DFNB9
MCID: DFN133
MIFTS: 33

Deafness, Autosomal Recessive 9 (DFNB9)

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

Aliases & Classifications for Deafness, Autosomal Recessive 9

MalaCards integrated aliases for Deafness, Autosomal Recessive 9:

Name: Deafness, Autosomal Recessive 9 57 29 6 73
Auditory Neuropathy, Autosomal Recessive, 1 57 75 29 13 6
Neurosensory Nonsyndromic Recessive Deafness 9 57 12 75
Dfnb9 57 12 75
Autosomal Recessive Nonsyndromic Deafness 9 12 15
Nsrd9 57 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 75
Neurosensory Nonsyndromic Recessive Deafness 9; Nsrd9 57
Nonsyndromic Auditory Neuropathy Autosomal Recessive 75
Deafness Neurosensory Autosomal Recessive 9 75
Auditory Neuropathy, Nonsyndromic Recessive 73
Non-Syndromic Recessive Hearing Loss 9 75
Deafness, Autosomal Recessive, Type 9 40
Deafness, Autosomal Recessive, 9 75
Autosomal Recessive Deafness 9 12
Nrsd9 12
Nsran 75
Aunb1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset or onset before 2 years (prelingual)
nonsyndromic disorder


HPO:

32
deafness, autosomal recessive 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601071
Disease Ontology 12 DOID:0110535
ICD10 33 H90.3
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002

Summaries for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot : 75 Auditory neuropathy, autosomal recessive, 1: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. Deafness, autosomal recessive, 9: 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 9, also known as auditory neuropathy, autosomal recessive, 1, is related to deafness, autosomal recessive 21 and otof-related deafness. An important gene associated with Deafness, Autosomal Recessive 9 is OTOF (Otoferlin). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and absent brainstem auditory responses

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material basis in mutation in the OTOF gene on chromosome 2p23.

Description from OMIM: 601071

Related Diseases for Deafness, Autosomal Recessive 9

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
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 105 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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 29.9 GJB2 TECTA
2 otof-related deafness 11.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 deafness, autosomal recessive 10.1 OTOF PJVK
5 auditory neuropathy spectrum disorder 10.0 OTOF PJVK
6 deafness, autosomal recessive 3 10.0
7 deafness, autosomal recessive 12 10.0
8 deafness, autosomal recessive 85 10.0 OTOF PJVK
9 deafness, autosomal recessive 83 10.0 OTOF PJVK
10 dysferlinopathy 10.0 MYOF OTOF
11 autosomal recessive nonsyndromic deafness 10.0 GJB2 OTOF
12 dfnb1 9.9 GJB2 OTOF
13 deafness, autosomal recessive 1a 9.9 GJB2 OTOF
14 deafness, autosomal recessive 16 9.9 GJB2 OTOF
15 deafness, autosomal dominant 6 9.8 GJB2 OTOF
16 deafness, autosomal recessive 67 9.8 GJB2 PJVK
17 deafness, autosomal dominant 13 9.8 GJB2 OTOF
18 deafness, autosomal recessive 59 9.8 GJB2 OTOF PJVK
19 auditory neuropathy, autosomal dominant, 1 9.8 GJB2 OTOF PJVK
20 deafness, autosomal recessive 2 9.8 GJB2 OTOF TECTA
21 deafness, autosomal recessive 26 9.7 GJB2 OTOF TECTA
22 sensorineural hearing loss 9.7 GJB2 OTOF TECTA
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 OTOF
24 autosomal recessive nonsyndromic deafness 3 9.6 GJB2 OTOF PJVK TECTA
25 nonsyndromic deafness 9.6 GJB2 OTOF PJVK TECTA
26 branchiootic syndrome 1 9.6 GJB2 OTOF PJVK TECTA
27 auditory system disease 9.6 GJB2 OTOF PJVK TECTA
28 autosomal dominant nonsyndromic deafness 9.6 GJB2 OTOF PJVK TECTA
29 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 OTOF PJVK TECTA
30 non-syndromic genetic deafness 9.6 GJB2 OTOF PJVK TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 9:



Diseases related to Deafness, Autosomal Recessive 9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 9

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
deafness, sensorineural

Head And Neck Ears:
deafness, sensorineural (severe to profound)
no auditory brainstem response (abr)
absence of acoustic middle ear muscle reflexes
u- or bowl-shaped audiogram
normal otoacoustic emissions (oae), indicating intact outer ear hair cell function
more

Clinical features from OMIM:

601071

Human phenotypes related to Deafness, Autosomal Recessive 9:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 absent brainstem auditory responses 32 HP:0004463
3 absence of acoustic reflex 32 HP:0008529

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 GJB2 OTOF PJVK TECTA
2 nervous system MP:0003631 9.02 GJB2 OTOF PJVK RAI1 TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 9

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 9

Genetic Tests for Deafness, Autosomal Recessive 9

Genetic tests related to Deafness, Autosomal Recessive 9:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 9 29 OTOF
2 Auditory Neuropathy, Autosomal Recessive, 1 29

Anatomical Context for Deafness, Autosomal Recessive 9

MalaCards organs/tissues related to Deafness, Autosomal Recessive 9:

41
Brain

Publications for Deafness, Autosomal Recessive 9

Variations for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 9:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 OTOF p.Pro490Gln VAR_032228 rs80356585
2 OTOF p.Ile515Thr VAR_032229 rs80356586
3 OTOF p.Arg794His VAR_032232 rs80356592
4 OTOF p.Leu1011Pro VAR_032234 rs80356596
5 OTOF p.Arg1157Gln VAR_032236 rs56054534
6 OTOF p.Pro1825Ala VAR_032239 rs28937591
7 OTOF p.Arg1939Gln VAR_032241 rs80356605
8 OTOF p.Pro1987Arg VAR_032242 rs80356606
9 OTOF p.Gln255His VAR_046003 rs397515611
10 OTOF p.Ala964Glu VAR_046004 rs201329629
11 OTOF p.Leu1138Pro VAR_046005 rs397515599
12 OTOF p.Phe1795Cys VAR_046008 rs397515606

ClinVar genetic disease variations for Deafness, Autosomal Recessive 9:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
2 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh38 Chromosome 2, 26466723: 26466723
3 OTOF NM_194248.2(OTOF): c.766-2A> G single nucleotide variant Pathogenic rs80356584 GRCh37 Chromosome 2, 26717943: 26717943
4 OTOF NM_194248.2(OTOF): c.766-2A> G single nucleotide variant Pathogenic rs80356584 GRCh38 Chromosome 2, 26495075: 26495075
5 OTOF OTOF, IVS5, G-A, +1 single nucleotide variant Pathogenic
6 OTOF NM_194248.2(OTOF): c.5816G> A (p.Arg1939Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs80356605 GRCh37 Chromosome 2, 26683071: 26683071
7 OTOF NM_194248.2(OTOF): c.5816G> A (p.Arg1939Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs80356605 GRCh38 Chromosome 2, 26460203: 26460203
8 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
9 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh38 Chromosome 2, 26477210: 26477210
10 OTOF NM_194248.2(OTOF): c.5473C> G (p.Pro1825Ala) single nucleotide variant Pathogenic rs28937591 GRCh37 Chromosome 2, 26684624: 26684624
11 OTOF NM_194248.2(OTOF): c.5473C> G (p.Pro1825Ala) single nucleotide variant Pathogenic rs28937591 GRCh38 Chromosome 2, 26461756: 26461756
12 OTOF OTOF, 1-BP DEL, 1778G deletion Pathogenic
13 OTOF NM_194248.2(OTOF): c.4960+1G> C single nucleotide variant Pathogenic rs80356602 GRCh37 Chromosome 2, 26687736: 26687736
14 OTOF NM_194248.2(OTOF): c.4960+1G> C single nucleotide variant Pathogenic rs80356602 GRCh38 Chromosome 2, 26464868: 26464868
15 OTOF NM_194323.2(OTOF): c.3659C> G (p.Pro1220Arg) single nucleotide variant Pathogenic rs121908598 GRCh37 Chromosome 2, 26680942: 26680942
16 OTOF NM_194323.2(OTOF): c.3659C> G (p.Pro1220Arg) single nucleotide variant Pathogenic rs121908598 GRCh38 Chromosome 2, 26458074: 26458074
17 OTOF NM_194248.2(OTOF): c.3032T> C (p.Leu1011Pro) single nucleotide variant Pathogenic rs80356596 GRCh37 Chromosome 2, 26698321: 26698321
18 OTOF NM_194248.2(OTOF): c.3032T> C (p.Leu1011Pro) single nucleotide variant Pathogenic rs80356596 GRCh38 Chromosome 2, 26475453: 26475453
19 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh37 Chromosome 2, 26705309: 26705309
20 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh38 Chromosome 2, 26482441: 26482441
21 OTOF NM_194248.2(OTOF): c.1469C> A (p.Pro490Gln) single nucleotide variant Pathogenic rs80356585 GRCh37 Chromosome 2, 26705384: 26705384
22 OTOF NM_194248.2(OTOF): c.1469C> A (p.Pro490Gln) single nucleotide variant Pathogenic rs80356585 GRCh38 Chromosome 2, 26482516: 26482516
23 OTOF NM_194248.2(OTOF): c.158C> T (p.Ala53Val) single nucleotide variant Benign/Likely benign rs1879761 GRCh37 Chromosome 2, 26750769: 26750769
24 OTOF NM_194248.2(OTOF): c.158C> T (p.Ala53Val) single nucleotide variant Benign/Likely benign rs1879761 GRCh38 Chromosome 2, 26527901: 26527901
25 OTOF NM_194248.2(OTOF): c.1651delG (p.Glu551Serfs) deletion Pathogenic rs80356587 GRCh37 Chromosome 2, 26703806: 26703806
26 OTOF NM_194248.2(OTOF): c.1651delG (p.Glu551Serfs) deletion Pathogenic rs80356587 GRCh38 Chromosome 2, 26480938: 26480938
27 OTOF NM_194248.2(OTOF): c.1723G> A (p.Val575Met) single nucleotide variant Benign rs55676840 GRCh37 Chromosome 2, 26703734: 26703734
28 OTOF NM_194248.2(OTOF): c.1723G> A (p.Val575Met) single nucleotide variant Benign rs55676840 GRCh38 Chromosome 2, 26480866: 26480866
29 OTOF NM_194248.2(OTOF): c.1886dupA (p.Pro630Alafs) duplication Pathogenic rs80356588 GRCh37 Chromosome 2, 26703097: 26703097
30 OTOF NM_194248.2(OTOF): c.1886dupA (p.Pro630Alafs) duplication Pathogenic rs80356588 GRCh38 Chromosome 2, 26480229: 26480229
31 OTOF NM_194248.2(OTOF): c.1926C> T (p.Asn642=) single nucleotide variant Benign rs72853741 GRCh37 Chromosome 2, 26702508: 26702508
32 OTOF NM_194248.2(OTOF): c.1926C> T (p.Asn642=) single nucleotide variant Benign rs72853741 GRCh38 Chromosome 2, 26479640: 26479640
33 OTOF NM_194248.2(OTOF): c.2022C> T (p.Asp674=) single nucleotide variant Benign/Likely benign rs13004993 GRCh37 Chromosome 2, 26702412: 26702412
34 OTOF NM_194248.2(OTOF): c.2022C> T (p.Asp674=) single nucleotide variant Benign/Likely benign rs13004993 GRCh38 Chromosome 2, 26479544: 26479544
35 OTOF NM_194248.2(OTOF): c.2025G> A (p.Glu675=) single nucleotide variant Benign/Likely benign rs61746988 GRCh37 Chromosome 2, 26702409: 26702409
36 OTOF NM_194248.2(OTOF): c.2025G> A (p.Glu675=) single nucleotide variant Benign/Likely benign rs61746988 GRCh38 Chromosome 2, 26479541: 26479541
37 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
38 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh38 Chromosome 2, 26479356: 26479356
39 OTOF NM_194248.2(OTOF): c.2214+1G> T single nucleotide variant Pathogenic rs80356589 GRCh37 Chromosome 2, 26702131: 26702131
40 OTOF NM_194248.2(OTOF): c.2214+1G> T single nucleotide variant Pathogenic rs80356589 GRCh38 Chromosome 2, 26479263: 26479263
41 OTOF NM_194248.2(OTOF): c.2317C> T (p.Arg773Cys) single nucleotide variant Benign/Likely benign rs80356569 GRCh37 Chromosome 2, 26700373: 26700373
42 OTOF NM_194248.2(OTOF): c.2317C> T (p.Arg773Cys) single nucleotide variant Benign/Likely benign rs80356569 GRCh38 Chromosome 2, 26477505: 26477505
43 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
44 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh38 Chromosome 2, 26477474: 26477474
45 OTOF NM_194248.2(OTOF): c.2381G> A (p.Arg794His) single nucleotide variant Likely benign rs80356592 GRCh37 Chromosome 2, 26700309: 26700309
46 OTOF NM_194248.2(OTOF): c.2381G> A (p.Arg794His) single nucleotide variant Likely benign rs80356592 GRCh38 Chromosome 2, 26477441: 26477441
47 OTOF NM_194248.2(OTOF): c.244C> T (p.Arg82Cys) single nucleotide variant Benign/Likely benign rs13031859 GRCh37 Chromosome 2, 26741961: 26741961
48 OTOF NM_194248.2(OTOF): c.244C> T (p.Arg82Cys) single nucleotide variant Benign/Likely benign rs13031859 GRCh38 Chromosome 2, 26519093: 26519093
49 OTOF NM_194248.2(OTOF): c.2464C> T (p.Arg822Trp) single nucleotide variant Benign/Likely benign rs80356570 GRCh37 Chromosome 2, 26700099: 26700099
50 OTOF NM_194248.2(OTOF): c.2464C> T (p.Arg822Trp) single nucleotide variant Benign/Likely benign rs80356570 GRCh38 Chromosome 2, 26477231: 26477231

Expression for Deafness, Autosomal Recessive 9

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 9.

Pathways for Deafness, Autosomal Recessive 9

GO Terms for Deafness, Autosomal Recessive 9

Biological processes related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.92 GJB2 OTOF PJVK TECTA

Sources for Deafness, Autosomal Recessive 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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