DFNB2
MCID: DFN250
MIFTS: 42

Deafness, Autosomal Recessive 2 (DFNB2)

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

Aliases & Classifications for Deafness, Autosomal Recessive 2

MalaCards integrated aliases for Deafness, Autosomal Recessive 2:

Name: Deafness, Autosomal Recessive 2 58 30 13 6 74
Dfnb2 58 12 76 56
Neurosensory Nonsyndromic Recessive Deafness 2 58 76
Autosomal Recessive Nonsyndromic Deafness 2 12 15
Nsrd2 58 76
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 76
Neurosensory Nonsyndromic Recessive Deafness 2; Nsrd2 58
Deafness Neurosensory Autosomal Recessive 2 76
Deafness, Autosomal Recessive, Type 2 41
Deafness, Autosomal Recessive, 2 76
Autosomal Recessive Deafness 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset usually at birth, but may occur later
allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, ) and usher syndrome type ib


HPO:

33
deafness, autosomal recessive 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110477
OMIM 58 600060
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1838701
UMLS 74 C1838701

Summaries for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 2: 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 2, also known as dfnb2, is related to dfnb1 and deafness, autosomal dominant 11, and has symptoms including vertigo An important gene associated with Deafness, Autosomal Recessive 2 is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and vertigo

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the MYO7A gene on chromosome 11q13.

Description from OMIM: 600060

Related Diseases for Deafness, Autosomal Recessive 2

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 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 dfnb1 29.8 GJB2 MYO7A OTOF
2 deafness, autosomal dominant 11 29.8 MYO15A MYO6 MYO7A
3 nonsyndromic deafness 27.9 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
4 usher syndrome, type i 10.2
5 auditory neuropathy spectrum disorder 10.1 MYO7A OTOF
6 deafness, autosomal recessive 21 10.1 GJB2 TECTA
7 retinitis pigmentosa-deafness syndrome 10.0
8 usher syndrome 10.0
9 deafness, autosomal recessive 23 10.0 GJB2 MYO7A
10 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 MYO15A
11 deafness, autosomal recessive 59 10.0 GJB2 OTOF
12 deafness, autosomal recessive 12 10.0 GJB2 MYO7A
13 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 OTOF
14 deafness, autosomal recessive 6 9.9 GJB2 MYO7A
15 deafness, autosomal recessive 1a 9.9 GJB2 OTOF
16 usher syndrome, type ic 9.9 MYO15A MYO7A
17 deafness, autosomal recessive 3 9.9 GJB2 MYO15A MYO7A
18 deafness, autosomal recessive 85 9.9 MYO15A MYO7A OTOF
19 deafness, autosomal recessive 83 9.9 MYO15A MYO7A OTOF
20 autosomal recessive nonsyndromic deafness 9.8 GJB2 MYO15A OTOF
21 autosomal dominant nonsyndromic deafness 9.8 MYO6 MYO7A TECTA
22 deafness, autosomal recessive 9 9.8 GJB2 OTOF TECTA
23 deafness, autosomal recessive 16 9.8 GJB2 MYO7A OTOF
24 deafness, autosomal dominant 6 9.8 GJB2 MYO7A OTOF
25 deafness, autosomal dominant 13 9.8 GJB2 MYO7A OTOF
26 deafness, autosomal recessive 26 9.8 GJB2 OTOF TECTA
27 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB2 MYO7A OTOF
28 inner ear disease 9.8 GJB2 MYO7A
29 branchiootic syndrome 1 9.6 GJB2 MYO7A OTOF TECTA
30 deafness, autosomal dominant 48 9.4 MYO15A MYO1A MYO6 MYO7A
31 auditory system disease 9.4 GJB2 MYO15A MYO7A OTOF TECTA
32 deafness, autosomal dominant 22 9.4 MYO15A MYO1A MYO6 MYO7A
33 deafness, autosomal recessive 37 9.4 MYO15A MYO1A MYO6 MYO7A
34 deafness, autosomal dominant 17 9.3 MYO15A MYO1A MYO6 MYO7A
35 non-syndromic genetic deafness 9.2 GJB2 MYO15A MYO6 OTOF TECTA
36 deafness, autosomal recessive 30 9.1 GJB2 MYO15A MYO1A MYO6 MYO7A
37 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
38 sensorineural hearing loss 9.0 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
39 autosomal recessive nonsyndromic deafness 3 8.5 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 2:



Diseases related to Deafness, Autosomal Recessive 2

Symptoms & Phenotypes for Deafness, Autosomal Recessive 2

Human phenotypes related to Deafness, Autosomal Recessive 2:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 vertigo 33 HP:0002321

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
vertigo
vestibular dysfunction

Head And Neck Ears:
hearing loss, sensorineural, prelingual
hearing loss affects all frequencies

Clinical features from OMIM:

600060

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
2 nervous system MP:0003631 9.43 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
3 no phenotypic analysis MP:0003012 8.92 GJB2 MYO7A OTOF TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 2

Genetic Tests for Deafness, Autosomal Recessive 2

Genetic tests related to Deafness, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 2 30 MYO7A

Anatomical Context for Deafness, Autosomal Recessive 2

MalaCards organs/tissues related to Deafness, Autosomal Recessive 2:

42
Brain

Publications for Deafness, Autosomal Recessive 2

Articles related to Deafness, Autosomal Recessive 2:

(show all 15)
# Title Authors Year
1
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. ( 24194196 )
2014
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602 )
2014
3
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
4
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. ( 20132242 )
2010
5
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ( 19375528 )
2009
6
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. ( 18181211 )
2008
7
Searching for evidence of DFNB2. ( 11992483 )
2002
8
The clinical presentation of DFNB2. ( 12408073 )
2002
9
From DFNB2 to Usher syndrome: variable expressivity of the same disease. ( 11391666 )
2001
10
Sensorineural hearing impairment: non-syndromic, recessive DFNB2. ( 10868224 )
2000
11
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. ( 15945170 )
1997
12
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. ( 9171833 )
1997
13
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. ( 9171832 )
1997
14
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. ( 8776602 )
1996
15
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. ( 7951250 )
1994

Variations for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 2:

76
# Symbol AA change Variation ID SNP ID
1 MYO7A p.Arg244Pro VAR_009323 rs121965081
2 MYO7A p.Met599Ile VAR_009330 rs121965082
3 MYO7A p.Cys652Arg VAR_079504

ClinVar genetic disease variations for Deafness, Autosomal Recessive 2:

