OTOF - otoferlin Gene

Also Known as AUNB1; DFNB6; DFNB9; NSRD9; FER1L2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9381

About OTOF

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,457,203-26,558,756 (from NCBI)

This gene has 7 transcripts (splice variants), 282 orthologues, 4 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OTOF Products (5)

mRNA Protein Name
NM_001287489.2 NP_001274418.1 otoferlin isoform e
NM_004802.4 NP_004793.2 otoferlin isoform b
NM_194248.3 NP_919224.1 otoferlin isoform a
NM_194322.3 NP_919303.1 otoferlin isoform c
NM_194323.3 NP_919304.1 otoferlin isoform d

OTOF Protein Structure

C2

C2: C2 domain (19 - 81)

C2

C2: C2 domain (257 - 328)

FerI

FerI: FerI (NUC094) domain (339 - 410)

C2

C2: C2 domain (421 - 512)

FerB

FerB: FerB (NUC096) domain (842 - 919)

C2

C2: C2 domain (962 - 1051)

C2

C2: C2 domain (1155 - 1219)

C2

C2: C2 domain (1495 - 1576)

C2

C2: C2 domain (1815 - 1847)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1997 a.a.
Protein Preferred Names Protein Names

otoferlin

  • fer-1-like family member 2

関連疾患

Diseases Alias
Deafness, Autosomal Recessive 9
  • Auditory Neuropathy, Autosomal Recessive, 1

  • Neurosensory Nonsyndromic Recessive Deafness 9

  • DFNB9

  • Nsrd9

  • Autosomal Recessive Nonsyndromic Deafness 9

  • Autosomal Recessive Deafness 9

  • Nrsd9

  • AUNB1

  • Nonsyndromic Auditory Neuropathy Autosomal Recessive

  • Nsran

  • Deafness, Autosomal Recessive, 9

  • Deafness Neurosensory Autosomal Recessive 9

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

  • Non-Syndromic Recessive Hearing Loss 9

  • Deafness, Autosomal Recessive, Type 9

  • Auditory Neuropathy, Nonsyndromic Recessive

Otof-Related Deafness
  • Dfnb9

  • Dfnb9 Nonsyndromic Hearing Loss

  • Deafness, Autosomal Recessive 9

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Nonsyndromic Deafness
  • Deafness, Autosomal Recessive, Nonsyndromic

Ear Malformation
  • Cup Ear

Nonsyndromic Hearing Loss
  • Nonsyndromic Deafness

  • Nonsyndromic Hearing Impairment

  • Nonsyndromic Hearing Loss And Deafness

  • Deafness, Nonsyndromic

  • Isolated Deafness

Deafness, Autosomal Recessive
Non-Syndromic Genetic Deafness
  • Nonsyndromic Genetic Hearing Loss

  • Isolated Genetic Deafness

  • Isolated Genetic Hearing Loss

  • Non-Syndromic Genetic Hearing Loss

Rare Genetic Deafness
  • Rare Genetic Hearing Loss

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
  • Enlarged Vestibular Aqueduct

  • DFNB4

  • Neurosensory Nonsyndromic Recessive Deafness 4

  • Enlarged Vestibular Aqueduct Syndrome

  • Nsrd4

  • Autosomal Recessive Nonsyndromic Deafness 4

  • Dilated Vestibular Aqueduct

  • Dva

  • Enlarged Vestibular Aqueduct, Digenic

  • Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

  • Large Vestibular Aqueduct Syndrome

  • Deafness, Autosomal Recessive, 4

  • Deafness Neurosensory Autosomal Recessive 4

  • Eva

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

  • Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Dfnb1
  • Gjb2-Related Deafness

  • Connexin 26 Deafness

  • Deafness Nonsyndromic, Connexin 26 Linked

Deafness, Autosomal Dominant 25
  • DFNA25

  • Autosomal Dominant Nonsyndromic Deafness 25

  • Autosomal Dominant Deafness 25

  • Deafness, Autosomal Dominant, 25

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

  • Deafness, Autosomal Dominant, Type 25

Deafness, Autosomal Recessive 59
  • DFNB59

  • Autosomal Recessive Nonsyndromic Deafness 59

  • Autosomal Recessive Deafness 59

  • Deafness, Autosomal Recessive, 59

  • Dfnb59 Auditory Neuropathy

  • Deafness, Autosomal Recessive, Type 59

Auditory Neuropathy, Autosomal Dominant 1
  • Autosomal Dominant Auditory Neuropathy 1

