MCID: DFN250
MIFTS: 38

Deafness, Autosomal Recessive 2

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

Aliases & Classifications for Deafness, Autosomal Recessive 2

MalaCards integrated aliases for Deafness, Autosomal Recessive 2:

Name: Deafness, Autosomal Recessive 2 57 29 13 6 73
Dfnb2 57 12 75 55
Neurosensory Nonsyndromic Recessive Deafness 2 57 75
Autosomal Recessive Nonsyndromic Deafness 2 12 15
Nsrd2 57 75
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 75
Neurosensory Nonsyndromic Recessive Deafness 2; Nsrd2 57
Deafness Neurosensory Autosomal Recessive 2 75
Deafness, Autosomal Recessive, Type 2 40
Deafness, Autosomal Recessive, 2 75
Autosomal Recessive Deafness 2 12

Characteristics:

OMIM:

57
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:

32
deafness, autosomal recessive 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 600060
Disease Ontology 12 DOID:0110477
ICD10 33 H90.3
MedGen 42 C1838701
MeSH 44 D006319
UMLS 73 C1838701

Summaries for Deafness, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 75 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 nonsyndromic deafness, 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 32 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 Recessive 105 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 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 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 29.4 GJB2 MYO7A OTOF
2 nonsyndromic deafness 25.3 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
3 auditory neuropathy spectrum disorder 10.2 MYO7A OTOF
4 deafness, autosomal recessive 21 10.1 GJB2 TECTA
5 deafness, autosomal recessive 23 10.0 GJB2 MYO7A
6 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 MYO15A
7 deafness, autosomal recessive 59 10.0 GJB2 OTOF
8 deafness, autosomal recessive 12 10.0 GJB2 MYO7A
9 auditory neuropathy, autosomal dominant, 1 9.9 GJB2 OTOF
10 retinitis pigmentosa-deafness syndrome 9.9
11 usher syndrome 9.9
12 deafness, autosomal recessive 6 9.9 GJB2 MYO7A
13 deafness, autosomal recessive 1a 9.9 GJB2 OTOF
14 deafness, autosomal recessive 3 9.8 GJB2 MYO15A MYO7A
15 inner ear disease 9.8 GJB2 MYO7A
16 deafness, autosomal recessive 85 9.7 MYO15A MYO7A OTOF
17 deafness, autosomal recessive 83 9.7 MYO15A MYO7A OTOF
18 deafness, autosomal recessive 16 9.6 GJB2 MYO7A OTOF
19 deafness, autosomal recessive 9 9.6 GJB2 OTOF TECTA
20 deafness, autosomal dominant 11 9.6 MYO15A MYO6 MYO7A
21 deafness, autosomal recessive 26 9.6 GJB2 OTOF TECTA
22 deafness, autosomal dominant 6 9.6 GJB2 MYO7A OTOF
23 deafness, autosomal dominant 13 9.6 GJB2 MYO7A OTOF
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 MYO7A OTOF
25 autosomal recessive nonsyndromic deafness 9.5 GJB2 MYO15A OTOF
26 deafness, autosomal recessive 9.2 GJB2 MYO6 OTOF
27 trehalase deficiency 9.0 GJB2 MYO15A MYO7A
28 deafness, autosomal dominant 48 8.7 MYO15A MYO1A MYO6 MYO7A
29 deafness, autosomal dominant 22 8.7 MYO15A MYO1A MYO6 MYO7A
30 auditory system disease 8.7 GJB2 MYO15A MYO7A OTOF TECTA
31 deafness, autosomal recessive 37 8.7 MYO15A MYO1A MYO6 MYO7A
32 deafness, autosomal dominant 17 8.7 MYO15A MYO1A MYO6 MYO7A
33 sensorineural hearing loss 8.4 GJB2 MYO15A MYO6 MYO7A OTOF
34 non-syndromic genetic deafness 8.4 GJB2 MYO15A MYO6 OTOF TECTA
35 autosomal dominant non-syndromic sensorineural deafness type dfna 8.1 GJB2 MYO1A MYO6 MYO7A TECTA
36 deafness, autosomal recessive 30 8.1 GJB2 MYO15A MYO1A MYO6 MYO7A
37 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.0 GJB2 MYO15A MYO6 MYO7A OTOF TECTA
38 autosomal dominant nonsyndromic deafness 7.5 GJB2 MYO1A MYO6 MYO7A OTOF TECTA
39 autosomal recessive nonsyndromic deafness 3 7.0 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, prelingual
hearing loss affects all frequencies

Neurologic Central Nervous System:
vestibular dysfunction
vertigo


Clinical features from OMIM:

600060

Human phenotypes related to Deafness, Autosomal Recessive 2:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 vertigo 32 HP:0002321

UMLS symptoms related to Deafness, Autosomal Recessive 2:


vertigo

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 MYO7A OTOF TECTA GJB2 MYO15A MYO1A
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 29 MYO7A

Anatomical Context for Deafness, Autosomal Recessive 2

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

41
Brain

Publications for Deafness, Autosomal Recessive 2

Variations for Deafness, Autosomal Recessive 2

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

75
# 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 all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A MYO7A, 1-BP INS, EX28 insertion Pathogenic
2 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
3 MYO7A NM_000260.3(MYO7A): c.731G> C (p.Arg244Pro) single nucleotide variant Pathogenic rs121965081 GRCh37 Chromosome 11, 76868046: 76868046
4 MYO7A NM_000260.3(MYO7A): c.731G> C (p.Arg244Pro) single nucleotide variant Pathogenic rs121965081 GRCh38 Chromosome 11, 77157000: 77157000
5 MYO7A MYO7A, IVS3AS, A-G, -2 single nucleotide variant Pathogenic
6 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh38 Chromosome 11, 77166162: 77166162
7 MYO7A NM_000260.3(MYO7A): c.5146_5148delGAG (p.Glu1716del) deletion Pathogenic GRCh38 Chromosome 11, 77202402: 77202404
8 MYO7A NM_000260.3(MYO7A): c.5146_5148delGAG (p.Glu1716del) deletion Pathogenic GRCh37 Chromosome 11, 76913447: 76913449
9 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh37 Chromosome 11, 76871312: 76871312
10 MYO7A NM_000260.3(MYO7A): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs387906700 GRCh38 Chromosome 11, 77160266: 77160266
11 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
12 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh38 Chromosome 11, 77174825: 77174825
13 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
14 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh38 Chromosome 11, 77190710: 77190710
15 MYO7A NM_000260.3(MYO7A): c.397dupC (p.His133Profs) duplication Likely pathogenic rs111033187 GRCh37 Chromosome 11, 76867064: 76867064
16 MYO7A NM_000260.3(MYO7A): c.397dupC (p.His133Profs) duplication Likely pathogenic rs111033187 GRCh38 Chromosome 11, 77156018: 77156018
17 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh37 Chromosome 11, 76867955: 76867955
18 MYO7A NM_000260.3(MYO7A): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs111033283 GRCh38 Chromosome 11, 77156909: 77156909
19 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
20 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh38 Chromosome 11, 77208472: 77208472
21 MYO7A NM_000260.3(MYO7A): c.2476G> A (p.Ala826Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368341987 GRCh37 Chromosome 11, 76890889: 76890889
22 MYO7A NM_000260.3(MYO7A): c.2476G> A (p.Ala826Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368341987 GRCh38 Chromosome 11, 77179843: 77179843
23 MYO7A NM_001127180.1(MYO7A): c.1117C> T (p.Arg373Cys) single nucleotide variant Uncertain significance rs868979094 GRCh37 Chromosome 11, 76871245: 76871245
24 MYO7A NM_001127180.1(MYO7A): c.1117C> T (p.Arg373Cys) single nucleotide variant Uncertain significance rs868979094 GRCh38 Chromosome 11, 77160199: 77160199
25 MYO7A NM_000260.3(MYO7A): c.29T> C (p.Val10Ala) single nucleotide variant no interpretation for the single variant rs878853237 GRCh37 Chromosome 11, 76853765: 76853765
26 MYO7A NM_000260.3(MYO7A): c.29T> C (p.Val10Ala) single nucleotide variant no interpretation for the single variant rs878853237 GRCh38 Chromosome 11, 77142719: 77142719
27 MYO7A NM_000260.3(MYO7A): c.620A> G (p.Asn207Ser) single nucleotide variant Pathogenic rs878853235 GRCh38 Chromosome 11, 77156889: 77156889