6 (show top 50) (show all 555)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh37 Chromosome 11, 76868015: 76868015
2 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh38 Chromosome 11, 77156969: 77156969
3 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic/Likely pathogenic rs28934610 GRCh37 Chromosome 11, 76867950: 76867950
4 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic/Likely pathogenic rs28934610 GRCh38 Chromosome 11, 77156904: 77156904
5 MYO7A NM_000260.3(MYO7A): c.731G> C (p.Arg244Pro) single nucleotide variant Pathogenic rs121965081 GRCh37 Chromosome 11, 76868046: 76868046
6 MYO7A NM_000260.3(MYO7A): c.731G> C (p.Arg244Pro) single nucleotide variant Pathogenic rs121965081 GRCh38 Chromosome 11, 77157000: 77157000
7 MYO7A MYO7A, 1-BP INS, EX28 insertion Pathogenic
8 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
9 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh38 Chromosome 11, 77166162: 77166162
10 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh37 Chromosome 11, 76853829: 76853829
11 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh38 Chromosome 11, 77142783: 77142783
12 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh37 Chromosome 11, 76885862: 76885862
13 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh38 Chromosome 11, 77174816: 77174816
14 MYO7A NM_000260.3(MYO7A): c.5146_5148delGAG (p.Glu1716del) deletion Pathogenic rs1555102843 GRCh38 Chromosome 11, 77202402: 77202404
15 MYO7A NM_000260.3(MYO7A): c.5146_5148delGAG (p.Glu1716del) deletion Pathogenic rs1555102843 GRCh37 Chromosome 11, 76913447: 76913449
16 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh37 Chromosome 11, 76871312: 76871312
17 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh38 Chromosome 11, 77160266: 77160266
18 MYO7A NM_000260.3(MYO7A): c.5559C> T (p.His1853=) single nucleotide variant Likely benign rs373612656 GRCh37 Chromosome 11, 76916585: 76916585
19 MYO7A NM_000260.3(MYO7A): c.2187+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111033290 GRCh37 Chromosome 11, 76886511: 76886511
20 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh37 Chromosome 11, 76871225: 76871225
21 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh38 Chromosome 11, 77160179: 77160179
22 MYO7A NM_000260.4(MYO7A): c.1007G> A (p.Arg336His) single nucleotide variant Uncertain significance rs45629132 GRCh37 Chromosome 11, 76870496: 76870496
23 MYO7A NM_000260.4(MYO7A): c.1007G> A (p.Arg336His) single nucleotide variant Uncertain significance rs45629132 GRCh38 Chromosome 11, 77159450: 77159450
24 MYO7A NM_000260.3(MYO7A): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs199818783 GRCh37 Chromosome 11, 76871260: 76871260
25 MYO7A NM_000260.3(MYO7A): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs199818783 GRCh38 Chromosome 11, 77160214: 77160214
26 MYO7A NM_000260.3(MYO7A): c.1133G> A (p.Arg378His) single nucleotide variant Uncertain significance rs397516282 GRCh37 Chromosome 11, 76871261: 76871261
27 MYO7A NM_000260.3(MYO7A): c.1133G> A (p.Arg378His) single nucleotide variant Uncertain significance rs397516282 GRCh38 Chromosome 11, 77160215: 77160215
28 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516283 GRCh37 Chromosome 11, 76871329: 76871329
29 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516283 GRCh38 Chromosome 11, 77160283: 77160283
30 MYO7A NM_000260.3(MYO7A): c.1232T> C (p.Val411Ala) single nucleotide variant Uncertain significance rs369916141 GRCh37 Chromosome 11, 76872050: 76872050
31 MYO7A NM_000260.3(MYO7A): c.1232T> C (p.Val411Ala) single nucleotide variant Uncertain significance rs369916141 GRCh38 Chromosome 11, 77161004: 77161004
32 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh37 Chromosome 11, 76873164: 76873164
33 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh38 Chromosome 11, 77162118: 77162118
34 MYO7A NM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln) insertion Uncertain significance rs111033219 GRCh37 Chromosome 11, 76873223: 76873225
35 MYO7A NM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln) insertion Uncertain significance rs111033219 GRCh38 Chromosome 11, 77162177: 77162179
36 MYO7A NM_000260.3(MYO7A): c.1496T> C (p.Ile499Thr) single nucleotide variant Uncertain significance rs397516286 GRCh37 Chromosome 11, 76873318: 76873318
37 MYO7A NM_000260.3(MYO7A): c.1496T> C (p.Ile499Thr) single nucleotide variant Uncertain significance rs397516286 GRCh38 Chromosome 11, 77162272: 77162272
38 MYO7A NM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900
39 MYO7A NM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033206 GRCh38 Chromosome 11, 77162854: 77162854
40 MYO7A NM_000260.3(MYO7A): c.1721A> C (p.His574Pro) single nucleotide variant Uncertain significance rs397516287 GRCh37 Chromosome 11, 76877132: 76877132
41 MYO7A NM_000260.3(MYO7A): c.1721A> C (p.His574Pro) single nucleotide variant Uncertain significance rs397516287 GRCh38 Chromosome 11, 77166086: 77166086
42 MYO7A NM_000260.3(MYO7A): c.182C> G (p.Pro61Arg) single nucleotide variant Uncertain significance rs397516289 GRCh37 Chromosome 11, 76858893: 76858893
43 MYO7A NM_000260.3(MYO7A): c.182C> G (p.Pro61Arg) single nucleotide variant Uncertain significance rs397516289 GRCh38 Chromosome 11, 77147847: 77147847
44 MYO7A NM_000260.3(MYO7A): c.1846C> T (p.Arg616Trp) single nucleotide variant Uncertain significance rs369195493 GRCh37 Chromosome 11, 76883842: 76883842
45 MYO7A NM_000260.3(MYO7A): c.1846C> T (p.Arg616Trp) single nucleotide variant Uncertain significance rs369195493 GRCh38 Chromosome 11, 77172796: 77172796
46 MYO7A NM_000260.3(MYO7A): c.1868G> A (p.Arg623His) single nucleotide variant Likely benign rs111033416 GRCh37 Chromosome 11, 76883864: 76883864
47 MYO7A NM_000260.3(MYO7A): c.1868G> A (p.Arg623His) single nucleotide variant Likely benign rs111033416 GRCh38 Chromosome 11, 77172818: 77172818
48 MYO7A NM_000260.3(MYO7A): c.19-1G> A single nucleotide variant Likely pathogenic rs111033426 GRCh37 Chromosome 11, 76853754: 76853754
49 MYO7A NM_000260.3(MYO7A): c.19-1G> A single nucleotide variant Likely pathogenic rs111033426 GRCh38 Chromosome 11, 77142708: 77142708
50 MYO7A NM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter) single nucleotide variant Pathogenic rs111033180 GRCh37 Chromosome 11, 76883896: 76883896

