MCID: USH032
MIFTS: 36

Usher Syndrome, Type 2a malady

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

Aliases & Classifications for Usher Syndrome, Type 2a

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Aliases & Descriptions for Usher Syndrome, Type 2a:

Name: Usher Syndrome, Type 2a 50 12
Ush2a 46 23 68
Usher's Syndrome Type 2a 68 25
Usher Syndrome Type 2a 46 23
Retinal Disease in Usher Syndrome Type Iia, Modifier of 50
Usher Syndrome, Type Iia 66
 
Usher Syndrome Type Iia 68
Usher Syndrome 2a 68
Ushiia 68
Ush2 46
Us2 46

Characteristics:

HPO:

62
usher syndrome, type 2a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276901
MedGen35 C1848634
MeSH37 D052245

Summaries for Usher Syndrome, Type 2a

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OMIM:50 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by... (276901) more...

MalaCards based summary: Usher Syndrome, Type 2a, also known as ush2a, is related to usher syndrome and herpes simplex, and has symptoms including rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 2a is USH2A (Usherin). Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:46 Usher syndrome type 2a is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. vision loss is due to retinitis pigmentosa. 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 front surface of the eye (cataracts). hearing loss ranges from mild to severe and mainly affects high tones. the degree of hearing loss varies within and among families with this condition. unlike other forms of usher syndrome, people with type 2a do not have difficulties with balance caused by inner ear problems. usher syndrome type 2a is caused by mutations the ush2a gene and is inherited in an autosomal recessive manner. last updated: 9/20/2011

UniProtKB/Swiss-Prot:68 Usher syndrome 2A: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Related Diseases for Usher Syndrome, Type 2a

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Graphical network of diseases related to Usher Syndrome, Type 2a:



Diseases related to usher syndrome, type 2a

Symptoms for Usher Syndrome, Type 2a

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Symptoms by clinical synopsis from OMIM:

276901

Clinical features from OMIM:

276901

HPO human phenotypes related to Usher Syndrome, Type 2a:

id Description Frequency HPO Source Accession
1 rod-cone dystrophy HP:0000510
2 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Usher Syndrome, Type 2a

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 2a

Genetic Tests for Usher Syndrome, Type 2a

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Genetic tests related to Usher Syndrome, Type 2a:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2a25
2 Usher Syndrome Type 2a23 USH2A

Anatomical Context for Usher Syndrome, Type 2a

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MalaCards organs/tissues related to Usher Syndrome, Type 2a:

34
Eye

Animal Models for Usher Syndrome, Type 2a or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome, Type 2a:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1PDZD7, USH2A

Publications for Usher Syndrome, Type 2a

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Articles related to Usher Syndrome, Type 2a:

idTitleAuthorsYear
1
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. (15015129)
2004
2
Semen analysis in the Usher syndrome type 2A. (10325550)
1999
3
Ophthalmologic findings in Usher syndrome type 2A. (8749051)
1995
4
The Usher syndrome type 2A: clinical findings in obligate carriers. (7782174)
1995

Variations for Usher Syndrome, Type 2a

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 2a:

68 (show all 59)
id Symbol AA change Variation ID SNP ID
1USH2Ap.Cys163TyrVAR_025761
2USH2Ap.Val218GluVAR_025762
3USH2Ap.Cys319TyrVAR_025764
4USH2Ap.Arg334TrpVAR_025765
5USH2Ap.Asn346HisVAR_025766
6USH2Ap.Cys419PheVAR_025767
7USH2Ap.Cys536ArgVAR_025769
8USH2Ap.Leu555ValVAR_025770rs35818432
9USH2Ap.His610ProVAR_025771
10USH2Ap.Cys759PheVAR_025775rs80338902
11USH2Ap.Pro761ArgVAR_025776
12USH2Ap.Thr1515MetVAR_025779
13USH2Ap.Arg4115CysVAR_025780
14USH2Ap.Thr4425MetVAR_025781rs201238640
15USH2Ap.Leu280PheVAR_054558
16USH2Ap.Glu284LysVAR_054559
17USH2Ap.Arg303CysVAR_054560
18USH2Ap.Arg303SerVAR_054561
19USH2Ap.Arg334GlnVAR_054563
20USH2Ap.Thr352IleVAR_054564
21USH2Ap.Asn357ThrVAR_054565
22USH2Ap.Pro1212LeuVAR_054579
23USH2Ap.Val1833GluVAR_054584
24USH2Ap.Ala2249AspVAR_054588
25USH2Ap.Arg2354HisVAR_054591
26USH2Ap.Ala2795SerVAR_054593
27USH2Ap.Cys3251ArgVAR_054598
28USH2Ap.Cys3267ArgVAR_054599
29USH2Ap.Cys3282ArgVAR_054600
30USH2Ap.Pro3504ThrVAR_054602
31USH2Ap.Trp3521ArgVAR_054603
32USH2Ap.Thr3571MetVAR_054604
33USH2Ap.Gly3895GluVAR_054608
34USH2Ap.Thr3976MetVAR_054609
35USH2Ap.Ser4054IleVAR_054610
36USH2Ap.Pro4232ArgVAR_054611
37USH2Ap.Thr4337MetVAR_054612
38USH2Ap.Thr4439IleVAR_054614
39USH2Ap.Tyr4487CysVAR_054615
40USH2Ap.Gln4592HisVAR_054616
41USH2Ap.Leu4795ArgVAR_054618
42USH2Ap.Pro4818LeuVAR_054619rs143344549
43USH2Ap.Gly44ArgVAR_071996
44USH2Ap.Ser180ProVAR_071997
45USH2Ap.Val382MetVAR_071998
46USH2Ap.Cys691TyrVAR_071999
47USH2Ap.Gly1734ArgVAR_072003
48USH2Ap.Arg1777TrpVAR_072004
49USH2Ap.Gly1840ValVAR_072006
50USH2Ap.Pro1843LeuVAR_072007
51USH2Ap.Gly1861SerVAR_072008
52USH2Ap.Asp2738AsnVAR_072021
53USH2Ap.Trp2744CysVAR_072022
54USH2Ap.Gly2752ArgVAR_072023
55USH2Ap.Asp3515GlyVAR_072031
56USH2Ap.Gly3546ArgVAR_072033
57USH2Ap.Tyr3747CysVAR_072037
58USH2Ap.Asn3894AspVAR_072039
59USH2Ap.Arg5143CysVAR_072064

Clinvar genetic disease variations for Usher Syndrome, Type 2a:

5 (show all 115)
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
2USH2ANM_206933.2(USH2A): c.11156G> A (p.Arg3719His)single nucleotide variantLikely pathogenicrs527236139GRCh37Chr 1, 215933077: 215933077
3USH2ANM_206933.2(USH2A): c.12079C> T (p.Gln4027Ter)single nucleotide variantLikely pathogenicrs527236138GRCh37Chr 1, 215853706: 215853706
4USH2ANM_206933.2(USH2A): c.13010C> T (p.Thr4337Met)single nucleotide variantLikely pathogenic, Pathogenicrs527236137GRCh37Chr 1, 215848243: 215848243
5USH2ANM_206933.2(USH2A): c.2983C> T (p.Gln995Ter)single nucleotide variantPathogenicrs527236135GRCh37Chr 1, 216405305: 216405305
6USH2ANM_206933.2(USH2A): c.3967delA (p.Met1323Terfs)deletionLikely pathogenicrs527236136GRCh37Chr 1, 216371771: 216371771
7USH2ANM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs)deletionPathogenicrs727503715GRCh37Chr 1, 215847879: 215847879
8USH2ANM_206933.2(USH2A): c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp)deletionLikely pathogenicrs727503723GRCh37Chr 1, 216166370: 216166372
9USH2ANM_206933.2(USH2A): c.6398G> A (p.Trp2133Ter)single nucleotide variantPathogenicrs727503725GRCh37Chr 1, 216173832: 216173832
10USH2ANM_206933.2(USH2A): c.4510dupA (p.Arg1504Lysfs)duplicationPathogenicrs727503731GRCh37Chr 1, 216348711: 216348711
11USH2ANM_206933.2(USH2A): c.2541C> A (p.Cys847Ter)single nucleotide variantPathogenicrs727503736GRCh37Chr 1, 216420195: 216420195
12USH2ANM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)single nucleotide variantPathogenicrs146733615GRCh37Chr 1, 215814065: 215814065
13USH2ANM_206933.2(USH2A): c.12295-?_14133+?deldeletionLikely pathogenicGRCh37Chr 1, 215844314: 215848958
14USH2ANC_000001.11: g.(?_216292175)_(216327654_?)deldeletionPathogenicGRCh37Chr 1, 216465517: 216500996
15USH2ANM_206933.2(USH2A): c.(?_1645)_(1840_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216465517: 216465712
16USH2ANM_206933.2(USH2A): c.1992dupT (p.Lys665Terfs)duplicationPathogenicrs730880349GRCh37Chr 1, 216424420: 216424420
17USH2ANM_206933.2(USH2A): c.11145T> A (p.Tyr3715Ter)single nucleotide variantPathogenicrs727504608GRCh37Chr 1, 215933088: 215933088
18NM_206933.2(USH2A): c.(?_5299)_(5572_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216251431: 216251704
19NC_000001.11: g.(?_216086719)_(216097213_?)deldeletionPathogenicGRCh37Chr 1, 216260061: 216270555
20USH2ANM_206933.2(USH2A): c.14248C> T (p.Gln4750Ter)single nucleotide variantPathogenicrs727504867GRCh38Chr 1, 215650687: 215650687
21USH2ANM_206933.2(USH2A): c.632G> A (p.Trp211Ter)single nucleotide variantPathogenicrs727504893GRCh38Chr 1, 216418533: 216418533
22USH2ANM_206933.2(USH2A): c.(?_8682)_(8845_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216040349: 216040512
23USH2ANM_206933.2(USH2A): c.11440G> T (p.Gly3814Ter)single nucleotide variantPathogenicrs727505337GRCh38Chr 1, 215743285: 215743285
24USH2ANM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)deletionPathogenicrs727505343GRCh38Chr 1, 216070273: 216070273
25USH2ANM_206933.2(USH2A): c.1214delA (p.Asn405Ilefs)deletionPathogenicrs750228923GRCh38Chr 1, 216324282: 216324282
26NM_206933.2(USH2A): c.5167+1G> Tsingle nucleotide variantPathogenicrs794727408GRCh37Chr 1, 216258039: 216258039
27USH2ANM_206933.2(USH2A): c.6601C> T (p.Gln2201Ter)single nucleotide variantPathogenicrs794727579GRCh37Chr 1, 216172285: 216172285
28USH2ANM_206933.2(USH2A): c.7595-3C> Gsingle nucleotide variantLikely pathogenicrs201657446GRCh37Chr 1, 216062399: 216062399
29USH2ANM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)single nucleotide variantPathogenicrs148660051GRCh37Chr 1, 215963510: 215963510
30USH2ANM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)deletionPathogenicrs779791079GRCh37Chr 1, 215901562: 215901563
31USH2ANM_206933.2(USH2A): c.13316C> T (p.Thr4439Ile)single nucleotide variantPathogenicrs753330544GRCh37Chr 1, 215847937: 215847937
32USH2ANM_206933.2(USH2A): c.14502_14503delTC (p.Pro4835Thrfs)deletionPathogenicrs794727830GRCh37Chr 1, 215821949: 215821950
33USH2ANM_206933.2(USH2A): c.4405C> T (p.Gln1469Ter)single nucleotide variantPathogenicrs797045113GRCh37Chr 1, 216348816: 216348816
34USH2ANM_206933.2(USH2A): c.9827C> G (p.Ser3276Ter)single nucleotide variantLikely pathogenicrs863224941GRCh37Chr 1, 215972380: 215972380
35USH2ANM_206933.2(USH2A): c.4474G> T (p.Glu1492Ter)single nucleotide variantPathogenicrs869312179GRCh37Chr 1, 216348747: 216348747
36NM_206933.2(USH2A): c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs)indelLikely pathogenicrs869312180GRCh37Chr 1, 216246601: 216246601
37USH2ANM_206933.2: c.6326-3582_6658-1028deldeletionLikely pathogenic
38USH2ANM_206933.2(USH2A): c.6446C> A (p.Pro2149Gln)single nucleotide variantLikely pathogenicrs869312182GRCh37Chr 1, 216173784: 216173784
39USH2ANM_206933.2(USH2A): c.12700A> C (p.Thr4234Pro)single nucleotide variantLikely pathogenicrs577938494GRCh38Chr 1, 215675211: 215675211
40USH2ANC_000001.11: g.(?_215888426)_(215900905_?)deldeletionPathogenic
41USH2ANM_206933.2(USH2A): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs397517963GRCh37Chr 1, 216498790: 216498790
42USH2ANM_206933.2(USH2A): c.13711G> T (p.Glu4571Ter)single nucleotide variantPathogenicrs751411512GRCh38Chr 1, 215674200: 215674200
43USH2ANM_206933.2(USH2A): c.486-1G> Csingle nucleotide variantPathogenicrs876657730GRCh38Chr 1, 216418680: 216418680
44NM_206933.2(USH2A): c.5776+1G> Asingle nucleotide variantPathogenicrs876657731GRCh38Chr 1, 216073096: 216073096
45USH2ANM_206933.2(USH2A): c.6639delA (p.Lys2213Asnfs)deletionPathogenicrs876657732GRCh38Chr 1, 215998905: 215998905
46USH2ANM_206933.2(USH2A): c.8681+1G> Asingle nucleotide variantPathogenicrs876657733GRCh38Chr 1, 215877757: 215877757
47USH2ANM_206933.2(USH2A): c.8740C> T (p.Arg2914Ter)single nucleotide variantPathogenicrs766590491GRCh38Chr 1, 215867112: 215867112
48USH2ANM_206933.2(USH2A): c.9570+1G> Asingle nucleotide variantPathogenicrs760225886GRCh37Chr 1, 215990338: 215990338
49USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
50USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
51USH2ANM_206933.2(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
52USH2ANM_206933.2(USH2A): c.779T> G (p.Leu260Ter)single nucleotide variantPathogenicrs121912598GRCh37Chr 1, 216538300: 216538300
53USH2ANM_206933.2(USH2A): c.956G> A (p.Cys319Tyr)single nucleotide variantPathogenicrs121912599GRCh37Chr 1, 216498834: 216498834
54USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
55USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)single nucleotide variantPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
56USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)single nucleotide variantPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
57USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)single nucleotide variantPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
58USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicrs587776538GRCh37Chr 1, 216595438: 216595439
59USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)single nucleotide variantPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
60USH2ANM_206933.2(USH2A): c.7595-2144A> Gsingle nucleotide variantPathogenicrs786200928GRCh37Chr 1, 216064540: 216064540
61USH2ANM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs)duplicationPathogenicrs786205115GRCh38Chr 1, 216217415: 216217415
62USH2ANM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs)duplicationPathogenicrs786205116GRCh37Chr 1, 216019331: 216019331
63PDZD7NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs)duplicationrisk factorrs587776894GRCh37Chr 10, 102789811: 102789811
64USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
65USH2ANM_206933.2(USH2A): c.1036A> C (p.Asn346His)single nucleotide variantLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
66USH2ANM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter)single nucleotide variantLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
67USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)single nucleotide variantPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
68USH2ANM_206933.2(USH2A): c.10712C> T (p.Thr3571Met)single nucleotide variantLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
69USH2ANM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)single nucleotide variantLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
70USH2ANM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter)single nucleotide variantLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
71USH2ANM_206933.2(USH2A): c.11048-1G> Asingle nucleotide variantPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
72USH2ANM_206933.2(USH2A): c.11231+1G> Tsingle nucleotide variantLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
73USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
74USH2ANM_206933.2(USH2A): c.1143+1G> Asingle nucleotide variantPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
75USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)single nucleotide variantPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
76USH2ANM_206933.2(USH2A): c.12067-1G> Csingle nucleotide variantPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
77USH2ANM_206933.2(USH2A): c.12067-2A> Gsingle nucleotide variantPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
78USH2ANM_206933.2(USH2A): c.12295-2A> Gsingle nucleotide variantPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
79USH2ANM_206933.2(USH2A): c.1227G> C (p.Trp409Cys)single nucleotide variantLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
80USH2ANM_206933.2(USH2A): c.12294+1G> Csingle nucleotide variantLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
81USH2ANM_206933.2(USH2A): c.12295-3T> Asingle nucleotide variantPathogenicrs111033518GRCh37Chr 1, 215848961: 215848961
82USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)single nucleotide variantPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
83USH2ANM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg)single nucleotide variantLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
84USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)single nucleotide variantPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
85USH2ANM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)single nucleotide variantLikely pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
86USH2ANM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter)single nucleotide variantLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
87USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844416: 215844416
88USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)single nucleotide variantPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
89USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)single nucleotide variantPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
90USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)single nucleotide variantPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
91USH2ANM_206933.2(USH2A): c.1841-2A> Gsingle nucleotide variantPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
92USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)single nucleotide variantPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
93USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
94USH2ANM_206933.2(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionPathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
95USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
96USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
97NM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258206: 216258206
98NM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser)single nucleotide variantLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
99NM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)single nucleotide variantPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
100NM_206933.2(USH2A): c.5857+2T> Csingle nucleotide variantPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
101USH2ANM_206933.2(USH2A): c.5858-1G> Asingle nucleotide variantPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
102USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)single nucleotide variantPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
103USH2ANM_206933.2(USH2A): c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
104USH2ANM_206933.2(USH2A): c.653T> A (p.Val218Glu)single nucleotide variantLikely pathogenicrs397518026GRCh37Chr 1, 216538426: 216538426
105USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)single nucleotide variantPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
106USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)single nucleotide variantPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
107USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
108USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)single nucleotide variantPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
109USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)single nucleotide variantPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
110USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
111USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)single nucleotide variantPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
112USH2ANM_206933.2(USH2A): c.9371+1G> Csingle nucleotide variantPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
113USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)single nucleotide variantPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
114USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)single nucleotide variantPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
115USH2ANM_206933.2(USH2A): c.9799T> C (p.Cys3267Arg)single nucleotide variantLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408

Expression for genes affiliated with Usher Syndrome, Type 2a

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

Pathways for genes affiliated with Usher Syndrome, Type 2a

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GO Terms for genes affiliated with Usher Syndrome, Type 2a

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

idNameGO IDScoreTop Affiliating Genes
1USH2 complexGO:19906969.1PDZD7, USH2A
2stereocilia ankle linkGO:00021418.8PDZD7, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1establishment of protein localizationGO:00451849.1PDZD7, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.1PDZD7, USH2A

Sources for Usher Syndrome, Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet