DFNB9
MCID: OTF001
MIFTS: 23

Otof-Related Deafness (DFNB9)

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

Aliases & Classifications for Otof-Related Deafness

MalaCards integrated aliases for Otof-Related Deafness:

Name: Otof-Related Deafness 25 6
Deafness, Autosomal Recessive 9 70
Dfnb9 Nonsyndromic Hearing Loss 25
Dfnb9 25

Classifications:



External Ids:

UMLS 70 C1832828

Summaries for Otof-Related Deafness

MalaCards based summary : Otof-Related Deafness, also known as deafness, autosomal recessive 9, is related to deafness, autosomal recessive 9 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Otof-Related Deafness is OTOF (Otoferlin).

GeneReviews: NBK1251

Related Diseases for Otof-Related Deafness

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

Diseases related to Otof-Related Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 9 31.3 RAI1 OTOF
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.4 RAI1 OTOF
3 branchiootic syndrome 1 10.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 auditory neuropathy spectrum disorder 10.1
6 rare genetic deafness 10.1
7 deafness, autosomal recessive 3 9.9
8 deafness, autosomal recessive 12 9.9
9 deafness, autosomal recessive 21 9.9
10 autosomal recessive nonsyndromic deafness 3 9.9
11 nonsyndromic hearing loss 9.9

Graphical network of the top 20 diseases related to Otof-Related Deafness:



Diseases related to Otof-Related Deafness

Symptoms & Phenotypes for Otof-Related Deafness

Drugs & Therapeutics for Otof-Related Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9 Recruiting NCT04202185

Search NIH Clinical Center for Otof-Related Deafness

Genetic Tests for Otof-Related Deafness

Anatomical Context for Otof-Related Deafness

Publications for Otof-Related Deafness

Articles related to Otof-Related Deafness:

(show top 50) (show all 51)
# Title Authors PMID Year
1
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. 6 25
22575033 2012
2
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. 6 25
20504331 2010
3
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! 6 25
20230791 2010
4
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. 6 25
20224275 2010
5
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. 6 25
18381613 2008
6
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 25 6
16371502 2006
7
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. 6 25
12114484 2002
8
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 6 25
10192385 1999
9
Transient deafness due to temperature-sensitive auditory neuropathy. 25 6
9657592 1998
10
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 6
29048421 2018
11
Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients. 6
28766844 2018
12
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. 6
27766948 2016
13
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. 6
27018795 2016
14
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 6
27082237 2016
15
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations. 6
24814232 2014
16
Evidence for genotype-phenotype correlation for OTOF mutations. 6
24746455 2014
17
Genetic characteristics in children with cochlear implants and the corresponding auditory performance. 6
21557232 2011
18
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. 6
21935370 2011
19
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). 6
14635104 2003
20
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 6
12127154 2002
21
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. 6
10903124 2000
22
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 6
10878664 2000
23
Cochlear Implantation Outcomes in Patients With OTOF Mutations. 25
32508568 2020
24
Auditory Neuropathy: Bridging the Gap Between Hearing Aids and Cochlear Implants. 25
30765091 2019
25
Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model. 25
30782832 2019
26
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds. 25
29688962 2019
27
A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice. 25
30509897 2019
28
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. 25
31095577 2019
29
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. 25
30482216 2018
30
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. 25
30245029 2018
31
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. 25
29111973 2017
32
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
33
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
34
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants. 25
27729456 2016
35
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. 25
26818607 2016
36
Temperature sensitive auditory neuropathy. 25
26778470 2016
37
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 25
26969326 2016
38
Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications. 25
26632695 2015
39
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25
25986071 2015
40
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. 25
23897863 2013
41
Hearing loss in Muckle-Wells syndrome. 25
23440695 2013
42
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. 25
20667140 2010
43
Five new OTOF gene mutations and auditory neuropathy. 25
20211493 2010
44
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. 25
19250381 2009
45
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. 25
18758381 2008
46
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 25
17329413 2007
47
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. 25
17055430 2006
48
Auditory neuropathy characteristics in children with cochlear nerve deficiency. 25
16825889 2006
49
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 25
16804542 2006
50
Sensorineural hearing loss in children. 25
15752533 2005

Variations for Otof-Related Deafness

ClinVar genetic disease variations for Otof-Related Deafness:

6 (show top 50) (show all 324)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTOF NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) Microsatellite association 179828 rs397515597 GRCh37: 2:26698795-26698796
GRCh38: 2:26475927-26475928
2 OTOF NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) SNV association 48240 rs111033405 GRCh37: 2:26688621-26688621
GRCh38: 2:26465753-26465753
3 OTOF NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) SNV association 65806 rs397515603 GRCh37: 2:26687878-26687878
GRCh38: 2:26465010-26465010
4 OTOF NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) Microsatellite association 65810 rs397515607 GRCh37: 2:26684685-26684687
GRCh38: 2:26461817-26461819
5 OTOF NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) Duplication association 208019 rs797044816 GRCh37: 2:26689614-26689615
GRCh38: 2:26466746-26466747
6 OTOF NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) SNV Pathogenic, association 6137 rs80356593 GRCh37: 2:26700078-26700078
GRCh38: 2:26477210-26477210
7 OTOF NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) SNV Pathogenic, association 6143 rs80356586 GRCh37: 2:26705309-26705309
GRCh38: 2:26482441-26482441
8 OTOF NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) SNV Pathogenic 21831 rs80356590 GRCh37: 2:26702224-26702224
GRCh38: 2:26479356-26479356
9 OTOF NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) SNV Pathogenic 48253 rs199766465 GRCh37: 2:26686837-26686837
GRCh38: 2:26463969-26463969
10 OTOF NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) SNV Pathogenic 402270 rs781688103 GRCh37: 2:26688592-26688592
GRCh38: 2:26465724-26465724
11 OTOF NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) SNV Pathogenic 402271 rs1060499805 GRCh37: 2:26691336-26691336
GRCh38: 2:26468468-26468468
12 OTOF NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) SNV Pathogenic 65804 rs147321712 GRCh37: 2:26689599-26689599
GRCh38: 2:26466731-26466731
13 OTOF NM_194248.3(OTOF):c.227+1G>C SNV Pathogenic 1031782 GRCh37: 2:26750699-26750699
GRCh38: 2:26527831-26527831
14 OTOF NM_194248.3(OTOF):c.3965_3966insGGGA (p.Asp1322fs) Insertion Pathogenic 1031783 GRCh37: 2:26693518-26693519
GRCh38: 2:26470650-26470651
15 OTOF NM_194248.3(OTOF):c.5093del (p.Gly1698fs) Deletion Pathogenic 1031784 GRCh37: 2:26686842-26686842
GRCh38: 2:26463974-26463974
16 OTOF NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter) SNV Pathogenic 1031785 GRCh37: 2:26685046-26685046
GRCh38: 2:26462178-26462178
17 OTOF NM_194248.3(OTOF):c.2348del (p.Gly783fs) Deletion Pathogenic 21834 rs80356591 GRCh37: 2:26700342-26700342
GRCh38: 2:26477474-26477474
18 OTOF NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) SNV Pathogenic 65805 rs143939430 GRCh37: 2:26687888-26687888
GRCh38: 2:26465020-26465020
19 OTOF NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) SNV Pathogenic 65808 rs397515605 GRCh37: 2:26685045-26685045
GRCh38: 2:26462177-26462177
20 OTOF NM_194248.3(OTOF):c.*19C>T SNV Pathogenic 562079 rs530821443 GRCh37: 2:26681087-26681087
GRCh38: 2:26458219-26458219
21 OTOF NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) SNV Pathogenic 562082 rs1558488902 GRCh37: 2:26703079-26703079
GRCh38: 2:26480211-26480211
22 OTOF NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) SNV Pathogenic 562085 rs1558464965 GRCh37: 2:26683614-26683614
GRCh38: 2:26460746-26460746
23 OTOF NM_194248.3(OTOF):c.2443del (p.Gln815fs) Deletion Pathogenic 634820 rs1558485249 GRCh37: 2:26700120-26700120
GRCh38: 2:26477252-26477252
24 OTOF NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) SNV Pathogenic 6133 rs80356600 GRCh37: 2:26689591-26689591
GRCh38: 2:26466723-26466723
25 OTOF NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) SNV Pathogenic 65813 rs368790049 GRCh37: 2:26683072-26683072
GRCh38: 2:26460204-26460204
26 RAI1 NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) SNV Pathogenic 212012 rs755572135 GRCh37: 17:17701516-17701516
GRCh38: 17:17798202-17798202
27 OTOF NM_194248.3(OTOF):c.5193-1G>A SNV Pathogenic 48256 rs111033373 GRCh37: 2:26685050-26685050
GRCh38: 2:26462182-26462182
28 OTOF NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) SNV Pathogenic 21840 rs80356595 GRCh37: 2:26698886-26698886
GRCh38: 2:26476018-26476018
29 OTOF NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) SNV Pathogenic 65787 rs397515591 GRCh37: 2:26700593-26700593
GRCh38: 2:26477725-26477725
30 OTOF NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) Duplication Pathogenic 65812 rs397515609 GRCh37: 2:26683527-26683528
GRCh38: 2:26460659-26460660
31 OTOF NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter) SNV Pathogenic 446440 rs753580324 GRCh37: 2:26684631-26684631
GRCh38: 2:26461763-26461763
32 OTOF NM_194248.3(OTOF):c.*20G>A SNV Pathogenic 548986 rs201326023 GRCh37: 2:26681086-26681086
GRCh38: 2:26458218-26458218
33 OTOF NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) SNV Pathogenic 627468 rs1558482554 GRCh37: 2:26698784-26698784
GRCh38: 2:26475916-26475916
34 OTOF NM_194248.3(OTOF):c.*196T>C SNV Pathogenic 916017 GRCh37: 2:26680910-26680910
GRCh38: 2:26458042-26458042
35 overlap with 3 genes NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del Deletion Pathogenic 634823 GRCh37: 16:21575218-21777910
GRCh38:
36 OTOF NM_194248.3(OTOF):c.4362+1G>C SNV Pathogenic 634822 rs1274464930 GRCh37: 2:26689966-26689966
GRCh38: 2:26467098-26467098
37 OTOF NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) SNV Pathogenic 977921 GRCh37: 2:26683540-26683540
GRCh38: 2:26460672-26460672
38 OTOF NM_194248.3(OTOF):c.4960+1G>C SNV Pathogenic 6140 rs80356602 GRCh37: 2:26687736-26687736
GRCh38: 2:26464868-26464868
39 OTOF NM_194248.3(OTOF):c.5712+1G>A SNV Pathogenic 21860 rs80356604 GRCh37: 2:26683719-26683719
GRCh38: 2:26460851-26460851
40 OTOF NM_194248.3(OTOF):c.766-2A>G SNV Pathogenic 6134 rs80356584 GRCh37: 2:26717943-26717943
GRCh38: 2:26495075-26495075
41 OTOF OTOF, IVS5, G-A, +1 SNV Pathogenic 6135 GRCh37:
GRCh38:
42 OTOF NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) SNV Pathogenic 21823 rs80356585 GRCh37: 2:26705384-26705384
GRCh38: 2:26482516-26482516
43 OTOF NM_194248.3(OTOF):c.1651del (p.Glu551fs) Deletion Pathogenic 21825 rs80356587 GRCh37: 2:26703806-26703806
GRCh38: 2:26480938-26480938
44 OTOF NM_194248.3(OTOF):c.2214+1G>T SNV Pathogenic 21832 rs80356589 GRCh37: 2:26702131-26702131
GRCh38: 2:26479263-26479263
45 OTOF NM_194248.1:c.5860_5862delATC Deletion Pathogenic 21862 GRCh37:
GRCh38:
46 OTOF NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) SNV Pathogenic 40177 rs397515435 GRCh37: 2:26703836-26703836
GRCh38: 2:26480968-26480968
47 OTOF NM_194248.3(OTOF):c.1236del (p.Glu413fs) Deletion Pathogenic 65775 rs397515581 GRCh37: 2:26706486-26706486
GRCh38: 2:26483618-26483618
48 OTOF NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) SNV Pathogenic 65776 rs397515582 GRCh37: 2:26706449-26706449
GRCh38: 2:26483581-26483581
49 OTOF NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) Deletion Pathogenic 65777 rs1443739332 GRCh37: 2:26705286-26705301
GRCh38: 2:26482418-26482433
50 OTOF NM_194248.3(OTOF):c.1601del (p.Pro534fs) Deletion Pathogenic 65778 rs397515583 GRCh37: 2:26703856-26703856
GRCh38: 2:26480988-26480988

Expression for Otof-Related Deafness

Search GEO for disease gene expression data for Otof-Related Deafness.

Pathways for Otof-Related Deafness

GO Terms for Otof-Related Deafness

Sources for Otof-Related Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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