MCID: USH001
MIFTS: 58

Usher Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Usher Syndrome

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Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 35MedlinePlus, 65UMLS, 22GeneTests, 24GTR, 36MeSH, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Usher Syndrome:

Name: Usher Syndrome 10 68 45 23 47 12 51 35 65
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 68 45 23
Retinitis Pigmentosa-Deafness Syndrome 68 45 23
Deafness-Retinitis Pigmentosa Syndrome 68 45 23
Graefe-Usher Syndrome 68 45 23
Hallgren Syndrome 68 45 23
Usher's Syndrome 45 22 23
 
Retinitis Pigmentosa - Deafness 51 24
Retinitis Pigmentosa 21, Formerly 45
Retinitis Pigmentosa 8, Formerly 45
Usher Syndromes 36
Rp21, Formerly 45
Rp8, Formerly 45
Ush 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
usher syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0050439
MeSH36 D052245
Orphanet51 886
MESH via Orphanet37 D052245
UMLS via Orphanet66 C0271097
ICD10 via Orphanet28 H35.5

Summaries for Usher Syndrome

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MedlinePlus:35 Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. it is the most common condition that affects both hearing and vision. there are three types of usher syndrome: people with type i are deaf from birth and have severe balance problems from a young age. vision problems usually start by age 10 and lead to blindness. people with type ii have moderate to severe hearing loss and normal balance. vision problems start in the early teens and get worse more slowly than in type i. people with type iii are born with normal hearing and near-normal balance but develop vision problems and then hearing loss. there is no cure. tools such as hearing aids or cochlear implants can help some people. training such as braille instruction, low-vision services, or auditory training can also help. nih: national institute on deafness and other communication disorders

MalaCards based summary: Usher Syndrome, also known as dystrophia retinae pigmentosa-dysostosis syndrome, is related to usher syndrome, type 1d and usher syndrome, type 1c, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome is USH1G (Usher Syndrome 1G (Autosomal Recessive)). Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Disease Ontology:10 A syndrome characterized by a combination of hearing loss and visual impairment.

NIH Rare Diseases:45 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

Genetics Home Reference:23 Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however.

Wikipedia:68 Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of at least 11... more...

Related Diseases for Usher Syndrome

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Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

Diseases related to Usher Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1d31.6CDH23, PCDH15, USH1C
2usher syndrome, type 1c31.6MYO7A, USH1C, USH1G, USHBP1
3usher syndrome, type 2a31.5PDZD7, USH2A
4usher syndrome, type 1b31.5CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
5usher syndrome, type 2c31.5ADGRV1, PDZD7
6usher syndrome, type 1f31.5MYO7A, PCDH15, USH1C, USH1G
7usher syndrome, type 3a31.3CLRN1, HARS, MT-TS2
8usher syndrome type 1k30.9CIB2, DFNB31, MYO7A
9usher syndrome type ii10.9
10retinitis10.8
11retinitis pigmentosa10.7
12usher syndrome, type 2d10.6
13usher syndrome, type 1g10.6
14usher syndrome type 3b10.6
15usher syndrome, type ij10.6
16retinal disease10.5
17retinal degeneration10.5
18sensorineural hearing loss10.5
19retinitis pigmentosa autosomal recessive10.5
20adult syndrome10.4
21cone-rod dystrophy10.4
22foster-kennedy syndrome10.4
23pemphigus10.4
24hereditary retinal dystrophy10.4
25spiradenoma10.4
26auditory system disease10.4
27congenital nervous system abnormality10.4
28eye degenerative disease10.4
29eye disease10.4
30fundus dystrophy10.4
31globe disease10.4
32optic nerve disease10.4
33degenerative nerve diseases10.4
34hearing disorders and deafness10.4
35deafness and hereditary hearing loss10.4
36hearing loss/deafness10.4
37retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.4
38usher syndrome, type ik10.4
39usher syndrome type 1j10.4
40pemphigus erythematosus10.4
41child syndrome10.4
42hearing problems in children10.4
43kid syndrome10.4
44usher syndrome, type 2b10.4
45retinitis pigmentosa 110.3
46retinitis pigmentosa 210.3
47central nervous system hereditary degenerative disease10.3
48nonsyndromic deafness10.3
49uveitis10.3
50cone-rod dystrophy 110.3

Graphical network of the top 20 diseases related to Usher Syndrome:



Diseases related to usher syndrome

Symptoms for Usher Syndrome

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Symptoms:

 51 (show all 32)
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • myopia
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • astigmatism
  • nystagmus
  • complete/partial microdontia
  • enamel anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • tinnitus
  • hyperacusia
  • cardiomyopathy/hypertrophic/dilated
  • functional anomalies of the cardio-circulatory system
  • sterility/hypofertility
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography

HPO human phenotypes related to Usher Syndrome:

(show all 27)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 nyctalopia hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 abnormality of retinal pigmentation hallmark (90%) HP:0007703
7 cataract typical (50%) HP:0000518
8 hypermetropia typical (50%) HP:0000540
9 myopia typical (50%) HP:0000545
10 incoordination typical (50%) HP:0002311
11 cognitive impairment typical (50%) HP:0100543
12 decreased fertility occasional (7.5%) HP:0000144
13 tinnitus occasional (7.5%) HP:0000360
14 astigmatism occasional (7.5%) HP:0000483
15 nystagmus occasional (7.5%) HP:0000639
16 carious teeth occasional (7.5%) HP:0000670
17 abnormality of dental enamel occasional (7.5%) HP:0000682
18 microdontia occasional (7.5%) HP:0000691
19 hallucinations occasional (7.5%) HP:0000738
20 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
21 cerebral cortical atrophy occasional (7.5%) HP:0002120
22 myopathy occasional (7.5%) HP:0003198
23 emg abnormality occasional (7.5%) HP:0003457
24 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
25 hyperacusis occasional (7.5%) HP:0010780
26 abnormality of cardiovascular system physiology occasional (7.5%) HP:0011025
27 abnormality of dental color occasional (7.5%) HP:0011073

Drugs & Therapeutics for Usher Syndrome

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Drugs for Usher Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Omega 3 Fatty AcidNutraceutical890

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
2Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaRecruitingNCT01530659Phase 2
3A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2
4Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
5A Genetic Analysis of Usher Syndrome in Ashkenazi JewsCompletedNCT00016471
6Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in EuropeRecruitingNCT01954953
7Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
8Molecular Genetics of Retinal DegenerationsRecruitingNCT00231010
9Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
10Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher SyndromeTerminatedNCT00004345

Search NIH Clinical Center for Usher Syndrome


Cochrane evidence based reviews: Usher Syndromes

Genetic Tests for Usher Syndrome

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Genetic tests related to Usher Syndrome:

id Genetic test Affiliating Genes
1 Usher Syndrome22
2 Retinitis Pigmentosa-Deafness Syndrome24

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

33
Retina, Eye, Cerebellum, Bone

Animal Models for Usher Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.8ABHD12, ADGRV1, CDH23, CLRN1, DFNB31, MYO7A
2MP:00053919.6ABHD12, ADGRV1, CDH23, CLRN1, DFNB31, MYO7A
3MP:00036319.4ABHD12, ADGRV1, CDH23, CLRN1, DFNB31, MYO7A
4MP:00053869.2ABHD12, ADGRV1, CDH23, CLRN1, DFNB31, MYO7A

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50)    (show all 404)
idTitleAuthorsYear
1
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. (26180195)
2015
2
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family. (26425852)
2015
3
Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. (26177750)
2015
4
Partial USH2A deletions contribute to Usher syndrome in Denmark. (26559128)
2015
5
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. (25333064)
2014
6
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. (24334608)
2014
7
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. (25324289)
2014
8
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
9
Nongranulomatous anterior uveitis in a patient with Usher syndrome. (24371428)
2013
10
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. (23237960)
2013
11
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
2012
12
Usher syndrome. (22314473)
2012
13
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
14
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. (21593743)
2011
15
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
16
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. (21686329)
2011
17
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. (21675857)
2011
18
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
19
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
20
Usher syndrome type 1: early detection of electroretinographic changes. (19006676)
2009
21
Update on Usher syndrome. (19165952)
2009
22
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
23
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. (19414487)
2009
24
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. (18058117)
2008
25
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. (18484607)
2008
26
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
27
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
2007
28
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. (16545802)
2006
29
Molecular genetic study of Usher syndrome in Spain]. (16240916)
2005
30
Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. (15952048)
2005
31
Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. (15236894)
2004
32
Genetic heterogeneity in Usher syndrome. (15368488)
2004
33
Mutational spectrum in Usher syndrome type II. (15025721)
2004
34
Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude. (15180256)
2003
35
Usher syndrome and cochlear implantation. (12621335)
2003
36
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
37
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (12145752)
2002
38
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (11060213)
2000
39
Early diagnosis of Usher syndrome in children. (11190026)
2000
40
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (10930322)
2000
41
The usher syndromes. (10704190)
1999
42
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
43
Epidemiology of Usher syndrome in Valencia and Spain. (15178965)
1998
44
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. (9718356)
1998
45
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. (9212179)
1997
46
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
47
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
48
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. (1427898)
1992
49
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1978628)
1990
50
A case for diagnosis (lupus erythematosus with superimposed Senear-Usher syndrome). (20277314)
1946

Variations for Usher Syndrome

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Clinvar genetic disease variations for Usher Syndrome:

5 (show all 295)
id Gene Variation Type Significance SNP ID Assembly Location
1USH2ANM_206933.2(USH2A): c.7475C> A (p.Ser2492Ter)single nucleotide variantLikely pathogenicrs483353056GRCh37Chr 1, 216073536: 216073536
2ADGRV1NM_032119.3(ADGRV1): c.12403+1G> Tsingle nucleotide variantLikely pathogenicrs527236132GRCh38Chr 5, 90774304: 90774304
3ADGRV1NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter)single nucleotide variantLikely pathogenicrs527236131GRCh38Chr 5, 90810996: 90810996
4ADGRV1NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter)single nucleotide variantLikely pathogenicrs527236133GRCh38Chr 5, 90692659: 90692659
5USH2ANM_206933.2(USH2A): c.11156G> A (p.Arg3719His)single nucleotide variantLikely pathogenicrs527236139GRCh37Chr 1, 215933077: 215933077
6USH2ANM_206933.2(USH2A): c.12079C> T (p.Gln4027Ter)single nucleotide variantLikely pathogenicrs527236138GRCh37Chr 1, 215853706: 215853706
7USH2ANM_206933.2(USH2A): c.13010C> T (p.Thr4337Met)single nucleotide variantPathogenicrs527236137GRCh37Chr 1, 215848243: 215848243
8USH2ANM_206933.2(USH2A): c.2983C> T (p.Gln995Ter)single nucleotide variantPathogenicrs527236135GRCh37Chr 1, 216405305: 216405305
9USH2ANM_206933.2(USH2A): c.3967delA (p.Met1323Terfs)deletionLikely pathogenicrs527236136GRCh37Chr 1, 216371771: 216371771
10CDH23NM_022124.5(CDH23): c.945+1G> Tsingle nucleotide variantPathogenicrs727502919GRCh37Chr 10, 73375374: 73375374
11CDH23NM_022124.5(CDH23): c.7873-2A> Tsingle nucleotide variantPathogenicrs727502933GRCh37Chr 10, 73565561: 73565561
12ADGRV1NM_032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs)deletionPathogenicrs727503076GRCh37Chr 5, 89977250: 89977250
13MYO7ANM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
14MYO7ANM_000260.3(MYO7A): c.977T> A (p.Leu326Gln)single nucleotide variantLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
15MYO7ANM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)single nucleotide variantLikely pathogenicrs727503329GRCh37Chr 11, 76901883: 76901883
16MYO7ANM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)single nucleotide variantLikely pathogenicrs377670513GRCh37Chr 11, 76922954: 76922954
17NC_000010.11: g.(?_54317271)_(54664277_?)deldeletionPathogenicGRCh37Chr 10, 56077031: 56424037
18USH2ANM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs)deletionPathogenicrs727503715GRCh37Chr 1, 215847879: 215847879
19USH2ANM_206933.2(USH2A): c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp)deletionLikely pathogenicrs727503723GRCh37Chr 1, 216166370: 216166372
20USH2ANM_206933.2(USH2A): c.6398G> A (p.Trp2133Ter)single nucleotide variantPathogenicrs727503725GRCh37Chr 1, 216173832: 216173832
21USH2ANM_206933.2(USH2A): c.4510dupA (p.Arg1504Lysfs)duplicationPathogenicrs727503731GRCh37Chr 1, 216348711: 216348711
22USH2ANM_206933.2(USH2A): c.2541C> A (p.Cys847Ter)single nucleotide variantPathogenicrs727503736GRCh37Chr 1, 216420195: 216420195
23MYO7ANM_000260.3(MYO7A): c.470+1G> Asingle nucleotide variantPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
24MYO7ANM_000260.3(MYO7A): c.73G> A (p.Gly25Arg)single nucleotide variantLikely pathogenicrs782252317GRCh38Chr 11, 77142763: 77142763
25PCDH15NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter)single nucleotide variantPathogenicrs727504301GRCh37Chr 10, 55849814: 55849814
26MYO7ANM_000260.3(MYO7A): c.77C> A (p.Ala26Glu)single nucleotide variantLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
27MYO7ANM_000260.3(MYO7A): c.2863G> A (p.Gly955Ser)single nucleotide variantLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
28MYO7ANM_000260.3(MYO7A)duplicationLikely pathogenicrs111033388GRCh38Chr 11, 77214662: 77214682
29USH2ANM_206933.2(USH2A): c.12295-?_14133+?deldeletionLikely pathogenicGRCh37Chr 1, 215844314: 215848958
30MYO7ANM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)single nucleotide variantLikely pathogenicrs369458838GRCh37Chr 11, 76901818: 76901818
31MYO7ANM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs376764423GRCh37Chr 11, 76919517: 76919517
32USH2ANC_000001.11: g.(?_216292175)_(216327654_?)deldeletionPathogenicGRCh37Chr 1, 216465517: 216500996
33USH2ANM_206933.2(USH2A): c.(?_1645)_(1840_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216465517: 216465712
34MYO7ANM_000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)single nucleotide variantLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
35CDH23NM_022124.5(CDH23): c.1369C> T (p.Arg457Trp)single nucleotide variantLikely pathogenicrs727504455GRCh37Chr 10, 73406294: 73406294
36ADGRV1NM_032119.3(ADGRV1): c.(?_18153)-15_*(15_?)deldeletionPathogenicGRCh37Chr 5, 90368249: 90459732
37MYO7ANM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)single nucleotide variantLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
38USH2ANM_206933.2(USH2A): c.1992dupT (p.Lys665Terfs)duplicationPathogenicrs730880349GRCh37Chr 1, 216424420: 216424420
39MYO7ANM_000260.3(MYO7A): c.689C> T (p.Ala230Val)single nucleotide variantPathogenicrs797044512GRCh37Chr 11, 76868004: 76868004
40MYO7ANM_000260.3(MYO7A): c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs)indelPathogenicrs797044513GRCh37Chr 11, 76900449: 76900456
41USH2ANM_206933.2(USH2A): c.11145T> A (p.Tyr3715Ter)single nucleotide variantPathogenicrs727504608GRCh37Chr 1, 215933088: 215933088
42ADGRV1NM_032119.3(ADGRV1): c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs)deletionPathogenicrs727504644GRCh37Chr 5, 90149199: 90149211
43NM_206933.2(USH2A): c.(?_5299)_(5572_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216251431: 216251704
44NC_000001.11: g.(?_216086719)_(216097213_?)deldeletionPathogenicGRCh37Chr 1, 216260061: 216270555
45CDH23NM_022124.5(CDH23): c.7979_7986delACTGGGAG (p.Asp2660Valfs)deletionPathogenicrs727504761GRCh37Chr 10, 73565669: 73565676
46ADGRV1NM_032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter)single nucleotide variantPathogenicrs727504777GRCh37Chr 5, 90073825: 90073825
47MYO7ANC_000011.10: g.(?_77212952)_(77214696_?)deldeletionPathogenicGRCh37Chr 11, 76923997: 76925741
48NC_000010.11: g.(?_71731987)_(71734281_?)deldeletionPathogenicGRCh37Chr 10, 73491744: 73494038
49USH2ANM_206933.2(USH2A): c.14248C> T (p.Gln4750Ter)single nucleotide variantPathogenicrs727504867GRCh37Chr 1, 215824029: 215824029
50USH2ANM_206933.2(USH2A): c.632G> A (p.Trp211Ter)single nucleotide variantPathogenicrs727504893GRCh37Chr 1, 216591875: 216591875
51USH2ANM_206933.2(USH2A): c.(?_8682)_(8845_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216040349: 216040512
52ADGRV1NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?))deletionPathogenicGRCh37Chr 5, 89953722: 89954095
53MYO7ANM_000260.3(MYO7A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
54ADGRV1NM_032119.3(ADGRV1): c.10060_10063delACAA (p.Thr3354Serfs)deletionPathogenicrs727504978GRCh37Chr 5, 90021372: 90021375
55MYO7ANM_000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh37Chr 11, 76922376: 76922376
56ADGRV1NM_032119.3(ADGRV1): c.5779_5783dupACGAG (p.Ser1928Argfs)duplicationPathogenicrs730880369GRCh38Chr 5, 90683700: 90683704
57MYO7ANM_000260.3(MYO7A): c.287C> T (p.Thr96Met)single nucleotide variantLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
58USH2ANM_206933.2(USH2A): c.11440G> T (p.Gly3814Ter)single nucleotide variantPathogenicrs727505337GRCh37Chr 1, 215916627: 215916627
59USH2ANM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)deletionPathogenicrs727505343GRCh37Chr 1, 216243615: 216243615
60CLRN1NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs)indelLikely pathogenic, Pathogenicrs786204428GRCh37Chr 3, 150690344: 150690347
61CLRN1NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs)duplicationLikely pathogenicrs746523071GRCh37Chr 3, 150645920: 150645920
62PCDH15NM_033056.3(PCDH15): c.3717+1G> Asingle nucleotide variantLikely pathogenicrs748706627GRCh37Chr 10, 55626401: 55626401
63USH2ANM_206933.2(USH2A): c.1214delA (p.Asn405Ilefs)deletionPathogenicrs750228923GRCh37Chr 1, 216497624: 216497624
64ADGRV1NM_032119.3(ADGRV1): c.4702delA (p.Ser1568Valfs)deletionPathogenicrs794727347GRCh37Chr 5, 89954045: 89954045
65NM_206933.2(USH2A): c.5167+1G> Tsingle nucleotide variantPathogenicrs794727408GRCh37Chr 1, 216258039: 216258039
66USH2ANM_206933.2(USH2A): c.6601C> T (p.Gln2201Ter)single nucleotide variantPathogenicrs794727579GRCh37Chr 1, 216172285: 216172285
67ADGRV1NM_032119.3(ADGRV1): c.8204delA (p.Asn2735Metfs)deletionPathogenicrs794727584GRCh37Chr 5, 89999530: 89999530
68NM_022124.5(CDH23): c.146-2A> Gsingle nucleotide variantPathogenicrs794727649GRCh37Chr 10, 73269837: 73269837
69USH2ANM_206933.2(USH2A): c.7595-3C> Gsingle nucleotide variantLikely pathogenicrs201657446GRCh37Chr 1, 216062399: 216062399
70MYO7ANM_000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)single nucleotide variantPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
71USH2ANM_206933.2(USH2A): c.13316C> T (p.Thr4439Ile)single nucleotide variantPathogenicrs753330544GRCh37Chr 1, 215847937: 215847937
72USH2ANM_206933.2(USH2A): c.14502_14503delTC (p.Pro4835Thrfs)deletionPathogenicrs794727830GRCh37Chr 1, 215821949: 215821950
73USH2ANM_206933.2(USH2A): c.12100G> A (p.Glu4034Lys)single nucleotide variantLikely pathogenicrs794729203GRCh37Chr 1, 215853685: 215853685
74USH2ANM_206933.2(USH2A): c.4405C> T (p.Gln1469Ter)single nucleotide variantPathogenicrs797045113GRCh37Chr 1, 216348816: 216348816
75USH2ANM_206933.2(USH2A): c.9827C> G (p.Ser3276Ter)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215972380: 215972380
76USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
77USH2ANM_206933.2(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
78USH2ANM_206933.2(USH2A): c.779T> G (p.Leu260Ter)single nucleotide variantPathogenicrs121912598GRCh37Chr 1, 216538300: 216538300
79USH2ANM_206933.2(USH2A): c.956G> A (p.Cys319Tyr)single nucleotide variantPathogenicrs121912599GRCh37Chr 1, 216498834: 216498834
80USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)single nucleotide variantPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
81USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)single nucleotide variantPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
82USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)single nucleotide variantPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
83DFNB31NM_015404.3(DFNB31): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs137852840GRCh37Chr 9, 117266775: 117266775
84DFNB31DFNB31, IVS2DS, G-A, +1single nucleotide variantPathogenic
85USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
86USH1GNM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs)deletionPathogenicrs730880268GRCh37Chr 17, 72916744: 72916745
87USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
88USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
89USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
90HARSNM_002109.5(HARS): c.1361A> C (p.Tyr454Ser)single nucleotide variantPathogenicrs387906639GRCh37Chr 5, 140054361: 140054361
91USH2ANM_206933.2(USH2A): c.7595-2144A> Gsingle nucleotide variantPathogenicrs786200928GRCh37Chr 1, 216064540: 216064540
92USH2ANM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs)duplicationPathogenicrs786205115GRCh38Chr 1, 216217415: 216217415
93USH2ANM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs)duplicationPathogenicrs786205116GRCh37Chr 1, 216019331: 216019331
94PDZD7NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs)duplicationrisk factorrs587776894GRCh37Chr 10, 102789811: 102789811
95USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
96DFNB31DFNB31, 1-BP DEL, 737CdeletionPathogenic
97DFNB31DFNB31, 1-BP DUP, 680GinsertionPathogenic
98USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
99USH1CUSH1C, IVS16AS, G-T, -1single nucleotide variantPathogenic
100USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
101CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
102MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
103MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
104MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
105MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
106MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
107MYO7ANM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
108MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
109MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
110MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs606231379GRCh37Chr 11, 76873900: 76873900
111MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
112MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
113MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
114MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
115MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
116MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
117MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
118MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
119MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
120MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
121MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
122MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
123MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
124MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
125MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
126MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
127MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
128MYO7ANM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
129MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
130MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
131MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
132MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
133MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
134MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
135MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
136MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
137MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
138MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
139MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
140MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
141MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
142MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
143MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
144MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
145MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
146MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
147MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914144
148MYO7ANM_000260.3(MYO7A): c.5327-11A> Gsingle nucleotide variantLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
149MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
150MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
151MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
152MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
153MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
154MYO7ANM_000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)single nucleotide variantLikely pathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
155MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
156MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
157MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
158MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
159MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
160MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
161MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
162MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
163MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
164MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
165MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
166MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
167MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
168MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
169MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
170MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
171MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
172CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)single nucleotide variantPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
173CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)single nucleotide variantPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
174CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenic
175CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
176CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)single nucleotide variantPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
177CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
178CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenic
179CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)single nucleotide variantPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378
180DFNB31NM_015404.3(DFNB31): c.1267C> T (p.Arg423Ter)single nucleotide variantPathogenicrs397517255GRCh37Chr 9, 117186763: 117186763
181DFNB31NM_015404.3(DFNB31): c.643delG (p.Val215Cysfs)deletionPathogenicrs397517258GRCh37Chr 9, 117241027: 117241027
182CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
183NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
184NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
185NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
186CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
187CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
188CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
189CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
190CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
191CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
192CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
193CDH23NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser)single nucleotide variantLikely pathogenicrs183431253GRCh37Chr 10, 73550170: 73550170
194CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
195CDH23NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs)deletionLikely pathogenicrs111033473GRCh37Chr 10, 73553097: 73553097
196CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
197CDH23NM_022124.5(CDH23): c.7362G> A (p.Thr2454=)single nucleotide variantLikely pathogenicrs370983472GRCh37Chr 10, 73559386: 73559386
198CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
199CDH23NM_022124.5(CDH23): c.7921G> C (p.Asp2641His)single nucleotide variantLikely pathogenicrs397517354GRCh37Chr 10, 73565611: 73565611
200CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
201CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
202ADGRV1NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
203ADGRV1NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter)single nucleotide variantPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
204ADGRV1NM_032119.3(ADGRV1): c.14973-2A> Gsingle nucleotide variantPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
205ADGRV1NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
206ADGRV1NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter)single nucleotide variantPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
207ADGRV1NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940658
208ADGRV1NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
209ADGRV1NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter)single nucleotide variantPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
210ADGRV1NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
211PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
212PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
213PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantLikely pathogenic, Pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
214USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
215CLRN1NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg)single nucleotide variantLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
216CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionLikely pathogenic, Pathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
217CLRN1NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp)single nucleotide variantLikely pathogenic, Pathogenicrs374963432GRCh37Chr 3, 150659434: 150659434
218USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
219USH2ANM_206933.2(USH2A): c.1036A> C (p.Asn346His)single nucleotide variantLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
220USH2ANM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter)single nucleotide variantLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
221USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)single nucleotide variantPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
222USH2ANM_206933.2(USH2A): c.10712C> T (p.Thr3571Met)single nucleotide variantLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
223USH2ANM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)single nucleotide variantLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
224USH2ANM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter)single nucleotide variantLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
225USH2ANM_206933.2(USH2A): c.11048-1G> Asingle nucleotide variantPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
226USH2ANM_206933.2(USH2A): c.11231+1G> Tsingle nucleotide variantLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
227USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
228USH2ANM_206933.2(USH2A): c.1143+1G> Asingle nucleotide variantPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
229USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)single nucleotide variantPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
230USH2ANM_206933.2(USH2A): c.12067-1G> Csingle nucleotide variantPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
231USH2ANM_206933.2(USH2A): c.12295-2A> Gsingle nucleotide variantPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
232USH2ANM_206933.2(USH2A): c.1227G> C (p.Trp409Cys)single nucleotide variantLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
233USH2ANM_206933.2(USH2A): c.12294+1G> Csingle nucleotide variantLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
234USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)single nucleotide variantPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
235USH2ANM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg)single nucleotide variantLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
236USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)single nucleotide variantPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
237USH2ANM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)single nucleotide variantLikely pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
238USH2ANM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter)single nucleotide variantLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
239USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844416: 215844416
240USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)single nucleotide variantPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
241USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)single nucleotide variantPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
242USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)single nucleotide variantPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
243USH2ANM_206933.2(USH2A): c.1841-2A> Gsingle nucleotide variantPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
244USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)single nucleotide variantPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
245USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
246USH2ANM_206933.2(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionPathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
247USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
248USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
249NM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258206: 216258206
250NM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser)single nucleotide variantLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
251NM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)single nucleotide variantPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
252NM_206933.2(USH2A): c.5857+2T> Csingle nucleotide variantPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
253USH2ANM_206933.2(USH2A): c.5858-1G> Asingle nucleotide variantPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
254USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)single nucleotide variantPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
255USH2ANM_206933.2(USH2A): c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
256USH2ANM_206933.2(USH2A): c.653T> A (p.Val218Glu)single nucleotide variantLikely pathogenicrs397518026GRCh37Chr 1, 216538426: 216538426
257USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)single nucleotide variantPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
258USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)single nucleotide variantPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
259USH2ANM_206933.2(USH2A): c.8431C> A (p.Pro2811Thr)single nucleotide variantLikely pathogenicrs111033529GRCh37Chr 1, 216052233: 216052233
260USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
261USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)single nucleotide variantPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
262USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)single nucleotide variantPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
263USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
264USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)single nucleotide variantPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
265USH2ANM_206933.2(USH2A): c.9371+1G> Csingle nucleotide variantPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
266USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)single nucleotide variantPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
267USH2ANM_206933.2(USH2A): c.9799T> C (p.Cys3267Arg)single nucleotide variantLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408
268CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
269NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del)deletionPathogenicrs796051860GRCh37Chr 10, 73491870: 73491872
270CDH23NM_022124.5(CDH23): c.7362+5G> Asingle nucleotide variantPathogenicrs727502931GRCh37Chr 10, 73559391: 73559391
271NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
272NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh38Chr 10, 71510129: 71510129
273PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
274PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
275PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
276PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
277PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
278PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)single nucleotide variantPathogenicrs137853004GRCh37Chr 10, 55849801: 55849801
279USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
280USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
281USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
282USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
283USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
284USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
285USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815
286PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960
287ADGRV1NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)single nucleotide variantPathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
288ADGRV1NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs)duplicationPathogenicrs796051863GRCh38Chr 5, 90706377: 90706380
289ADGRV1NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs)deletionPathogenicrs796051864GRCh38Chr 5, 90708875: 90708875
290ADGRV1NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs)deletionPathogenicrs796051865GRCh38Chr 5, 91153328: 91153346
291ADGRV1NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys)single nucleotide variantPathogenicrs121909763GRCh37Chr 5, 90281318: 90281318
292ADGRV1NG_007083.1: g.371658_507674deldeletionPathogenicGRCh38Chr 5, 90925457: 91061473
293ADGRV1NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs)deletionPathogenicrs796051866GRCh38Chr 5, 90642653: 90642665
294ADGRV1NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs)deletionPathogenicrs796051867GRCh37Chr 5, 89971940: 89971941
295MT-TS2m.12258C> Asingle nucleotide variantPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Expression for genes affiliated with Usher Syndrome