  • AUNA1

  • Nsdan

  • Auditory Neuropathy, Autosomal Dominant, 1

  • Auditory Neuropathy, Nonsyndromic Dominant

  • Nonsyndromic Dominant Auditory Neuropathy

  • Nonsyndromic Auditory Neuropathy Autosomal Dominant

Deafness, Autosomal Recessive 85
  • DFNB85

  • Autosomal Recessive Nonsyndromic Deafness 85

  • Autosomal Recessive Deafness 85

Immunoglobulin Heavy-And-Light Chain
  • Ah/Al Amyloidosis

  • Ig Heavy-And-Light-Chain Amyloidosis

Deafness, Autosomal Recessive 16
  • DFNB16

  • Autosomal Recessive Nonsyndromic Deafness 16

  • Autosomal Recessive Deafness 16

  • Deafness, Autosomal Recessive, 16

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

  • Deafness, Autosomal Recessive, Type 16

Autosomal Recessive Nonsyndromic Deafness 3
  • Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

  • Dfnb3

  • Nrsd3

  • Deafness, Autosomal Recessive 3

Y-Linked Deafness
  • Dfny

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Deafness, Autosomal Recessive 1a
  • DFNB1A

  • Deafness, Digenic, Gjb2/Gjb3

  • Autosomal Recessive Nonsyndromic Deafness 1a

  • Deafness, Digenic, Gjb2/Gjb6

  • Deafness, Digenic Gjb2/Gjb6

  • Autosomal Recessive Deafness 1a

  • Deafness, Autosomal Recessive, 1a

  • Deafness Digenic Gjb2/Gjb3

  • Deafness Digenic Gjb2/Gjb6

  • Deafness Neurosensory Autosomal Recessive 1

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

  • Nsrd1

  • Deafness, Autosomal Recessive, Type 1a

Auditory System Disease
  • Ear Diseases

  • Ear And Mastoid Disease

Deafness, X-Linked 5, With Peripheral Neuropathy
  • Deafness, X-Linked 5

  • DFNX5

  • Aunx1

  • Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

  • X-Linked Deafness 5

  • X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

  • X-Linked Hsan With Deafness

  • X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

  • X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

  • X-Linked Hsan With Hearing Loss

  • X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

  • Deafness, X-Linked, 5, With Peripheral Neuropathy

  • Deafness, X-Linked, Type 5

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Usher Syndrome, Type Iiia
  • Usher Syndrome Type 3

  • Ush3

  • Usher Syndrome Type 3a

  • USH3A

  • Usher Syndrome, Type Iii

  • Usher Syndrome, Type 3

  • Usher Syndrome, Type 3a

  • Usher Syndrome Type Iiia

  • Usher Syndrome 3a

  • Usher'S Syndrome Type 3

  • Usher Syndrome Iii

  • Usher Syndrome Type Iii

Deafness, Autosomal Dominant 36
  • DFNA36

  • Autosomal Dominant Nonsyndromic Deafness 36

  • Autosomal Dominant Deafness 36

  • Deafness, Autosomal Dominant, 36

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36

  • Deafness, Autosomal Dominant, Type 36

Deafness, Autosomal Recessive 83
  • DFNB83

  • Autosomal Recessive Nonsyndromic Deafness 83

  • Autosomal Recessive Deafness 83

Deafness, Autosomal Recessive 2
  • DFNB2

  • Neurosensory Nonsyndromic Recessive Deafness 2

  • Nsrd2

  • Autosomal Recessive Nonsyndromic Deafness 2

  • Deafness, Autosomal Recessive, Type 2

  • Autosomal Recessive Deafness 2

  • Deafness, Autosomal Recessive, 2

  • Deafness Neurosensory Autosomal Recessive 2

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

  • Deafness, Autosomal Recessive 2, Neurosensory

Deafness, Autosomal Recessive 93
  • DFNB93

  • Autosomal Recessive Nonsyndromic Deafness 93

  • Autosomal Recessive Deafness 93

  • Deafness, Autosomal Recessive, 93

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93

  • Deafness, Autosomal Recessive, Type 93

Deafness, Autosomal Recessive 21
  • DFNB21

  • Autosomal Recessive Nonsyndromic Deafness 21

  • Autosomal Recessive Deafness 21

  • Deafness, Autosomal Recessive, 21

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21

  • Deafness, Autosomal Recessive, Type 21

Vestibular Disease
  • Vestibular Diseases

  • Vertigo, Vestibular Disorder

  • Vestibular Disorder

  • Diseases Of Inner Ear

Deafness, Autosomal Recessive 8
  • Neurosensory Nonsyndromic Recessive Deafness 8

  • DFNB8

  • Dfnb10

  • Deafness, Autosomal Recessive 10

  • Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

  • Nsrd8

  • Autosomal Recessive Nonsyndromic Deafness 8

  • Deafness, Autosomal Recessive 8/10

  • Autosomal Recessive Deafness 10

  • Autosomal Recessive Deafness 8

  • Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

  • Nrsd8

  • Deafness, Autosomal Recessive, 8

  • Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

  • Deafness Autosomal Recessive 10

  • Deafness Autosomal Recessive 8/10

  • Deafness Neurosensory Autosomal Recessive 8

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

  • Deafness, Autosomal Recessive, Type 8/10

Deafness, Autosomal Recessive 12
  • DFNB12

  • Deafness, Autosomal Recessive 12, Modifier Of

  • Autosomal Recessive Nonsyndromic Deafness 12

  • Autosomal Recessive Deafness 12

  • Deafness, Autosomal Recessive, 12

  • Congenital Neurosensory Deafness Autosomal Recessive 12

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

  • Deafness, Autosomal Recessive, Type 12

Deafness, Autosomal Dominant 3a
  • DFNA3A

  • Autosomal Dominant Nonsyndromic Deafness 3a

  • Autosomal Dominant Deafness 3a

  • Deafness, Autosomal Dominant, 3a

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

  • Deafness, Autosomal Dominant, Type 3a

Ceroid Lipofuscinosis, Neuronal, 6a
  • Neuronal Ceroid Lipofuscinosis 6

  • CLN6

  • Vlincl

  • Cln6 Disease

  • Ceroid Lipofuscinosis, Neuronal, 6

  • Late-Infantile Neuronal Ceroid Lipofuscinosis

  • CLN6A

  • Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant

  • Neuronal Ceroid Lipofuscinosis 6a

  • Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset

  • Cln6 Disease, Adult Kufs Type A

  • Cln6 Disease, Late Infantile

  • Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant

  • Ceroid Lipofuscinosis Neuronal 6

  • Cln6-Related Neuronal Ceroid Lipofuscinosis

  • Late Infantile Neuronal Ceroid Lipofuscinosis

  • Jansky-Bielschowsky Disease

  • Lincl

  • Late Infantile Ncl

  • Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset

  • Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis

  • Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant

  • Lipofuscinosis, Ceroid, Neuronal, Type 6

  • Ceroid Lipofuscinosis, Neuronal, 5

Cochlear Disease
  • Cochlear Diseases

Deafness, Autosomal Recessive 39
  • DFNB39

  • Autosomal Recessive Nonsyndromic Deafness 39

  • Autosomal Recessive Deafness 39

  • Deafness, Autosomal Recessive, 39

  • Congenital Neurosensory Deafness Autosomal Recessive 39

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39

  • Deafness, Autosomal Recessive, Type 39

Deafness, Autosomal Recessive 35
  • DFNB35

  • Autosomal Recessive Nonsyndromic Deafness 35

  • Autosomal Recessive Deafness 35

  • Deafness, Autosomal Recessive, 35

  • Deafness, Autosomal Recessive, Type 35

Deafness, Autosomal Dominant 22
  • DFNA22

  • Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy

  • Autosomal Dominant Nonsyndromic Deafness 22

  • Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

  • Autosomal Dominant Deafness 22

  • Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome

  • Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

  • Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome

  • DFNHCM

  • Deafness, Autosomal Dominant, 22

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22

  • Deafness, Autosomal Dominant, Type 22

  • Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Deafness, Autosomal Dominant 44
  • DFNA44

  • Autosomal Dominant Nonsyndromic Deafness 44

  • Autosomal Dominant Deafness 44

  • Deafness, Autosomal Dominant, 44

  • Deafness, Autosomal Dominant, Type 44

Deafness, Autosomal Dominant 9
  • DFNA9

  • Autosomal Dominant Nonsyndromic Deafness 9

  • Autosomal Dominant Deafness 9

  • Deafness, Autosomal Dominant, 9

  • Deafness, Autosomal Dominant, Type 9

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
  • Lgmd2b

  • Lgmd3

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy Type 3

  • Muscular Dystrophy, Limb-Girdle, Type 2b

Usher Syndrome, Type Id
  • Usher Syndrome Type 1d

  • USH1D

  • Usher Syndrome, Type 1d

  • Usher Syndrome Type Id

  • Usher Syndrome, Type Id/F, Digenic

  • Usher Syndrome, Type 1d/F Digenic

  • Usher Syndrome 1d

  • Usher'S Syndrome Type 1d

  • Usher Syndrome 1d/F

  • USH1DF

  • Ush1d/F

  • Usher'S Syndrome Type 1h

  • Usher Syndrome 1h

  • Usher Syndrome Type Ih

  • Usher Syndrome, Type 1d/F

Inner Ear Disease
  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos

Usher Syndrome Type 2
  • Ush2

  • Usher Syndrome Type Ii

Deafness, Autosomal Recessive 63
  • DFNB63

  • Autosomal Recessive Nonsyndromic Deafness 63

  • Autosomal Recessive Deafness 63

  • Deafness, Autosomal Recessive, 63

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

  • Deafness, Autosomal Recessive, Type 63

Pendred Syndrome
  • Goiter-Deafness Syndrome

  • Deafness With Goiter

  • PDS

  • Thyroid Dyshormonogenesis 2b

  • Tdh2b

  • Autosomal Recessive Sensorineural Hearing Impairment And Goiter

  • Pendred'S Syndrome

  • Thyroid Hormonogenesis, Genetic Defect In, 2b

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

  • Congenital Hypothyroidism Due To Dyshormonogenesis 2b

  • Genetic Defect In Thyroid Hormonogenesis 2b

  • Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

  • Goiter-Hearing Loss Syndrome

  • Goitre-Deafness Syndrome

  • Goitre Deafness

Usher Syndrome, Type Iia
  • Usher Syndrome Type 2a

  • USH2A

  • Usher Syndrome, Type 2a

  • Usher Syndrome Type Iia

  • Retinal Disease In Usher Syndrome Type Iia, Modifier Of

  • Us2

  • Ush2

  • Usher Syndrome 2a

  • Usher'S Syndrome Type 2a

  • Ushiia

X-Linked Nonsyndromic Deafness
  • X-Linked Deafness

  • Deafness, X-Linked

Waardenburg'S Syndrome
  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a

Branchiootorenal Syndrome
  • Branchio-Oto-Renal Syndrome

  • Bor Syndrome

  • Branchiootorenal Dysplasia

  • Melnick-Fraser Syndrome

  • Branchiootorenal Spectrum Disorders

  • Branchio-Otorenal Dysplasia

  • Branchio Oto Renal Syndrome

  • Branchiootorenal/Branchiootic Syndrome

  • Bo Syndrome

  • Bor

  • Bos

  • Branchio-Otorenal Syndrome

  • Branchiootic Syndrome

  • Branchiootorenal Syndrome

  • Branchiootic Syndrome 1

Jervell And Lange-Nielsen Syndrome 1
  • Jervell And Lange-Nielsen Syndrome

  • Jervell-Lange Nielsen Syndrome

  • Prolonged Qt Interval In Ekg And Sudden Death

  • Cardioauditory Syndrome Of Jervell And Lange-Nielsen

  • Surdo-Cardiac Syndrome

  • JLNS1

  • Deafness, Congenital, And Functional Heart Disease

  • Jlns

  • Long Qt Interval-Deafness Syndrome

  • Jervell And Lange-Nielson Syndrome

  • Jervell Lange-Nielsen Syndrome

  • Autosomal Recessive Long Qt Syndrome

  • Cardio-Auditory-Syncope Syndrome

  • Long Qt Interval-Hearing Loss Syndrome

  • Congenital Deafness And Functional Heart Disease

  • Long Qt Interval-Deafness

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Usher Syndrome, Type I
  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib

Otosclerosis
  • Otospongiosis

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Felis catus OTOF VGNC VGNC:68662
Canis familiaris OTOF VGNC VGNC:44176
Macaca mulatta OTOF VGNC VGNC:75724
Mus musculus OTOF MGD MGI:1891247
Bos taurus OTOF VGNC VGNC:32484
Rattus norvegicus OTOF RGD RGD:620646
Others OTOF NCBI