MYO7A - myosin VIIA Gene

Also Known as DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4647

About MYO7A

Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38): 11:77,128,246-77,215,241 (from NCBI)

This gene has 13 transcripts (splice variants), 258 orthologues, 43 paralogues and is associated with 9 phenotypes. Broad expression in adrenal (RPKM 8.3), testis (RPKM 6.5) and 17 other tissues.

Summary

This gene is a member of the Myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with Other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional Myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

MYO7A Products (3)

mRNA Protein Name
NM_000260.4 NP_000251.3 unconventional myosin-VIIa isoform 1
NM_001127180.2 NP_001120652.1 unconventional myosin-VIIa isoform 2
NM_001369365.1 NP_001356294.1 unconventional myosin-VIIa isoform 4
Molecular Function GO Annotation Evidence References Source
enables actin filament binding IDA
IDA: Inferred from direct assay
21687988 GOA
enables calmodulin binding IMP
IMP: Inferred from mutant phenotype
15300860 GOA
enables microfilament motor activity IDA
IDA: Inferred from direct assay
21687988 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11964381 GOA
enables spectrin binding IDA
IDA: Inferred from direct assay
23704327 GOA
Biological Process GO Annotation Evidence References Source
involved in actin filament-based movement IDA
IDA: Inferred from direct assay
21687988 GOA
involved in equilibrioception IMP
IMP: Inferred from mutant phenotype
7870171 GOA
involved in lysosome organization IDA
IDA: Inferred from direct assay
16001398 GOA
involved in sensory perception of light stimulus IMP
IMP: Inferred from mutant phenotype
11398101 GOA
acts upstream of or within sensory perception of sound IMP
IMP: Inferred from mutant phenotype
7870171 GOA
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
7870171 GOA
involved in visual perception IMP
IMP: Inferred from mutant phenotype
7870171 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23704327 GOA
located in cytosol IDA
IDA: Inferred from direct assay
15300860 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
16001398 GOA
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
8842737 GOA
located in photoreceptor outer segment IDA
IDA: Inferred from direct assay
8842737 GOA
located in synapse IDA
IDA: Inferred from direct assay
8842737 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO7A Protein Structure

Myosin_head

Myosin_head: Myosin head (motor domain) (67 - 729)

IQ

IQ: IQ calmodulin-binding motif (769 - 787)

IQ

IQ: IQ calmodulin-binding motif (815 - 834)

IQ

IQ: IQ calmodulin-binding motif (839 - 856)

MyTH4

MyTH4: MyTH4 domain (1149 - 1253)

FERM_N

FERM_N: FERM N-terminal domain (1262 - 1348)

MyTH4

MyTH4: MyTH4 domain (1791 - 1896)

FERM_M

FERM_M: FERM central domain (2013 - 2115)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2215 a.a.
Protein Preferred Names Protein Names

unconventional myosin-VIIa

  • myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))

MYO7A Antibodies

Cat. No. Product Name Application Reactivity
HY-P81920 MYO7A Antibody (YA1665) WB, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Deafness, Autosomal Dominant 11
  • DFNA11

  • Autosomal Dominant Nonsyndromic Deafness 11

  • Autosomal Dominant Deafness 11

  • Deafness, Autosomal Dominant, 11

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11

  • Deafness, Autosomal Dominant, Type 11

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

Usher Syndrome Type 2
  • Ush2

  • Usher Syndrome Type Ii

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

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

Ear Malformation
  • Cup Ear

Non-Syndromic Genetic Deafness
  • Nonsyndromic Genetic Hearing Loss

  • Isolated Genetic Deafness

  • Isolated Genetic Hearing Loss

  • Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss
  • Nonsyndromic Deafness

  • Nonsyndromic Hearing Impairment

  • Nonsyndromic Hearing Loss And Deafness

  • Deafness, Nonsyndromic

  • Isolated Deafness

Rare Genetic Deafness
  • Rare Genetic Hearing Loss

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 Dominant Non-Syndromic Sensorineural Deafness Type Dfna
  • Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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

Meniere Disease
  • Meniere'S Disease

  • Otogenic Vertigo

  • Ménière Disease

  • Ménière'S Disease

  • Mnire'S Vertigo

  • Auditory Vertigo

  • Aural Vertigo

  • Meniere'S Syndrome

  • Ménière'S Vertigo

  • Primary Endolymphatic Hydrops

  • Menieres Disease

  • Vertigo, Aural

  • Labyrinth Hydrops

  • Labyrinthine Hydrops

  • Labyrinthine Vertigo

  • Ménière Syndrome

  • Ménière Vertigo

  • Idiopathic Endolymphatic Hydrops

Dfnb1
  • Gjb2-Related Deafness

  • Connexin 26 Deafness

  • Deafness Nonsyndromic, Connexin 26 Linked

Autosomal Recessive Nonsyndromic Deafness
  • Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive 3
  • DFNB3

  • Neurosensory Nonsyndromic Recessive Deafness 3

  • Nsrd3

  • Deafness, Autosomal Recessive, 3

  • Deafness Neurosensory Autosomal Recessive 3

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3

  • Deafness, Autosomal Recessive, Type 3

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

Retinal Degeneration
  • Degeneration Of Retina

Usher Syndrome, Type Ic
  • USH1C

  • Usher Syndrome Type 1c

  • Usher Syndrome, Type 1c

  • Usher Syndrome Type I Acadian Variety

  • Usher Syndrome Type Ic

  • Usher Syndrome, Type I, Acadian Variety

  • Usher Syndrome 1c

  • Acadian Usher Syndrome

  • Usher'S Syndrome Type 1c

Deafness, Autosomal Recessive
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

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

  • Dfnb3

  • Nrsd3

  • Deafness, Autosomal Recessive 3

Deafness, Autosomal Dominant 15
  • DFNA15

  • Autosomal Dominant Nonsyndromic Deafness 15

  • Autosomal Dominant Deafness 15

  • Deafness, Autosomal Dominant, 15

  • Deafness, Autosomal Dominant, Type 15

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 Recessive 18a
  • Deafness, Autosomal Recessive 18

  • DFNB18A

  • Dfnb18

  • Autosomal Recessive Nonsyndromic Deafness 18a

  • Autosomal Recessive Deafness 18a

  • Deafness, Autosomal Recessive, 18a

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18

  • Deafness, Autosomal Recessive, Type 18a

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 48
  • DFNA48

  • Autosomal Dominant Nonsyndromic Deafness 48

  • Autosomal Dominant Deafness 48

  • Deafness, Autosomal Dominant, 48

  • Deafness Autosomal Dominant Due To Mutation In Myo1a

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48

  • Deafness, Autosomal Dominant, Type 48

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
  • Konigsmark Syndrome

  • DFNA1

  • Autosomal Dominant Nonsyndromic Deafness 1

  • Lfhl1

  • Deafness, Autosomal Dominant 1

  • Autosomal Dominant Deafness 1

  • Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

  • Hereditary Low Frequency Hearing Loss 1

  • Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

  • Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

  • Hereditary Low-Frequency Hearing Loss

  • Hereditary Low-Frequency Sensorineural Hearing Loss

  • Lfsnhl1

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

  • Deafness, Autosomal Dominant, Type 1

Deafness, Autosomal Recessive 37
  • DFNB37

  • Autosomal Recessive Nonsyndromic Deafness 37

  • Autosomal Recessive Deafness 37

  • Deafness, Autosomal Recessive, 37

  • Congenital Neurosensory Deafness Autosomal Recessive 37

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37

  • Deafness, Autosomal Recessive, Type 37

Deafness, Autosomal Recessive 23
  • DFNB23

  • Autosomal Recessive Nonsyndromic Deafness 23

  • Autosomal Recessive Deafness 23

  • Deafness, Autosomal Recessive, 23

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23

  • Deafness, Autosomal Recessive, Type 23

Auditory System Disease
  • Ear Diseases

  • Ear And Mastoid Disease

Deafness, Autosomal Dominant 17
  • DFNA17

  • Autosomal Dominant Nonsyndromic Deafness 17

  • Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17

  • Autosomal Dominant Deafness 17

  • Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration

  • Nonsyndromic Hereditary Deafness Dfna17

  • Deafness, Autosomal Dominant, 17

  • Cochleosaccular Degeneration

  • Deafness, Autosomal Dominant, Type 17

  • Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Vestibular Disease
  • Vestibular Diseases

  • Vertigo, Vestibular Disorder

  • Vestibular Disorder

  • Diseases Of Inner Ear

Deafness, Autosomal Dominant 9
  • DFNA9

  • Autosomal Dominant Nonsyndromic Deafness 9

  • Autosomal Dominant Deafness 9

  • Deafness, Autosomal Dominant, 9

  • Deafness, Autosomal Dominant, Type 9

Labyrinthitis
  • Labyrinthine Disorder

  • Inner Ear Inflammation

  • Otitis Interna

  • Labyrinth Hyperaemia

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

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

Deafness, Autosomal Recessive 30
  • DFNB30

  • Autosomal Recessive Nonsyndromic Deafness 30

  • Autosomal Recessive Deafness 30

  • Deafness, Autosomal Recessive, 30

  • Deafness, Autosomal Recessive, Type 30

Drug-Induced Hearing Loss
  • Drug Induced Hearing Loss

Retinoschisis 1, X-Linked, Juvenile
  • Retinoschisis

  • X-Linked Retinoschisis

  • X-Linked Juvenile Retinoschisis

  • RS1

  • XLRS1

  • X-Linked Juvenile Retinoschisis 1

  • Xlrs

  • Retinoschisis, X-Linked

  • Rs

  • Congenital X-Linked Retinoschisis

  • Degenerative Retinoschisis

  • Juvenile Retinoschisis

  • Xjr

  • Retinoschisis Juvenile X-Linked 1

  • Retinoschisis, Juvenile, X-Linked

  • Retinoschisis, Degenerative

Retinitis Pigmentosa-Deafness Syndrome
  • Retinitis Pigmentosa 8, Formerly

  • Rp8, Formerly

  • Retinitis Pigmentosa 21, Formerly

  • Rp21, Formerly

  • Usher Syndrome

Keratitis, Hereditary
  • Keratitis

  • Autosomal Dominant Keratitis

  • Hereditary Keratitis

  • Dominantly Inherited Keratitis

  • Keratitis Hereditary

  • KERH

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

Peripheral Vertigo
  • Vertigo, Peripheral

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

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

Deafness And Myopia
  • High Myopia-Sensorineural Deafness Syndrome

  • DFNMYP

  • Deafness And Myopia Syndrome

  • Deafness, Cochlear, Plus

  • High Myopia And Sensorineural Deafness

  • Myopia And Deafness

  • High Myopia-Sensorineural Hearing Loss Syndrome

Deafness, Autosomal Recessive 76
  • DFNB76

  • Autosomal Recessive Nonsyndromic Deafness 76

  • Autosomal Recessive Deafness 76

  • Deafness, Autosomal Recessive, 76

  • Deafness, Autosomal Recessive, Type 76

Usher Syndrome, Type If
  • Usher Syndrome Type 1f

  • USH1F

  • Usher Syndrome, Type 1f

  • Usher Syndrome Type If

  • Usher Syndrome 1f

  • Usher'S Syndrome Type 1f

Usher Syndrome, Type Ig
  • Usher Syndrome Type 1g

  • USH1G

  • Usher Syndrome, Type 1g

  • Usher Syndrome Type Ig

  • Usher Syndrome 1g

  • Usher'S Syndrome Type 1g

Usher Syndrome, Type Iid
  • Usher Syndrome Type 2d

  • USH2D

  • Usher Syndrome, Type 2d

  • Usher Syndrome Type Iid

  • Usher Syndrome 2d

  • Usher Syndrome, Type Ii

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 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 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

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Retinitis Pigmentosa 73
  • RP73

  • Retinitis Pigmentosa, Type 73

Deafness, Autosomal Recessive 83
  • DFNB83

  • Autosomal Recessive Nonsyndromic Deafness 83

  • Autosomal Recessive Deafness 83

Deafness, Autosomal Recessive 100
  • DFNB100

  • Autosomal Recessive Nonsyndromic Deafness 100

  • Autosomal Recessive Deafness 100

  • Deafness, Autosomal Recessive, 100

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

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

Eye Degenerative Disease
Stargardt Disease
  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease

Acute Hemorrhagic Leukoencephalitis
  • Ahl

  • Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

  • Leukoencephalitis, Acute Hemorrhagic

  • Acute Hemorrhagic Encephalomyelitis

  • Acute Necrotizing Hemorrhagic Leukoencephalitis

  • Weston-Hurst Syndrome

  • Ahle

  • Acute Haemorrhagic Leucoencephalitis

  • Hurst Disease

  • Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

  • Postimmunization Or Postvaccinal Leukoencephalopathy

Digenic Disease
Choroid Disease
  • Choroid Diseases

  • Abnormality Of The Choroid

Deafness, Autosomal Recessive 110
  • DFNB110

  • Autosomal Recessive Nonsyndromic Deafness 110

  • Autosomal Recessive Deafness 110

  • Deafness, Autosomal Recessive, 110

Developmental And Epileptic Encephalopathy 75
  • DEE75

  • Epileptic Encephalopathy, Early Infantile, 75

  • Eiee75

  • Developmental And Epileptic Encephalopathy, 75

  • Early Infantile Epileptic Encephalopathy 75

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
  • Door Syndrome

  • Doors Syndrome

  • Digitorenocerebral Syndrome

  • Autosomal Recessive Deafness-Onychodystrophy Syndrome

  • Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

  • DOORS

  • Drc Syndrome

  • Eronen Syndrome

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Brachydactyly Due To Absence Of Distal Phalanges

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

  • Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

  • Deafness, Congenital Onychodystrophy, Recessive Form

  • Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

X-Linked Nonsyndromic Deafness
  • X-Linked Deafness

  • Deafness, X-Linked

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

Stickler Syndrome
  • Arthroophthalmopathy

  • Hereditary Arthro-Ophthalmo-Dystrophy

  • Hereditary Arthro-Ophthalmopathy

  • Stickler Dysplasia

  • Hereditary Progressive Arthroophthalmopathy

  • Stickler Syndrome, Type 1

Choroideremia
  • CHM

  • Tcd

  • Progressive Tapetochoroidal Dystrophy

  • Choroidal Sclerosis

  • Tapetochoroidal Dystrophy, Progressive

  • Progressive Choroidal Atrophy

  • Tapetochoroidal Dystrophy

Deafness, X-Linked 2
  • Progressive Deafness With Stapes Fixation

  • DFNX2

  • Dfn3

  • Nance Deafness

  • Perilymphatic Gusher-Deafness Syndrome

  • Stapedo-Vestibular Ankylosis

  • Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

  • X-Linked Deafness 2

  • X-Linked Mixed Conductive And Neurosensory Deafness

  • X-Linked Mixed Conductive And Sensorineural Deafness

  • Deafness 3 Conductive With Stapes Fixation

  • Deafness Conductive With Stapes Fixation

  • Deafness Mixed With Perilymphatic Gusher

  • Thies-Reis Syndrome

  • Deafness, Conductive, With Stapes Fixation

  • Deafness 3, Conductive, With Stapes Fixation

  • Deafness, Mixed, With Perilymphatic Gusher

  • Conductive Deafness 3 With Stapes Fixation

  • Conductive Deafness With Stapes Fixation

  • Mixed Deafness With Perilymphatic Gusher

  • X-Linked Deafness Type 2

  • X-Linked Mixed Conductive And Neurosensory Hearing Loss

  • X-Linked Mixed Conductive And Sensorineural Hearing Loss

  • X-Linked Sensorineural Deafness

  • X-Linked Stapes Gusher Syndrome

  • Deafness Mixed With Perilymphatic Gusher, X-Linked

  • Dfn 3 Nonsyndromic Hearing Loss And Deafness

  • Gusher Syndrome

  • Thies Reis Syndrome

  • Progressive Hearing Loss With Stapes Fixation

  • Deafness, X-Linked, 2

  • Deafness Mixed With Perilymph Gusher X-Linked

  • Deafness, X-Linked, Type 2

  • Progressive Hearing Loss Stapes Fixation

Deafness, Aminoglycoside-Induced
  • Streptomycin Ototoxicity

  • Deafness, Mitochondrial, Modifier Of

  • Aminoglycoside-Induced Deafness

  • Deafness, Streptomycin-Induced

  • Streptomycin-Induced Deafness

  • DFNI

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

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

Sensory System Disease
Achromatopsia
  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

Otosclerosis
  • Otospongiosis

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

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

Species Symbol Source ID
Bos taurus MYO7A VGNC VGNC:31830
Mus musculus MYO7A MGD MGI:104510
Canis familiaris MYO7A VGNC VGNC:43572
Felis catus MYO7A VGNC VGNC:68399
Macaca mulatta MYO7A VGNC VGNC:75119
Rattus norvegicus MYO7A RGD RGD:628830