MYO7A - myosin VIIA Gene

Homo sapiens

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

Gene ID: 4647 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

MyTH4

FERM_N

MyTH4

FERM_M

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))

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08950	MYO7A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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