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Search GEO for disease gene expression data for Usher Syndrome.

Pathways for genes affiliated with Usher Syndrome

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GO Terms for genes affiliated with Usher Syndrome

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Cellular components related to Usher Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1stereocilia ankle link complexGO:000214210.6DFNB31, USH2A
2stereocilia ankle linkGO:000214110.5DFNB31, PDZD7
3photoreceptor outer segmentGO:000175010.5CIB2, MYO7A, PCDH15, USH1C
4periciliary membrane compartmentGO:199007510.5DFNB31, USH2A
5ciliary basal bodyGO:003606410.4DFNB31, USH1G, USH2A
6photoreceptor connecting ciliumGO:003239110.4DFNB31, MYO7A, USH1G, USH2A
7USH2 complexGO:199069610.3DFNB31, PDZD7, USH2A
8stereocilium bundleGO:003242110.3DFNB31, USH2A
9photoreceptor inner segmentGO:000191710.2CIB2, DFNB31, MYO7A, USH1C, USH1G, USH2A
10synapseGO:004520210.1ADGRV1, MYO7A, PCDH15, USH1C
11stereociliumGO:00324209.8ADGRV1, CDH23, CIB2, DFNB31, MYO7A, PCDH15

Biological processes related to Usher Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1maintenance of organ identityGO:004849610.8ADGRV1, USH2A
2auditory receptor cell developmentGO:006011710.8CLRN1, PDZD7
3detection of mechanical stimulus involved in sensory perception of soundGO:005091010.7PCDH15, PDZD7
4auditory receptor cell stereocilium organizationGO:006008810.6CLRN1, MYO7A, PCDH15, PDZD7
5adult walking behaviorGO:000762810.6ABHD12, PCDH15
6response to stimulusGO:005089610.5CDH23, CLRN1, USH2A
7inner ear receptor cell differentiationGO:006011310.5MYO7A, USH1G, USH2A
8equilibrioceptionGO:005095710.4CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
9establishment of protein localizationGO:004518410.4DFNB31, PDZD7, USH2A
10auditory receptor cell differentiationGO:004249110.3MYO7A, PCDH15, USH1C
11inner ear morphogenesisGO:004247210.2MYO7A, USH1C, USH1G
12inner ear receptor stereocilium organizationGO:006012210.2DFNB31, MYO7A, PCDH15, USH1C, USH1G
13photoreceptor cell maintenanceGO:004549410.0ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C
14visual perceptionGO:00076019.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH2A
15sensory perception of light stimulusGO:00509539.8ADGRV1, CDH23, CLRN1, DFNB31, MYO7A, PCDH15
16sensory perception of soundGO:00076059.3ADGRV1, CDH23, CLRN1, DFNB31, MYO7A, PCDH15

Molecular functions related to Usher Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:003050710.7MYO7A, USH1C, USH1G
2protein homodimerization activityGO:00428039.9CIB2, DFNB31, MYO7A, PDZD7, USH1G, USH2A
3calcium ion bindingGO:00055099.9ADGRV1, CDH23, CIB2, EML1, PCDH15

Sources for Usher Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet