MCID: USH001
MIFTS: 52

Usher Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 30ICD10 via Orphanet, 34LifeMap Discovery®, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome:

Name: Usher Syndrome 11 70 47 24 25 53 49 37 13 34 67
Retinitis Pigmentosa-Deafness Syndrome 25 53
Deafness-Retinitis Pigmentosa Syndrome 47 25
Graefe-Usher Syndrome 47 25
Hallgren Syndrome 47 25
 
Usher's Syndrome 47 25
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 47
Usher Syndromes 38
Ush 53

Characteristics:

Orphanet epidemiological data:

53
usher syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide),1-9/100000 (Denmark),1-9/100000 (Germany),1-9/100000 (United Kingdom),1-9/100000 (Norway),1-9/100000 (Spain),1-9/100000 (Finland),1-9/100000 (United States),1-9/100000 (Colombia); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0050439
MeSH38 D052245
NCIt44 C85217
Orphanet53 ORPHA886
SNOMED-CT61 57838006, 73119000
UMLS via Orphanet68 C0271097
MESH via Orphanet39 D052245
ICD10 via Orphanet30 H35.5
UMLS67 C0271097, C1568248, C1568249 C2931205, more

Summaries for Usher Syndrome

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MedlinePlus:37 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 retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type 2a and usher syndrome, type 1b, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome is MT-TS2 (Mitochondrially Encoded TRNA Serine 2 (AGU/C)). Affiliated tissues include retina, eye and testes, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Disease Ontology:11 A syndrome characterized by a combination of hearing loss and visual impairment.

Genetics Home Reference:25 Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. 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, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.

Wikipedia:70 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... 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 74)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a33.3PDZD7, USH2A
2usher syndrome, type 1b12.4
3usher syndrome, type 3a12.4
4usher syndrome, type 1d12.4
5usher syndrome, type 1c12.3
6usher syndrome, type 1f12.3
7usher syndrome, type 2c12.3
8usher syndrome, type 1g12.3
9usher syndrome, type 2d12.2
10usher syndrome type 3b12.2
11usher syndrome, type ij12.2
12usher syndrome, type ik12.0
13osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome12.0
14usher syndrome type ii12.0
15usher syndrome type 1j11.8
16usher syndrome type 1k11.8
17usher syndrome type 1h11.7
18usher syndrome, type 2b11.7
19pemphigus erythematosus11.5
20retinitis pigmentosa11.2
21alstrom syndrome10.8
22retinitis pigmentosa-deafness syndrome10.7
23retinitis10.4
24continuous spike-wave during slow sleep syndrome10.2MYO7A, PCDH15
25deafness, autosomal recessive 18a10.1MYO7A, USH1C, USH1G
26deafness, autosomal recessive 1210.1CDH23, PCDH15, USH1C
27pemphigus10.0
28hyperimmunoglobulin syndrome10.0CDH23, MYO7A, USH1C
29deafness, autosomal recessive 239.9MYO7A, PCDH15, USH1C, USH1G
30nonsyndromic deafness9.9
31uveitis9.9
32retinal disease9.9
33retinal degeneration9.9
34trichohepatoenteric syndrome 19.9ADGRV1, PDZD7
35vapb-related amyotrophic lateral sclerosis9.9CIB2, MYO7A, WHRN
36pyelitis9.9CDH23, MYO7A, PCDH15, USH1C
37choroideremia9.9
38porokeratosis 9, multiple types9.8ADGRV1, MYO7A, PCDH15, USH2A
39bipolar disorder9.8
40ciliopathy9.8
41sensorineural hearing loss9.8
42lupus erythematosus9.8
43fuchs' heterochromic uveitis9.8
44pierre robin syndrome9.7CDH23, MYO7A, PCDH15, USH1C, USH1G
45retinitis pigmentosa 619.7CLRN1, HARS, MT-TS2
46ovarian embryonal carcinoma9.6MYO7A, PCDH15, PDZD7, USH2A
47schizophrenia9.6
48asthma9.6
49charge syndrome9.6
50cataract9.6

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



Diseases related to usher syndrome

Symptoms for Usher Syndrome

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Human phenotypes related to Usher Syndrome:

 63 53 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
3 abnormal electroretinogram63 53 hallmark (90%) Very frequent (99-80%) HP:0000512
4 nyctalopia63 hallmark (90%) HP:0000662
5 visual field defect63 53 hallmark (90%) Very frequent (99-80%) HP:0001123
6 abnormality of retinal pigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007703
7 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
8 hypermetropia63 typical (50%) HP:0000540
9 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
10 incoordination63 typical (50%) HP:0002311
11 cognitive impairment63 53 typical (50%) Frequent (79-30%) HP:0100543
12 decreased fertility63 53 occasional (7.5%) Occasional (29-5%) HP:0000144
13 tinnitus63 53 occasional (7.5%) Occasional (29-5%) HP:0000360
14 astigmatism63 53 occasional (7.5%) Occasional (29-5%) HP:0000483
15 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
16 carious teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000670
17 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
18 microdontia63 53 occasional (7.5%) Occasional (29-5%) HP:0000691
19 hallucinations63 53 occasional (7.5%) Occasional (29-5%) HP:0000738
20 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
21 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
22 myopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0003198
23 emg abnormality63 53 occasional (7.5%) Occasional (29-5%) HP:0003457
24 aplasia/hypoplasia of the cerebellum63 53 occasional (7.5%) Occasional (29-5%) HP:0007360
25 hyperacusis63 53 occasional (7.5%) Occasional (29-5%) HP:0010780
26 abnormality of cardiovascular system physiology63 53 occasional (7.5%) Occasional (29-5%) HP:0011025
27 abnormality of dental color63 53 occasional (7.5%) Occasional (29-5%) HP:0011073
28 progressive visual loss53 Very frequent (99-80%)
29 blindness53 Very frequent (99-80%)
30 night blindness53 Very frequent (99-80%)
31 psychosis53 Occasional (29-5%)
32 depression53 Occasional (29-5%)
33 anxiety53 Occasional (29-5%)
34 ataxia53 Frequent (79-30%)
35 vestibular dysfunction53 Very frequent (99-80%)
36 high-grade hypermetropia53 Frequent (79-30%)
37 vestibular areflexia53 Very frequent (99-80%)

UMLS symptoms related to Usher Syndrome:


coughing, snoring, sore throat, vertigo/dizziness, equilibration disorder

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 AcidNutraceutical969

Interventional clinical trials:

(show all 13)
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 PigmentosaActive, not recruitingNCT01530659Phase 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
4Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in EuropeUnknown statusNCT01954953
5A Genetic Analysis of Usher Syndrome in Ashkenazi JewsCompletedNCT00016471
6Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
7Molecular Genetics of Retinal DegenerationsCompletedNCT00231010
8Two Approaches to Routine HIV Testing in a Hospital Emergency DepartmentCompletedNCT01258582
9Two Approaches to Routine HIV Testing in a Hospital Emergency DepartmentCompletedNCT00502944
10Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
11Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
12Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
13Study 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 Syndrome24

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

35
Retina, Eye, Testes, Cerebellum, Bone

Animal Models for Usher Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.1ADGRV1, CDH23, CIB2, CLRN1, EML1, MYO7A
2MP:00053776.9ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
3MP:00036316.2ADGRV1, CDH23, CIB2, CLRN1, EML1, MYO7A
4MP:00053916.0ADGRV1, CDH23, CLRN1, EML1, MYO7A, PCDH15

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50)    (show all 433)
idTitleAuthorsYear
1
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. (28082366)
2017
2
Partial USH2A deletions contribute to Usher syndrome in Denmark. (26559128)
2015
3
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. (26022370)
2015
4
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. (26309859)
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
Nongranulomatous anterior uveitis in a patient with Usher syndrome. (24371428)
2013
7
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II. (23526569)
2013
8
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (22690115)
2012
9
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. (22185901)
2012
10
Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. (22661463)
2012
11
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. (22938382)
2012
12
Structures of usher syndrome 1 proteins and their complexes. (22311968)
2012
13
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
14
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
15
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. (21569298)
2011
16
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. (22219650)
2011
17
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
18
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
19
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (20440071)
2010
20
Usher syndrome in Puerto Rico: a clinical and genetic study. (21766549)
2010
21
Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B. (19643958)
2010
22
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
23
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. (19028668)
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
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. (18429043)
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
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. (17085681)
2006
29
Genetic heterogeneity in Usher syndrome. (15368488)
2004
30
Kinetics of visual field loss in Usher syndrome Type II. (14985291)
2004
31
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. (15043528)
2004
32
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. (12112664)
2002
33
Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. (11431456)
2001
34
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. (11311042)
2001
35
Identification of Usher syndrome subtypes by ERG implicit time. (11687556)
2001
36
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (11060213)
2000
37
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. (10234513)
1999
38
Molecular genetics of Usher syndrome. (11212353)
1999
39
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
40
Volumetric neuroimaging in Usher syndrome: evidence of global involvement. (9738858)
1998
41
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (9002678)
1997
42
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. (9002666)
1997
43
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
44
Multiple sebaceous hyperplasia in a patient with Senear-Usher syndrome under immunosuppressive therapy. (8675833)
1996
45
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
46
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (7568224)
1995
47
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. (8474110)
1993
48
Usher Syndrome Type I (20301442)
1993
49
Usher syndrome in four hard-of-hearing siblings. (714590)
1978
50
Senear-Usher syndrome and internal malignancy. (4557734)
1972

Variations for Usher Syndrome

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Clinvar genetic disease variations for Usher Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYO7ANM_000260.3(MYO7A): c.4805G> A (p.Arg1602Gln)SNVPathogenicrs139889944GRCh37Chr 11, 76910816: 76910816
2CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)SNVPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
3CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)SNVLikely pathogenic, Pathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
4ADGRV1NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)SNVLikely pathogenic, Pathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
5MT-TS2m.12258C> ASNVPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Copy number variations for Usher Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
144193105330000082000000Deletion,duplicationPCDH15Usher syndrome
244195105330000098000000Deletion,duplicationCDH23Usher syndrome
344196117651695776603934Deletion,duplicationMYO7AUsher syndrome
444198111747201717522539Deletion,duplicationUSH1CUsher syndrome
544199177042377070430946Deletion,duplicationUSH1GUsher syndrome
659431117520000077100000Copy numberMYO7AUsher syndrome

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 12)
idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.0CLRN1, MYO7A, USH1C
2stereocilia ankle link complexGO:00021429.9USH2A, WHRN
3periciliary membrane compartmentGO:19900759.9USH2A, WHRN
4photoreceptor outer segmentGO:00017509.5CIB2, MYO7A, PCDH15, USH1C
5ciliary basal bodyGO:00360649.5USH1G, USH2A, WHRN
6stereocilia ankle linkGO:00021419.4PDZD7, USH2A, WHRN
7USH2 complexGO:19906969.4PDZD7, USH2A, WHRN
8photoreceptor connecting ciliumGO:00323919.3MYO7A, USH1G, USH2A, WHRN
9synapseGO:00452029.2ADGRV1, MYO7A, PCDH15, USH1C
10stereocilium bundleGO:00324219.1PCDH15, USH2A, WHRN
11photoreceptor inner segmentGO:00019177.7CIB2, MYO7A, USH1C, USH1G, USH2A, WHRN
12stereociliumGO:00324207.6ADGRV1, CDH23, CIB2, MYO7A, PCDH15, USH1C

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.4ADGRV1, USH2A
2auditory receptor cell differentiationGO:004249110.4MYO7A, PCDH15
3detection of mechanical stimulus involved in sensory perception of soundGO:005091010.0PCDH15, PDZD7
4inner ear developmentGO:004883910.0MYO7A, PCDH15
5inner ear receptor cell differentiationGO:00601139.9MYO7A, USH1G, USH2A
6auditory receptor cell stereocilium organizationGO:00600889.8MYO7A, PCDH15, PDZD7
7response to stimulusGO:00508969.6CDH23, CLRN1, USH2A
8equilibrioceptionGO:00509579.0CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
9establishment of protein localizationGO:00451849.0PDZD7, USH2A, WHRN
10inner ear receptor stereocilium organizationGO:00601228.7CDH23, MYO7A, PCDH15, USH1G, WHRN
11visual perceptionGO:00076018.2ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH2A
12photoreceptor cell maintenanceGO:00454947.7ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C
13sensory perception of light stimulusGO:00509537.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
14sensory perception of soundGO:00076057.1ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:00305079.8MYO7A, USH1C, USH1G
2calcium ion bindingGO:00055098.0ADGRV1, CDH23, CIB2, EML1, PCDH15
3protein homodimerization activityGO:00428037.8CIB2, MYO7A, PDZD7, USH1G, USH2A, WHRN

Sources for Usher Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet