHRN PCDH15
21 deafness, autosomal dominant 36 10.0 PCDH15 MYO15A
22 deafness, autosomal recessive 9 10.0 MYO7A MYO15A
23 deafness, autosomal recessive 18a 9.9 PCDH15 MYO7A MYO15A
24 y-linked monogenic disease 9.9 PCDH15 MYO1A
25 vestibular disease 9.9 PCDH15 MYO7A MYO15A
26 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 PCDH15 MYO7A MYO15A
27 usher syndrome, type ig 9.9 WHRN PCDH15
28 usher syndrome, type ih 9.9 WHRN PCDH15 MYO7A
29 usher syndrome, type ij 9.9 WHRN PCDH15 MYO7A
30 usher syndrome, type iiib 9.8 WHRN PCDH15 MYO7A
31 deafness, autosomal recessive 48 9.8 WHRN PCDH15 MYO7A
32 usher syndrome, type ic 9.8 WHRN PCDH15 MYO7A
33 usher syndrome, type iia 9.8 WHRN PCDH15 MYO7A
34 digenic disease 9.8 WHRN PCDH15 MYO7A
35 eye degenerative disease 9.8 WHRN PCDH15 MYO7A
36 deafness, autosomal recessive 15 9.8 MYO6 MYO15A
37 deafness, autosomal dominant 15 9.7 MYO7A MYO6
38 deafness, autosomal dominant 16 9.7 MYO6 MYH14
39 deafness, autosomal dominant 9 9.7 MYO7A MYO6
40 deafness, autosomal recessive 23 9.7 WHRN PCDH15 MYO7A MYO15A
41 usher syndrome, type if 9.7 WHRN PCDH15 MYO7A MYO15A
42 usher syndrome, type iic 9.7 WHRN PCDH15 MYO7A MYO15A
43 usher syndrome, type id 9.7 WHRN PCDH15 MYO7A MYO15A
44 deafness, autosomal recessive 12 9.6 WHRN PCDH15 MYO7A MYO15A
45 usher syndrome, type iiia 9.6 WHRN PCDH15 MYO7A MYO15A
46 bardet-biedl syndrome 9.6 WHRN PCDH15 MYO7A MYO3B
47 deafness, autosomal dominant 1 9.5 MYO7A MYO3A MYO15A MYH14 ESPN
48 autosomal recessive nonsyndromic deafness 9.5 WHRN PCDH15 MYO7A MYO3A MYO15A
49 deafness, autosomal recessive 2 9.5 WHRN PCDH15 MYO7A MYO3A MYO15A
50 usher syndrome, type iid 9.4 WHRN PCDH15 MYO7A MYO15A ESPN

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 30:



Diseases related to Deafness, Autosomal Recessive 30

Symptoms & Phenotypes for Deafness, Autosomal Recessive 30

Human phenotypes related to Deafness, Autosomal Recessive 30:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730
2 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe)

Clinical features from OMIM:

607101

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 30:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ESPN ESPNL MYO15A MYO3A MYO3B MYO6
2 hearing/vestibular/ear MP:0005377 9.61 ESPN ESPNL MYO15A MYO1A MYO3A MYO6
3 nervous system MP:0003631 9.28 ESPN MYH14 MYO15A MYO3A MYO3B MYO6

Drugs & Therapeutics for Deafness, Autosomal Recessive 30

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 30

Genetic Tests for Deafness, Autosomal Recessive 30

Genetic tests related to Deafness, Autosomal Recessive 30:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 30 29 MYO3A

Anatomical Context for Deafness, Autosomal Recessive 30

MalaCards organs/tissues related to Deafness, Autosomal Recessive 30:

40
Eye

Publications for Deafness, Autosomal Recessive 30

Articles related to Deafness, Autosomal Recessive 30:

# Title Authors PMID Year
1
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. 61 56 6
12032315 2002
2
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 61 6
21165622 2011
3
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
4
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear. 61
30123247 2018
5
Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment. 61
27063751 2016
6
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. 61
26754646 2016
7
A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region. 61
23503914 2013
8
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
9
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. 61
15605408 2005

Variations for Deafness, Autosomal Recessive 30

ClinVar genetic disease variations for Deafness, Autosomal Recessive 30:

6 (show top 50) (show all 148) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO3A NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)deletion Pathogenic 655296 rs760866131 10:26377141-26377142 10:26088212-26088213
2 MYO3A NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)duplication Pathogenic 802566 10:26463140-26463141 10:26174211-26174212
3 MYO3A NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter)SNV Pathogenic 627462 rs1564544199 10:26385519-26385519 10:26096590-26096590
4 MYO3A NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter)SNV Pathogenic 627463 rs1564544348 10:26385567-26385567 10:26096638-26096638
5 MYO3A NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)SNV Pathogenic 4014 rs193919333 10:26457658-26457658 10:26168729-26168729
6 MYO3A NM_017433.5(MYO3A):c.1777-12G>ASNV Pathogenic 4015 rs1564568849 10:26409593-26409593 10:26120664-26120664
7 MYO3A NM_017433.5(MYO3A):c.732-2A>GSNV Pathogenic 4016 rs1023746725 10:26312949-26312949 10:26024020-26024020
8 MYO3A NM_017433.5(MYO3A):c.2636-1G>TSNV Likely pathogenic 627464 rs1564602202 10:26442778-26442778 10:26153849-26153849
9 MYO3A NM_017433.5(MYO3A):c.3499del (p.Ser1167fs)deletion Likely pathogenic 618746 rs752046945 10:26462691-26462691 10:26173762-26173762
10 MYO3A NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)SNV Conflicting interpretations of pathogenicity 178465 rs143918373 10:26385390-26385390 10:26096461-26096461
11 MYO3A NM_017433.5(MYO3A):c.1777-14G>TSNV Conflicting interpretations of pathogenicity 164618 rs4592324 10:26409591-26409591 10:26120662-26120662
12 MYO3A NM_017433.5(MYO3A):c.2133G>A (p.Leu711=)SNV Conflicting interpretations of pathogenicity 164619 rs56147819 10:26417338-26417338 10:26128409-26128409
13 MYO3A NM_017433.5(MYO3A):c.2973G>T (p.Arg991=)SNV Conflicting interpretations of pathogenicity 164624 rs146647767 10:26446418-26446418 10:26157489-26157489
14 MYO3A NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=)SNV Conflicting interpretations of pathogenicity 164625 rs61731629 10:26462601-26462601 10:26173672-26173672
15 MYO3A NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala)SNV Conflicting interpretations of pathogenicity 178469 rs35675577 10:26462777-26462777 10:26173848-26173848
16 MYO3A NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu)SNV Conflicting interpretations of pathogenicity 178472 rs147749053 10:26491895-26491895 10:26202966-26202966
17 MYO3A NM_017433.5(MYO3A):c.177C>T (p.Asp59=)SNV Conflicting interpretations of pathogenicity 164603 rs139958275 10:26243811-26243811 10:25954882-25954882
18 MYO3A NM_017433.5(MYO3A):c.546G>T (p.Arg182=)SNV Conflicting interpretations of pathogenicity 178460 rs148349532 10:26305786-26305786 10:26016857-26016857
19 MYO3A NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)SNV Conflicting interpretations of pathogenicity 178622 rs61731652 10:26315457-26315457 10:26026528-26026528
20 MYO3A NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)SNV Conflicting interpretations of pathogenicity 178459 rs3758442 10:26359111-26359111 10:26070182-26070182
21 MYO3A NM_017433.5(MYO3A):c.1971T>C (p.Thr657=)SNV Conflicting interpretations of pathogenicity 164617 rs112195128 10:26414394-26414394 10:26125465-26125465
22 MYO3A NM_017433.5(MYO3A):c.2625G>C (p.Leu875=)SNV Conflicting interpretations of pathogenicity 179937 rs371741845 10:26436478-26436478 10:26147549-26147549
23 MYO3A NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)SNV Conflicting interpretations of pathogenicity 178466 rs61729833 10:26455024-26455024 10:26166095-26166095
24 MYO3A NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)SNV Conflicting interpretations of pathogenicity 178467 rs138955440 10:26459422-26459422 10:26170493-26170493
25 MYO3A NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)SNV Conflicting interpretations of pathogenicity 178468 rs184043065 10:26462731-26462731 10:26173802-26173802
26 MYO3A NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)SNV Conflicting interpretations of pathogenicity 45799 rs72787346 10:26377331-26377331 10:26088402-26088402
27 MYO3A NM_017433.5(MYO3A):c.2169T>C (p.Asn723=)SNV Conflicting interpretations of pathogenicity 45802 rs114982270 10:26417374-26417374 10:26128445-26128445
28 MYO3A NM_017433.5(MYO3A):c.3000-11T>CSNV Conflicting interpretations of pathogenicity 45805 rs375346333 10:26454985-26454985 10:26166056-26166056
29 MYO3A NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr)SNV Conflicting interpretations of pathogenicity 45810 rs35575696 10:26463052-26463052 10:26174123-26174123
30 MYO3A NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile)SNV Conflicting interpretations of pathogenicity 45813 rs34151474 10:26463443-26463443 10:26174514-26174514
31 MYO3A NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)SNV Conflicting interpretations of pathogenicity 45816 rs147376000 10:26482160-26482160 10:26193231-26193231
32 MYO3A NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)SNV Conflicting interpretations of pathogenicity 631635 rs138593211 10:26491987-26491987 10:26203058-26203058
33 MYO3A NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)SNV Conflicting interpretations of pathogenicity 228981 rs142823078 10:26442848-26442848 10:26153919-26153919
34 MYO3A NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met)SNV Conflicting interpretations of pathogenicity 226795 rs35447806 10:26457662-26457662 10:26168733-26168733
35 MYO3A NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=)SNV Conflicting interpretations of pathogenicity 227666 rs146832858 10:26462922-26462922 10:26173993-26173993
36 MYO3A NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)SNV Conflicting interpretations of pathogenicity 227667 rs148993025 10:26462923-26462923 10:26173994-26173994
37 MYO3A NM_017433.5(MYO3A):c.4730+11A>CSNV Conflicting interpretations of pathogenicity 227671 rs375717548 10:26492047-26492047 10:26203118-26203118
38 MYO3A NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)SNV Conflicting interpretations of pathogenicity 290824 rs146693681 10:26463125-26463125 10:26174196-26174196
39 MYO3A NM_017433.5(MYO3A):c.4407T>C (p.Asn1469=)SNV Conflicting interpretations of pathogenicity 299677 rs199843655 10:26465743-26465743 10:26176814-26176814
40 MYO3A NM_017433.5(MYO3A):c.906G>A (p.Thr302=)SNV Conflicting interpretations of pathogenicity 299649 rs139818474 10:26315414-26315414 10:26026485-26026485
41 MYO3A NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)SNV Conflicting interpretations of pathogenicity 299667 rs35541310 10:26457784-26457784 10:26168855-26168855
42 MYO3A NM_017433.5(MYO3A):c.1662-9T>ASNV Conflicting interpretations of pathogenicity 299657 rs200678745 10:26385488-26385488 10:26096559-26096559
43 MYO3A NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=)SNV Conflicting interpretations of pathogenicity 299679 rs139504940 10:26482225-26482225 10:26193296-26193296
44 MYO3A NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)SNV Conflicting interpretations of pathogenicity 299646 rs3737274 10:26310456-26310456 10:26021527-26021527
45 MYO3A NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu)SNV Uncertain significance 299648 rs886046919 10:26315367-26315367 10:26026438-26026438
46 MYO3A NM_017433.5(MYO3A):c.1583T>C (p.Ile528Thr)SNV Uncertain significance 299656 rs886046922 10:26385330-26385330 10:26096401-26096401
47 MYO3A NM_017433.5(MYO3A):c.4743G>A (p.Ala1581=)SNV Uncertain significance 299680 rs886046927 10:26500784-26500784 10:26211855-26211855
48 MYO3A NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn)SNV Uncertain significance 299644 rs144008984 10:26241191-26241191 10:25952262-25952262
49 MYO3A NM_017433.5(MYO3A):c.938G>A (p.Gly313Asp)SNV Uncertain significance 299650 rs527881627 10:26315446-26315446 10:26026517-26026517
50 MYO3A NM_017433.5(MYO3A):c.1746A>G (p.Gln582=)SNV Uncertain significance 299658 rs775168365 10:26385581-26385581 10:26096652-26096652

Expression for Deafness, Autosomal Recessive 30

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 30.

Pathways for Deafness, Autosomal Recessive 30

Pathways related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
2
Show member pathways
13.09 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
3
Show member pathways
12.98 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
4
Show member pathways
12.75 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
5
Show member pathways
12.59 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
6
Show member pathways
12.53 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
7 11.92 MYO6 MYO1A MYH14
8
Show member pathways
11.88 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
9 10.71 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A

GO Terms for Deafness, Autosomal Recessive 30

Cellular components related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.23 WHRN PCDH15 MYO7A MYO6 MYO3B MYO3A
2 cell projection GO:0042995 9.92 WHRN MYO6 MYO3B MYO3A MYO15A MORN4
3 actin cytoskeleton GO:0015629 9.83 MYO7A MYO6 MYO1A MYO15A ESPN
4 vesicle GO:0031982 9.78 MYO7A MYO6 MYO1A MYO15A
5 microvillus GO:0005902 9.71 MYO7A MYO6 MYO1A ESPN
6 myosin complex GO:0016459 9.7 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
7 brush border GO:0005903 9.67 MYO1A MYH14 ESPN
8 filamentous actin GO:0031941 9.56 MYO6 MYO3A MYO1A ESPN
9 stereocilium bundle GO:0032421 9.54 WHRN MYO15A ESPN
10 photoreceptor connecting cilium GO:0032391 9.52 WHRN MYO7A
11 filopodium tip GO:0032433 9.51 MYO3A MORN4
12 stereocilium tip GO:0032426 9.43 WHRN MYO3B MYO3A MORN4 ESPNL ESPN
13 stereocilium GO:0032420 9.28 WHRN PCDH15 MYO7A MYO3B MYO3A MYO15A

Biological processes related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.76 PCDH15 MYO7A MYO3B MYO3A
2 locomotory behavior GO:0007626 9.69 PCDH15 MYO15A ESPN
3 inner ear morphogenesis GO:0042472 9.65 MYO7A MYO6 MYO15A
4 inner ear receptor cell stereocilium organization GO:0060122 9.61 WHRN PCDH15 MYO7A
5 actin filament-based movement GO:0030048 9.58 MYO7A MYO6 MYH14
6 actin filament bundle assembly GO:0051017 9.55 ESPNL ESPN
7 actin filament organization GO:0007015 9.55 PCDH15 MYO7A MYO6 MYO1A MYO15A
8 cochlea morphogenesis GO:0090103 9.54 MYO3B MYO3A
9 auditory receptor cell stereocilium organization GO:0060088 9.54 WHRN PCDH15 MYO7A
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.52 WHRN PCDH15
11 sensory perception of light stimulus GO:0050953 9.5 WHRN PCDH15 MYO7A
12 equilibrioception GO:0050957 9.49 PCDH15 MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.43 PCDH15 MYO7A MYO6
14 sensory perception of sound GO:0007605 9.36 WHRN PCDH15 MYO7A MYO6 MYO3B MYO3A
15 vesicle transport along actin filament GO:0030050 9.26 MYO7A MYO6 MYO1A MYO15A

Molecular functions related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
2 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
3 actin filament binding GO:0051015 9.87 MYO7A MYO6 MYO1A MYO15A MYH14 ESPNL
4 calmodulin binding GO:0005516 9.85 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
5 actin binding GO:0003779 9.81 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
6 motor activity GO:0003774 9.8 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
7 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
8 microfilament motor activity GO:0000146 9.43 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
9 actin-dependent ATPase activity GO:0030898 9.1 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14

Sources for Deafness, Autosomal Recessive 30

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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