28 MYO7A NM_000260.3(MYO7A): c.620A> G (p.Asn207Ser) single nucleotide variant Pathogenic rs878853235 GRCh37 Chromosome 11, 76867935: 76867935
29 MYO7A NM_000260.3(MYO7A): c.1969C> T (p.Arg657Trp) single nucleotide variant no interpretation for the single variant rs878853236 GRCh37 Chromosome 11, 76885835: 76885835
30 MYO7A NM_000260.3(MYO7A): c.1969C> T (p.Arg657Trp) single nucleotide variant no interpretation for the single variant rs878853236 GRCh38 Chromosome 11, 77174789: 77174789
31 MYO7A NM_000260.3(MYO7A): c.2323C> T (p.Gln775Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201892914 GRCh37 Chromosome 11, 76890131: 76890131
32 MYO7A NM_000260.3(MYO7A): c.2323C> T (p.Gln775Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201892914 GRCh38 Chromosome 11, 77179085: 77179085
33 MYO7A NM_000260.3(MYO7A): c.3262C> T (p.Gln1088Ter) single nucleotide variant Likely pathogenic rs376535635 GRCh37 Chromosome 11, 76893622: 76893622
34 MYO7A NM_000260.3(MYO7A): c.3262C> T (p.Gln1088Ter) single nucleotide variant Likely pathogenic rs376535635 GRCh38 Chromosome 11, 77182577: 77182577
35 MYO7A NM_000260.3(MYO7A): c.565_566delGT (p.Val189Leufs) deletion Pathogenic rs1060499651 GRCh38 Chromosome 11, 77156754: 77156755
36 MYO7A NM_000260.3(MYO7A): c.565_566delGT (p.Val189Leufs) deletion Pathogenic rs1060499651 GRCh37 Chromosome 11, 76867800: 76867801
37 MYO7A NM_000260.3(MYO7A): c.2307delC (p.Asn769Lysfs) deletion Pathogenic rs1060499800 GRCh38 Chromosome 11, 77179069: 77179069
38 MYO7A NM_000260.3(MYO7A): c.2307delC (p.Asn769Lysfs) deletion Pathogenic rs1060499800 GRCh37 Chromosome 11, 76890115: 76890115
39 MYO7A NM_001127180.1(MYO7A): c.4153-2A> G single nucleotide variant Pathogenic rs1060499803 GRCh38 Chromosome 11, 77194352: 77194352
40 MYO7A NM_001127180.1(MYO7A): c.4153-2A> G single nucleotide variant Pathogenic rs1060499803 GRCh37 Chromosome 11, 76905397: 76905397
41 MYO7A NM_000260.3(MYO7A): c.6196C> T (p.Gln2066Ter) single nucleotide variant Pathogenic rs1060499801 GRCh38 Chromosome 11, 77211296: 77211296
42 MYO7A NM_000260.3(MYO7A): c.6196C> T (p.Gln2066Ter) single nucleotide variant Pathogenic rs1060499801 GRCh37 Chromosome 11, 76922341: 76922341
43 MYO7A NM_000260.3(MYO7A): c.6211C> T (p.Gln2071Ter) single nucleotide variant Pathogenic rs1060499802 GRCh38 Chromosome 11, 77211311: 77211311
44 MYO7A NM_000260.3(MYO7A): c.6211C> T (p.Gln2071Ter) single nucleotide variant Pathogenic rs1060499802 GRCh37 Chromosome 11, 76922356: 76922356
45 MYO7A NM_000260.3(MYO7A): c.6487G> A (p.Gly2163Ser) single nucleotide variant Pathogenic rs747656448 GRCh38 Chromosome 11, 77213908: 77213908
46 MYO7A NM_000260.3(MYO7A): c.6487G> A (p.Gly2163Ser) single nucleotide variant Pathogenic rs747656448 GRCh37 Chromosome 11, 76924953: 76924953
47 MYO7A NM_000260.3(MYO7A): c.5945-9G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 77208688: 77208688
48 MYO7A NM_000260.3(MYO7A): c.5945-9G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 76919733: 76919733

Expression for Deafness, Autosomal Recessive 2

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

Pathways for Deafness, Autosomal Recessive 2

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 9.32 MYO15A MYO7A
2 inner ear development GO:0048839 9.26 GJB2 MYO7A
3 microtubule-based movement GO:0007018 9.26 MYO15A MYO1A MYO6 MYO7A
4 sensory perception of sound GO:0007605 9.17 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
5 actin filament-based movement GO:0030048 9.16 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 9.73 MYO15A MYO1A MYO6 MYO7A
2 actin binding GO:0003779 9.62 MYO15A MYO1A MYO6 MYO7A
3 microtubule binding GO:0008017 9.56 MYO15A MYO1A MYO6 MYO7A
4 actin filament binding GO:0051015 9.54 MYO1A MYO6 MYO7A
5 calmodulin binding GO:0005516 9.46 MYO15A MYO1A MYO6 MYO7A
6 ADP binding GO:0043531 9.4 MYO6 MYO7A
7 microtubule motor activity GO:0003777 9.26 MYO15A MYO1A MYO6 MYO7A
8 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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