USH2
MCID: USH035
MIFTS: 48

Usher Syndrome Type 2 (USH2)

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

Aliases & Classifications for Usher Syndrome Type 2

MalaCards integrated aliases for Usher Syndrome Type 2:

Name: Usher Syndrome Type 2 12 58 29 6 15
Ush2 12 24 58
Usher Syndrome, Type Ii 39
Usher Syndrome Type Ii 24

Characteristics:

Orphanet epidemiological data:

58
usher syndrome type 2
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy;

GeneReviews:

24
Penetrance Penetrance is 100% in ush2.

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110827
MeSH 43 D052245
NCIt 49 C126328
SNOMED-CT 67 232058008
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339534 C1568249
Orphanet 58 ORPHA231178
UMLS 71 C0339534 C1568249

Summaries for Usher Syndrome Type 2

Disease Ontology : 12 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.

MalaCards based summary : Usher Syndrome Type 2, also known as ush2, is related to usher syndrome, type iia and usher syndrome, type ig. An important gene associated with Usher Syndrome Type 2 is USH2A (Usherin). Affiliated tissues include eye, retina and cerebellum, and related phenotypes are sensorineural hearing impairment and abnormal electroretinogram

GeneReviews: NBK1341

Related Diseases for Usher Syndrome Type 2

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iia 32.8 WHRN USH2A USH1C PDZD7 PCDH15 PCARE
2 usher syndrome, type ig 32.6 WHRN USH1G USH1C PCDH15 CDH23
3 usher syndrome, type ic 32.5 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
4 usher syndrome, type iiib 32.3 WHRN USH2A USH1G USH1C PCDH15 MYO7A
5 usher syndrome, type iid 32.2 WHRN VEZT USH2A USH1G USH1C PDZD7
6 usher syndrome, type iic 32.1 WHRN VEZT USH2A USH1G USH1C PDZD7
7 usher syndrome, type ij 31.9 WHRN USH2A USH1G USH1C PDZD7 PCDH15
8 retinitis pigmentosa-deafness syndrome 31.7 WHRN HARS1 CDH23
9 usher syndrome, type if 31.6 WHRN VEZT USH2A USH1G USH1C PDZD7
10 usher syndrome, type id 31.6 WHRN VEZT USH2A USH1G USH1C PDZD7
11 usher syndrome, type i 31.5 WHRN VEZT USH2A USH1G USH1C RPGR
12 usher syndrome, type iiia 31.5 WHRN VEZT USH2A USH1G USH1C PDZD7
13 nonsyndromic deafness 31.2 PCDH15 MYO15A
14 nonsyndromic retinitis pigmentosa 31.1 USH2A CLRN1
15 branchiootic syndrome 1 31.0 WHRN USH2A USH1G MYO7A CDH23
16 nonsyndromic hearing loss 30.8 USH2A PCDH15 MYO7A MYO15A CDH23
17 yemenite deaf-blind hypopigmentation syndrome 30.8 USH2A RPGR MYO7A
18 retinitis pigmentosa 39 30.7 USH2A-AS2 USH2A RPGR
19 deafness, autosomal recessive 31 30.7 WHRN USH2A PDZD7 PCARE CLRN1 CIB2
20 retinal degeneration 30.4 USH2A USH1C RPGR PCARE MYO7A CDH23
21 inherited retinal disorder 30.1 USH2A USH1C RPGR PCDH15 PCARE MYO7A
22 retinal disease 30.1 USH2A USH1G USH1C RPGR PDZD7 PCDH15
23 usher syndrome 30.0 WHRN USH2A-AS2 USH2A USH1G USH1C RPGR
24 sensorineural hearing loss 30.0 WHRN USH2A USH1G USH1C PDZD7 PCDH15
25 fundus dystrophy 29.6 WHRN USH2A USH1G USH1C RPGR PDZD7
26 retinitis pigmentosa 29.6 WHRN USH2A-AS2 USH2A USH1G USH1C RPGR
27 usher syndrome, type 1m 11.3
28 deafness, autosomal recessive 3 10.7 MYO7A MYO15A
29 deafness, autosomal dominant 1 10.6 MYO7A MYO15A ESPN
30 dfnb1 10.6 PCDH15 MYO7A
31 deafness, autosomal dominant 65 10.6 WHRN PCDH15
32 deafness, autosomal dominant 6 10.6 MYO7A CDH23
33 y-linked monogenic disease 10.6 PCDH15 CDH23
34 deafness, autosomal dominant 56 10.6 WHRN USH2A
35 non-syndromic genetic deafness 10.6 USH2A MYO15A
36 deafness, autosomal recessive 102 10.6 WHRN MYO15A
37 chronic pain 10.6 USH2A-AS2 USH2A
38 acute hemorrhagic leukoencephalitis 10.6 USH1G MYO7A CDH23
39 deafness, autosomal recessive 62 10.6 CDH23 ADGRV1
40 deafness, autosomal recessive 86 10.6 WHRN PCDH15 CDH23
41 deafness, autosomal recessive 100 10.6 MYO7A ADGRV1
42 deafness, autosomal recessive 67 10.6 PCDH15 CIB2
43 deafness, autosomal recessive 83 10.6 MYO7A MYO15A CDH23
44 deafness, autosomal dominant 48 10.6 MYO7A MYO15A CIB2
45 choroid disease 10.5 USH2A RPGR MYO7A
46 deafness, autosomal recessive 7 10.5 MYO7A MYO15A CDH23
47 deafness, autosomal dominant 36 10.5 PCDH15 MYO15A CDH23
48 deafness, autosomal recessive 57 10.5 WHRN USH1C PDZD7 CIB2
49 bietti crystalline corneoretinal dystrophy 10.5 RPGR PDZD7 CLRN1
50 pendred syndrome 10.5 MYO7A MYO15A CDH23

Graphical network of the top 20 diseases related to Usher Syndrome Type 2:



Diseases related to Usher Syndrome Type 2

Symptoms & Phenotypes for Usher Syndrome Type 2

Human phenotypes related to Usher Syndrome Type 2:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
4 scotoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000575
5 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
6 hemianopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012377
7 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
8 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
11 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
12 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
13 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
14 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
15 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
16 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
17 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
18 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
19 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
20 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
21 abnormality of dental color 58 31 occasional (7.5%) Occasional (29-5%) HP:0011073
22 subcortical cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012157
23 abnormality of the inner ear 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Usher Syndrome Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
2 hearing/vestibular/ear MP:0005377 10.03 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
3 nervous system MP:0003631 9.89 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
4 vision/eye MP:0005391 9.5 ADGRV1 CDH23 CEP250 CIB2 CLRN1 MYO15A

Drugs & Therapeutics for Usher Syndrome Type 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
2 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347

Search NIH Clinical Center for Usher Syndrome Type 2

Genetic Tests for Usher Syndrome Type 2

Genetic tests related to Usher Syndrome Type 2:

# Genetic test Affiliating Genes
1 Usher Syndrome Type 2 29

Anatomical Context for Usher Syndrome Type 2

MalaCards organs/tissues related to Usher Syndrome Type 2:

40
Eye, Retina, Cerebellum, Brain

Publications for Usher Syndrome Type 2

Articles related to Usher Syndrome Type 2:

(show top 50) (show all 187)
# Title Authors PMID Year
1
Non-USH2A mutations in USH2 patients. 24 6 61
22147658 2012
2
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 24 6 61
22009552 2012
3
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 61 6 24
18854872 2009
4
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 61 6 24
19357116 2009
5
GPR98 mutations cause Usher syndrome type 2 in males. 24 61 6
19357117 2009
6
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 61 24 6
17405132 2007
7
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 24 6 61
17171570 2007
8
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 61 6 24
14740321 2004
9
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 24 6
20440071 2010
10
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 24 6
15015129 2004
11
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 24 6
10729113 2000
12
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 24 6
9624053 1998
13
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 6 61
19881469 2009
14
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 6 61
18665195 2009
15
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 6 61
17296898 2007
16
Mutational spectrum in Usher syndrome type II. 61 6
15025721 2004
17
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 6
29048736 2018
18
Partial USH2A deletions contribute to Usher syndrome in Denmark. 61 24
25804404 2015
19
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24 61
24944099 2014
20
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 61 24
25558175 2014
21
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. 61 24
23441107 2013
22
Audiological findings in 100 USH2 patients. 24 61
21895633 2012
23
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 24 61
22135276 2012
24
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
25
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 61 24
21593743 2011
26
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 24 61
21569298 2011
27
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. 24 61
21212183 2011
28
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 24 61
21686329 2011
29
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. 24 61
20502675 2010
30
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. 24 61
20352026 2010
31
Identification of candidate regions for a novel Usher syndrome type II locus. 61 24
18806881 2008
32
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. 24 61
18452394 2008
33
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 24 61
18273898 2008
34
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. 24 61
17906286 2008
35
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. 24 61
16545802 2006
36
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. 24 61
16098008 2005
37
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 61 24
15671307 2005
38
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 24 61
15325563 2004
39
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 61 24
12112664 2002
40
Prevalence and geographical distribution of Usher syndrome in Germany. 24 61
12107518 2002
41
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 6
11402400 2001
42
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. 61 24
10738000 2000
43
Usher Syndrome Type II 6
20301515 1999
44
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 6
10234513 1999
45
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. 6
10090909 1999
46
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 24
25404053 2014
47
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 24
25333064 2014
48
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. 24
23924366 2013
49
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. 24
22842402 2012
50
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 24
22279524 2012

Variations for Usher Syndrome Type 2

ClinVar genetic disease variations for Usher Syndrome Type 2:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)duplication Pathogenic 552849 rs1553258097 1:216595439-216595440 1:216422097-216422098
2 ADGRV1 NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)SNV Pathogenic 695021 5:90025490-90025490 5:90729673-90729673
3 ADGRV1 NM_032119.4(ADGRV1):c.17974-1G>CSNV Pathogenic 695022 5:90281160-90281160 5:90985343-90985343
4 USH2A NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)SNV Pathogenic 812448 1:215844424-215844424 1:215671082-215671082
5 USH2A NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)deletion Pathogenic 812450 1:215853671-215853671 1:215680329-215680329
6 USH2A NM_206933.4(USH2A):c.10211del (p.Pro3404fs)deletion Pathogenic 812452 1:215960188-215960188 1:215786846-215786846
7 USH2A NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)SNV Pathogenic 812455 1:216251484-216251484 1:216078142-216078142
8 ADGRV1 NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)deletion Pathogenic 812215 5:90059126-90059126 5:90763309-90763309
9 ADGRV1 NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)deletion Pathogenic 812216 5:90106570-90106570 5:90810753-90810753
10 USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
11 USH2A NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)SNV Pathogenic 2361 rs111033334 1:216420527-216420527 1:216247185-216247185
12 USH2A NM_206933.3(USH2A):c.7595-2144A>GSNV Pathogenic 30722 rs786200928 1:216064540-216064540 1:215891198-215891198
13 USH2A NM_206933.4(USH2A):c.12067-2A>GSNV Pathogenic 48390 rs397517978 1:215853720-215853720 1:215680378-215680378
14 USH2A NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)SNV Pathogenic 48626 rs397518048 1:215990485-215990485 1:215817143-215817143
15 ADGRV1 NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)SNV Pathogenic 76051 rs267600727 5:90016807-90016807 5:90720990-90720990
16 USH2A NM_206933.4(USH2A):c.5776+1G>ASNV Pathogenic 228414 rs876657731 1:216246438-216246438 1:216073096-216073096
17 USH2A NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)SNV Pathogenic/Likely pathogenic 228411 rs397517963 1:216498790-216498790 1:216325448-216325448
18 USH2A NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)SNV Pathogenic/Likely pathogenic 48592 rs111033280 1:216500979-216500979 1:216327637-216327637
19 USH2A NM_206933.3(USH2A):c.8558+1G>TSNV Pathogenic/Likely pathogenic 555522 rs770383273 1:216052105-216052105 1:215878763-215878763
20 ADGRV1 NM_032119.4(ADGRV1):c.14973-2A>GSNV Pathogenic/Likely pathogenic 46275 rs371981035 5:90106048-90106048 5:90810231-90810231
21 USH2A NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)SNV Likely pathogenic 812459 1:216424303-216424303 1:216250961-216250961
22 USH2A NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)SNV Likely pathogenic 812460 1:216462737-216462737 1:216289395-216289395
23 USH2A NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)SNV Likely pathogenic 812454 1:216040473-216040473 1:215867131-215867131
24 USH2A NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter)SNV Likely pathogenic 552628 rs1553250184 1:215822028-215822028 1:215648686-215648686
25 USH2A NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln)SNV Conflicting interpretations of pathogenicity 552304 rs758303489 1:216498789-216498789 1:216325447-216325447
26 USH2A NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp)SNV Conflicting interpretations of pathogenicity 143179 rs201527662 1:216419934-216419934 1:216246592-216246592
27 USH2A NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)SNV Uncertain significance 812461 1:216465517-216465517 1:216292175-216292175
28 ADGRV1 NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)SNV Uncertain significance 46290 rs200789563 5:89925235-89925235 5:90629418-90629418
29 ADGRV1 NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)SNV Uncertain significance 46404 rs200792658 5:90012539-90012539 5:90716722-90716722

Expression for Usher Syndrome Type 2

Search GEO for disease gene expression data for Usher Syndrome Type 2.

Pathways for Usher Syndrome Type 2

GO Terms for Usher Syndrome Type 2

Cellular components related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 WHRN USH2A USH1G USH1C RPGR PCDH15
2 plasma membrane GO:0005886 10.36 WHRN VEZT USH2A USH1G USH1C PDZD7
3 cell projection GO:0042995 10.21 WHRN VEZT USH2A USH1C RPGR PDZD7
4 cytoskeleton GO:0005856 10.11 USH1G USH1C RPGR MYO7A MYO15A ESPN
5 cilium GO:0005929 10.02 WHRN RPGR PDZD7 PCARE CIB2 CEP250
6 ciliary basal body GO:0036064 9.92 WHRN USH2A USH1G RPGR CEP250
7 photoreceptor outer segment GO:0001750 9.87 USH1C RPGR PCDH15 PCARE MYO7A CIB2
8 actin cytoskeleton GO:0015629 9.86 USH1G MYO7A MYO15A ESPN
9 photoreceptor connecting cilium GO:0032391 9.85 WHRN USH2A USH1G USH1C PDZD7 MYO7A
10 microvillus GO:0005902 9.84 USH1C MYO7A ESPN CLRN1
11 stereocilium tip GO:0032426 9.78 WHRN USH1C PDZD7 ESPN
12 stereocilium bundle GO:0032421 9.76 WHRN USH2A MYO15A ESPN
13 USH2 complex GO:1990696 9.71 WHRN USH2A PDZD7 ADGRV1
14 periciliary membrane compartment GO:1990075 9.69 WHRN USH2A ADGRV1
15 stereocilium membrane GO:0060171 9.67 VEZT USH2A ADGRV1
16 stereocilia ankle link GO:0002141 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
17 photoreceptor inner segment GO:0001917 9.65 WHRN USH2A USH1G USH1C PDZD7 PCARE
18 stereocilia ankle link complex GO:0002142 9.63 WHRN VEZT USH2A USH1C PDZD7 ADGRV1
19 stereocilium GO:0032420 9.36 WHRN USH1C PDZD7 PCDH15 MYO7A MYO15A

Biological processes related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.02 USH2A RPGR PCARE CLRN1 CDH23 ADGRV1
2 visual perception GO:0007601 10.01 USH2A RPGR PCDH15 PCARE MYO7A CLRN1
3 actin filament organization GO:0007015 9.86 PCDH15 MYO7A MYO15A CLRN1
4 locomotory behavior GO:0007626 9.84 PCDH15 MYO15A ESPN CDH23
5 inner ear morphogenesis GO:0042472 9.83 USH1G USH1C MYO7A MYO15A
6 establishment of protein localization GO:0045184 9.8 WHRN USH2A PDZD7 ADGRV1
7 equilibrioception GO:0050957 9.8 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
8 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C PCDH15 MYO7A CDH23
9 auditory receptor cell stereocilium organization GO:0060088 9.77 WHRN PDZD7 PCDH15 MYO7A CLRN1
10 inner ear development GO:0048839 9.76 PCDH15 MYO7A ADGRV1
11 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.76 WHRN PDZD7 PCDH15 ADGRV1
12 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
13 inner ear auditory receptor cell differentiation GO:0042491 9.73 USH1C PDZD7 PCDH15 MYO7A
14 inner ear receptor cell development GO:0060119 9.69 WHRN USH1C PDZD7
15 inner ear receptor cell differentiation GO:0060113 9.65 USH2A USH1G MYO7A
16 vesicle transport along actin filament GO:0030050 9.61 MYO7A MYO15A
17 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
18 positive regulation of protein localization to centrosome GO:1904781 9.6 GSK3B CEP250
19 auditory receptor cell development GO:0060117 9.59 PDZD7 CLRN1
20 maintenance of animal organ identity GO:0048496 9.58 USH2A ADGRV1
21 parallel actin filament bundle assembly GO:0030046 9.57 USH1C ESPN
22 sensory perception of sound GO:0007605 9.4 WHRN USH2A USH1G USH1C PDZD7 PCDH15

Molecular functions related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO15A
2 actin filament binding GO:0051015 9.26 USH1C MYO7A MYO15A ESPN
3 myosin binding GO:0017022 9.16 VEZT USH2A
4 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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