DFNB37
MCID: DFN197
MIFTS: 43

Deafness, Autosomal Recessive 37 (DFNB37)

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

Aliases & Classifications for Deafness, Autosomal Recessive 37

MalaCards integrated aliases for Deafness, Autosomal Recessive 37:

Name: Deafness, Autosomal Recessive 37 56 29 13 6 71
Dfnb37 56 12 73
Autosomal Recessive Nonsyndromic Deafness 37 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 73
Congenital Neurosensory Deafness Autosomal Recessive 37 73
Deafness, Autosomal Recessive, Type 37 39
Deafness, Autosomal Recessive, 37 73
Autosomal Recessive Deafness 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 consanguineous pakistani families (last curated august 2015)
eye and vestibular findings were found in some members of one family


HPO:

31
deafness, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110495
OMIM 56 607821
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1843028
UMLS 71 C1843028

Summaries for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 37: 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 37, also known as dfnb37, is related to branchiootic syndrome 1 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 37 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain and eye, and related phenotypes are rod-cone dystrophy and congenital stationary night blindness

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the MYO6 gene on chromosome 6q14.

More information from OMIM: 607821 PS220290

Related Diseases for Deafness, Autosomal Recessive 37

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.7 PTPRQ MYO7A
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.4 TRIOBP TPRN PTPRQ MYO7A MYO6 MYO3A
3 deafness, autosomal dominant 22 26.2 TPRN RGS19 PTPRQ MYO7A MYO6 MYO3A
4 deafness, autosomal recessive 3 10.4 MYO7A MYO15A
5 deafness, autosomal recessive 7 10.4 MYO7A MYO15A
6 deafness, autosomal recessive 18a 10.3 MYO7A MYO15A
7 deafness, autosomal recessive 63 10.2 MYO7A MYO15A
8 deafness, autosomal recessive 25 10.2 TRIOBP MYO15A
9 deafness, autosomal dominant 15 10.2 MYO7A MYO6
10 deafness, autosomal recessive 1b 10.2 TPRN MYO15A
11 deafness, autosomal recessive 13 10.2 MYO3A GIPC3
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
13 deafness, autosomal recessive 35 10.2 TRIOBP MYO15A
14 deafness, autosomal dominant 9 10.2 MYO7A MYO6
15 deafness, x-linked 3 10.2 TRIOBP TPRN
16 usher syndrome, type iid 10.2 MYO7A MYO15A
17 deafness, autosomal recessive 23 10.1 MYO7A MYO15A
18 deafness, autosomal recessive 2 10.1 MYO7A MYO3A MYO15A
19 deafness, autosomal recessive 9 10.1 MYO7A MYO15A
20 non-syndromic genetic deafness 10.1 TRIOBP MYO3A MYO15A
21 usher syndrome, type if 10.0 MYO7A MYO15A
22 deafness, autosomal recessive 16 10.0 PTPRQ MYO15A
23 deafness, autosomal dominant 16 10.0 MYO6 MYH14
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 TRIOBP MYO7A MYO15A
25 autosomal recessive nonsyndromic deafness 36 10.0 TRIOBP TPRN MYO3A
26 deafness, autosomal recessive 39 10.0 TRIOBP PTPRQ
27 deafness, autosomal recessive 28 10.0 TRIOBP TPRN MYO15A
28 deafness, autosomal recessive 24 10.0 TRIOBP TPRN MYO15A
29 vestibular disease 10.0 MYO7A MYO15A
30 deafness, autosomal dominant 11 9.9 MYO7A MYO6 MYO3A MYO15A
31 deafness, autosomal recessive 83 9.9 PTPRQ MYO7A MYO15A
32 usher syndrome, type iic 9.9 PTPRQ MYO7A MYO15A
33 usher syndrome, type id 9.9 PTPRQ MYO7A MYO15A
34 usher syndrome type 2 9.9 PTPRQ MYO7A MYO15A
35 deafness, autosomal recessive 22 9.9 TRIOBP PTPRQ MYO15A
36 usher syndrome 9.8 PTPRQ MYO7A MYO3A MYO15A
37 deafness, autosomal recessive 79 9.7 TPRN PTPRQ MYO3A MYO15A
38 autosomal recessive nonsyndromic deafness 3 9.7 TPRN MYO7A MYO6 MYO3A MYO15A
39 deafness, autosomal recessive 12 9.7 TRIOBP PTPRQ MYO7A MYO15A
40 deafness, autosomal recessive 61 9.6 TRIOBP TPRN PTPRQ MYO3A
41 rare genetic deafness 9.6 MYO7A MYO6 MYO3A MYO15A GIPC3
42 deafness, autosomal recessive 15 9.5 RGS19 MYO6 MYO15A GIPC3
43 deafness, autosomal recessive 9.4 TPRN PTPRQ MYO6 MYO3A GIPC3
44 auditory system disease 9.4 TRIOBP TPRN MYO7A MYO6 MYO3A MYO15A
45 autosomal recessive nonsyndromic deafness 9.3 TRIOBP TPRN MYO7A MYO3A MYO15A GIPC3
46 autosomal dominant non-syndromic sensorineural deafness type dfna 9.3 PTPRQ MYO7A MYO6 MYO1A MYH14
47 deafness, autosomal recessive 30 9.3 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
48 nonsyndromic hearing loss 9.2 TRIOBP MYO7A MYO6 MYO3A MYO15A MYH14
49 usher syndrome, type i 9.2 TRIOBP TPRN PTPRQ MYO7A MYO3A MYO15A
50 deafness, autosomal dominant 17 9.0 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 37:



Diseases related to Deafness, Autosomal Recessive 37

Symptoms & Phenotypes for Deafness, Autosomal Recessive 37

Human phenotypes related to Deafness, Autosomal Recessive 37:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
2 congenital stationary night blindness 31 occasional (7.5%) HP:0007642
3 vestibular dysfunction 31 very rare (1%) HP:0001751
4 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, bilateral (severe to profound)
vestibular dysfunction (in 2 patients)

Head And Neck Eyes:
retinitis pigmentosa (in 1 patient)
congenital stationary night blindness (in 1 patient)

Clinical features from OMIM:

607821

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 37:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.65 DNAJC17 GIPC3 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.28 GIPC3 MYH14 MYO15A MYO3A MYO6 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 37

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 37

Genetic Tests for Deafness, Autosomal Recessive 37

Genetic tests related to Deafness, Autosomal Recessive 37:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 37 29 MYO6

Anatomical Context for Deafness, Autosomal Recessive 37

MalaCards organs/tissues related to Deafness, Autosomal Recessive 37:

40
Brain, Eye

Publications for Deafness, Autosomal Recessive 37

Articles related to Deafness, Autosomal Recessive 37:

# Title Authors PMID Year
1
Mutations of MYO6 are associated with recessive deafness, DFNB37. 61 56 6
12687499 2003
2
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
3
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells. 61
28832620 2017
4
Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. 61
27474411 2016
5
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
6
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. 61
25999546 2015
7
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. 61
23635807 2013
8
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. 61
18212818 2008
9
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008

Variations for Deafness, Autosomal Recessive 37

ClinVar genetic disease variations for Deafness, Autosomal Recessive 37:

6 (show top 50) (show all 172) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO6 NM_004999.4(MYO6):c.36dup (p.Thr13fs)duplication Pathogenic 8578 rs1562201376 6:76527299-76527300 6:75817582-75817583
2 MYO6 NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)SNV Pathogenic 8579 rs121912558 6:76623836-76623836 6:75914119-75914119
3 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)SNV Pathogenic 164634 rs727503326 6:76554623-76554623 6:75844906-75844906
4 MYO6 NM_004999.4(MYO6):c.*2547G>ASNV Conflicting interpretations of pathogenicity 358031 rs148652044 6:76627276-76627276 6:75917559-75917559
5 MYO6 NM_004999.4(MYO6):c.*4481T>CSNV Conflicting interpretations of pathogenicity 358063 rs142744723 6:76629210-76629210 6:75919493-75919493
6 MYO6 NM_004999.4(MYO6):c.*875C>TSNV Conflicting interpretations of pathogenicity 358008 rs184099248 6:76625604-76625604 6:75915887-75915887
7 MYO6 NM_004999.4(MYO6):c.*1232C>TSNV Conflicting interpretations of pathogenicity 358012 rs182487428 6:76625961-76625961 6:75916244-75916244
8 MYO6 NM_004999.4(MYO6):c.3333G>A (p.Val1111=)SNV Conflicting interpretations of pathogenicity 45155 rs114970874 6:76618265-76618265 6:75908548-75908548
9 MYO6 NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)SNV Conflicting interpretations of pathogenicity 45158 rs61734891 6:76623903-76623903 6:75914186-75914186
10 MYO6 NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)SNV Conflicting interpretations of pathogenicity 45159 rs41269323 6:76624538-76624538 6:75914821-75914821
11 MYO6 NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)SNV Conflicting interpretations of pathogenicity 45160 rs146461956 6:76624695-76624695 6:75914978-75914978
12 MYO6 NM_004999.4(MYO6):c.600C>T (p.Asn200=)SNV Conflicting interpretations of pathogenicity 45166 rs145665265 6:76550348-76550348 6:75840631-75840631
13 MYO6 NM_004999.4(MYO6):c.441C>T (p.Ile147=)SNV Conflicting interpretations of pathogenicity 180087 rs565770950 6:76542608-76542608 6:75832891-75832891
14 MYO6 NM_004999.4(MYO6):c.1674+13A>GSNV Conflicting interpretations of pathogenicity 178623 rs6925845 6:76572453-76572453 6:75862736-75862736
15 MYO6 NM_004999.4(MYO6):c.2595C>T (p.Pro865=)SNV Conflicting interpretations of pathogenicity 178474 rs150876010 6:76596648-76596648 6:75886931-75886931
16 MYO6 NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=)SNV Conflicting interpretations of pathogenicity 164644 rs138437852 6:76617391-76617391 6:75907674-75907674
17 MYO6 NM_004999.4(MYO6):c.188-3T>CSNV Conflicting interpretations of pathogenicity 227673 rs373199401 6:76538254-76538254 6:75828537-75828537
18 MYO6 NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)SNV Conflicting interpretations of pathogenicity 259604 rs111530469 6:76564921-76564921 6:75855204-75855204
19 MYO6 NM_004999.4(MYO6):c.2517T>C (p.Gly839=)SNV Conflicting interpretations of pathogenicity 259605 rs112597191 6:76596570-76596570 6:75886853-75886853
20 MYO6 NM_004999.4(MYO6):c.262-9C>TSNV Conflicting interpretations of pathogenicity 357989 rs187811833 6:76540124-76540124 6:75830407-75830407
21 MYO6 NM_004999.4(MYO6):c.1180G>A (p.Val394Ile)SNV Conflicting interpretations of pathogenicity 357994 rs373519764 6:76564957-76564957 6:75855240-75855240
22 MYO6 NM_004999.4(MYO6):c.*1607C>TSNV Conflicting interpretations of pathogenicity 358018 rs77813459 6:76626336-76626336 6:75916619-75916619
23 MYO6 NM_004999.4(MYO6):c.*1738A>GSNV Conflicting interpretations of pathogenicity 358021 rs193019967 6:76626467-76626467 6:75916750-75916750
24 MYO6 NM_004999.4(MYO6):c.*1785A>CSNV Conflicting interpretations of pathogenicity 358022 rs139803503 6:76626514-76626514 6:75916797-75916797
25 MYO6 NM_004999.4(MYO6):c.*2996A>GSNV Conflicting interpretations of pathogenicity 358037 rs536099586 6:76627725-76627725 6:75918008-75918008
26 MYO6 NM_004999.4(MYO6):c.*3230T>CSNV Conflicting interpretations of pathogenicity 358039 rs562815854 6:76627959-76627959 6:75918242-75918242
27 MYO6 NM_004999.4(MYO6):c.-49C>GSNV Conflicting interpretations of pathogenicity 357987 rs149130280 6:76459139-76459139 6:75749422-75749422
28 MYO6 NM_004999.4(MYO6):c.*3879G>ASNV Conflicting interpretations of pathogenicity 358051 rs189646143 6:76628608-76628608 6:75918891-75918891
29 MYO6 NM_004999.4(MYO6):c.2672C>T (p.Thr891Met)SNV Conflicting interpretations of pathogenicity 357997 rs146682372 6:76599787-76599787 6:75890070-75890070
30 MYO6 NM_004999.4(MYO6):c.*1528C>TSNV Conflicting interpretations of pathogenicity 358017 rs188719640 6:76626257-76626257 6:75916540-75916540
31 MYO6 NM_004999.4(MYO6):c.*1627A>GSNV Conflicting interpretations of pathogenicity 358019 rs147347025 6:76626356-76626356 6:75916639-75916639
32 MYO6 NM_004999.4(MYO6):c.*3874G>ASNV Conflicting interpretations of pathogenicity 358050 rs187631847 6:76628603-76628603 6:75918886-75918886
33 MYO6 NM_004999.4(MYO6):c.*2716A>GSNV Conflicting interpretations of pathogenicity 358032 rs188568413 6:76627445-76627445 6:75917728-75917728
34 MYO6 NM_004999.4(MYO6):c.*4464C>TSNV Conflicting interpretations of pathogenicity 358062 rs79815348 6:76629193-76629193 6:75919476-75919476
35 MYO6 NM_004999.4(MYO6):c.647A>T (p.Glu216Val)SNV Conflicting interpretations of pathogenicity 8580 rs121912559 6:76550395-76550395 6:75840678-75840678
36 MYO6 NM_004999.4(MYO6):c.*4446A>GSNV Conflicting interpretations of pathogenicity 908252 6:76629175-76629175 6:75919458-75919458
37 MYO6 NM_004999.4(MYO6):c.553+10A>GSNV Conflicting interpretations of pathogenicity 909578 6:76545683-76545683 6:75835966-75835966
38 MYO6 NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)SNV Conflicting interpretations of pathogenicity 45132 rs199798449 6:76558200-76558200 6:75848483-75848483
39 MYO6 NM_004999.4(MYO6):c.1224-4A>GSNV Conflicting interpretations of pathogenicity 45136 rs144031818 6:76566810-76566810 6:75857093-75857093
40 MYO6 NM_004999.4(MYO6):c.1656G>A (p.Lys552=)SNV Conflicting interpretations of pathogenicity 45138 rs111033431 6:76572422-76572422 6:75862705-75862705
41 MYO6 NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)SNV Conflicting interpretations of pathogenicity 45144 rs55662069 6:76596587-76596587 6:75886870-75886870
42 MYO6 NM_004999.4(MYO6):c.2982G>A (p.Glu994=)SNV Conflicting interpretations of pathogenicity 45151 rs55905349 6:76602282-76602282 6:75892565-75892565
43 MYO6 NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)SNV Conflicting interpretations of pathogenicity 45153 rs202214380 6:76608128-76608128 6:75898411-75898411
44 MYO6 NM_004999.4(MYO6):c.*3288T>CSNV Conflicting interpretations of pathogenicity 910895 6:76628017-76628017 6:75918300-75918300
45 MYO6 NM_004999.4(MYO6):c.*1287T>ASNV Conflicting interpretations of pathogenicity 909888 6:76626016-76626016 6:75916299-75916299
46 MYO6 NM_004999.4(MYO6):c.*3039A>GSNV Conflicting interpretations of pathogenicity 910893 6:76627768-76627768 6:75918051-75918051
47 MYO6 NM_004999.4(MYO6):c.*3914T>CSNV Conflicting interpretations of pathogenicity 908181 6:76628643-76628643 6:75918926-75918926
48 MYO6 NM_004999.4(MYO6):c.189T>G (p.Cys63Trp)SNV Conflicting interpretations of pathogenicity 908721 6:76538258-76538258 6:75828541-75828541
49 MYO6 NM_004999.4(MYO6):c.3483G>A (p.Glu1161=)SNV Conflicting interpretations of pathogenicity 909766 6:76623823-76623823 6:75914106-75914106
50 MYO6 NM_004999.4(MYO6):c.*186A>GSNV Conflicting interpretations of pathogenicity 908966 6:76624915-76624915 6:75915198-75915198

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 37:

73
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Glu216Val VAR_016209 rs121912559

Expression for Deafness, Autosomal Recessive 37

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 37.

Pathways for Deafness, Autosomal Recessive 37

Pathways related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2
Show member pathways
13.12 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3
Show member pathways
12.99 PTPRQ MYO7A MYO6 MYO3A MYO1B MYO1A
4
Show member pathways
12.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
5
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
6
Show member pathways
12.53 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 11.99 MYO6 MYO1B MYO1A MYH14
8
Show member pathways
11.88 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 10.71 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

GO Terms for Deafness, Autosomal Recessive 37

Cellular components related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.21 TRIOBP RGS19 MYO7A MYO6 MYO3A MYO1B
2 cell GO:0005623 9.89 MYO7A MYO6 MYO1B MYO1A MYO15A
3 microvillus GO:0005902 9.67 MYO7A MYO6 MYO1B MYO1A
4 vesicle GO:0031982 9.65 MYO7A MYO6 MYO1B MYO1A MYO15A
5 filopodium GO:0030175 9.63 MYO6 MYO3A MYO1B
6 brush border GO:0005903 9.62 RGS19 MYO1B MYO1A MYH14
7 filamentous actin GO:0031941 9.58 MYO6 MYO3A MYO1A
8 stereocilium bundle GO:0032421 9.48 PTPRQ MYO15A
9 stereocilium GO:0032420 9.46 TPRN MYO7A MYO3A MYO15A
10 stereocilium base GO:0120044 9.43 TPRN MYO7A
11 actin cytoskeleton GO:0015629 9.43 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
12 myosin complex GO:0016459 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Biological processes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.63 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
2 inner ear morphogenesis GO:0042472 9.62 PTPRQ MYO7A MYO6 MYO15A
3 actin filament-based movement GO:0030048 9.56 MYO7A MYO6 MYO1B MYH14
4 auditory receptor cell stereocilium organization GO:0060088 9.54 TRIOBP TPRN MYO7A
5 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A MYO6
6 vesicle transport along actin filament GO:0030050 9.35 MYO7A MYO6 MYO1B MYO1A MYO15A
7 sensory perception of sound GO:0007605 9.23 TRIOBP TPRN MYO7A MYO6 MYO3A MYO1A

Molecular functions related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3 actin binding GO:0003779 9.92 TRIOBP MYO7A MYO6 MYO3A MYO1B MYO1A
4 actin filament binding GO:0051015 9.91 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
5 calmodulin binding GO:0005516 9.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
6 motor activity GO:0003774 9.7 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
8 actin-dependent ATPase activity GO:0030898 9.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 microfilament motor activity GO:0000146 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Sources for Deafness, Autosomal Recessive 37

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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