Expression for Deafness, Autosomal Recessive 2

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 2.

Pathways for Deafness, Autosomal Recessive 2

Pathways related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 MYO15A MYO1A MYO6 MYO7A
2
Show member pathways
12.8 MYO15A MYO1A MYO6 MYO7A
3
Show member pathways
12.59 MYO15A MYO1A MYO6 MYO7A
4
Show member pathways
12.5 MYO15A MYO1A MYO6 MYO7A
5
Show member pathways
12.41 MYO15A MYO1A MYO6 MYO7A
6
Show member pathways
11.84 MYO15A MYO1A MYO6 MYO7A
7
Show member pathways
11.66 MYO15A MYO1A MYO6 MYO7A
8
Show member pathways
11.47 GJB2 MYO6
9 10.8 MYO15A MYO1A MYO6 MYO7A
10 10.07 MYO15A MYO1A MYO6 MYO7A

GO Terms for Deafness, Autosomal Recessive 2

Cellular components related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.32 GJB2 MYO1A
2 stereocilium GO:0032420 9.26 MYO15A MYO7A
3 filamentous actin GO:0031941 9.16 MYO1A MYO6
4 microvillus GO:0005902 9.13 MYO1A MYO6 MYO7A
5 myosin complex GO:0016459 8.92 MYO15A MYO1A MYO6 MYO7A

Biological processes related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.26 MYO15A MYO7A
2 sensory perception of sound GO:0007605 9.17 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
3 inner ear development GO:0048839 9.16 GJB2 MYO7A
4 actin filament-based movement GO:0030048 8.96 MYO6 MYO7A

Molecular functions related to Deafness, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.67 MYO15A MYO1A MYO6 MYO7A
2 actin binding GO:0003779 9.46 MYO15A MYO1A MYO6 MYO7A
3 actin filament binding GO:0051015 9.43 MYO1A MYO6 MYO7A
4 ADP binding GO:0043531 9.32 MYO6 MYO7A
5 calmodulin binding GO:0005516 9.26 MYO15A MYO1A MYO6 MYO7A
6 motor activity GO:0003774 8.92 MYO15A MYO1A MYO6 MYO7A

Sources for Deafness, Autosomal Recessive 2

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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