MCID: USH032
MIFTS: 35

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 51 12
Ush2a 47 24 69
Usher's Syndrome Type 2a 69 26
Usher Syndrome Type 2a 47 24
Retinal Disease in Usher Syndrome Type Iia, Modifier of 51
Usher Syndrome, Type Iia 67
 
Usher Syndrome Type Iia 69
Usher Syndrome 2a 69
Ushiia 69
Ush2 47
Us2 47

Characteristics:

HPO:

63
usher syndrome, type 2a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276901
MedGen36 C1848634
MeSH38 D052245

Summaries for Usher Syndrome, Type 2a

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OMIM:51 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 retinitis pigmentosa 39 and usher syndrome, 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:47 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:69 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

Human phenotypes related to Usher Syndrome, Type 2a:

 63
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy63 HP:0000510
2 congenital sensorineural hearing impairment63 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 2a26
2 Usher Syndrome Type 2a24 USH2A

Anatomical Context for Usher Syndrome, Type 2a

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

35
Eye

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

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

40
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:

69 (show all 59)
id Symbol AA change Variation ID SNP ID
1USH2Ap.Cys163TyrVAR_025761
2USH2Ap.Val218GluVAR_025762rs397518026
3USH2Ap.Cys319TyrVAR_025764rs121912599
4USH2Ap.Arg334TrpVAR_025765rs397517963
5USH2Ap.Asn346HisVAR_025766rs369522997
6USH2Ap.Cys419PheVAR_025767rs121912600
7USH2Ap.Cys536ArgVAR_025769rs111033273
8USH2Ap.Leu555ValVAR_025770rs35818432
9USH2Ap.His610ProVAR_025771
10USH2Ap.Cys759PheVAR_025775rs80338902
11USH2Ap.Pro761ArgVAR_025776
12USH2Ap.Thr1515MetVAR_025779rs373599651
13USH2Ap.Arg4115CysVAR_025780rs111033275
14USH2Ap.Thr4425MetVAR_025781rs201238640
15USH2Ap.Leu280PheVAR_054558
16USH2Ap.Glu284LysVAR_054559
17USH2Ap.Arg303CysVAR_054560
18USH2Ap.Arg303SerVAR_054561rs748465849
19USH2Ap.Arg334GlnVAR_054563rs758303489
20USH2Ap.Thr352IleVAR_054564rs780308389
21USH2Ap.Asn357ThrVAR_054565
22USH2Ap.Pro1212LeuVAR_054579
23USH2Ap.Val1833GluVAR_054584
24USH2Ap.Ala2249AspVAR_054588
25USH2Ap.Arg2354HisVAR_054591rs201386640
26USH2Ap.Ala2795SerVAR_054593
27USH2Ap.Cys3251ArgVAR_054598rs527236118
28USH2Ap.Cys3267ArgVAR_054599rs111033263
29USH2Ap.Cys3282ArgVAR_054600
30USH2Ap.Pro3504ThrVAR_054602
31USH2Ap.Trp3521ArgVAR_054603rs111033264
32USH2Ap.Thr3571MetVAR_054604rs202175091
33USH2Ap.Gly3895GluVAR_054608
34USH2Ap.Thr3976MetVAR_054609rs142381713
35USH2Ap.Ser4054IleVAR_054610
36USH2Ap.Pro4232ArgVAR_054611rs745371873
37USH2Ap.Thr4337MetVAR_054612rs527236137
38USH2Ap.Thr4439IleVAR_054614rs753330544
39USH2Ap.Tyr4487CysVAR_054615rs768893227
40USH2Ap.Gln4592HisVAR_054616
41USH2Ap.Leu4795ArgVAR_054618rs199851839
42USH2Ap.Pro4818LeuVAR_054619rs143344549
43USH2Ap.Gly44ArgVAR_071996
44USH2Ap.Ser180ProVAR_071997
45USH2Ap.Val382MetVAR_071998rs750651679
46USH2Ap.Cys691TyrVAR_071999
47USH2Ap.Gly1734ArgVAR_072003
48USH2Ap.Arg1777TrpVAR_072004rs770329105
49USH2Ap.Gly1840ValVAR_072006
50USH2Ap.Pro1843LeuVAR_072007rs200209833
51USH2Ap.Gly1861SerVAR_072008rs375668376
52USH2Ap.Asp2738AsnVAR_072021rs750687826
53USH2Ap.Trp2744CysVAR_072022
54USH2Ap.Gly2752ArgVAR_072023rs201863550
55USH2Ap.Asp3515GlyVAR_072031rs527236119
56USH2Ap.Gly3546ArgVAR_072033
57USH2Ap.Tyr3747CysVAR_072037
58USH2Ap.Asn3894AspVAR_072039
59USH2Ap.Arg5143CysVAR_072064rs145771342

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

5 (show all 129)
id Gene Variation Type Significance SNP ID Assembly Location
1USH2ANM_206933.2(USH2A): c.7475C> A (p.Ser2492Ter)SNVLikely pathogenicrs483353056GRCh37Chr 1, 216073536: 216073536
2USH2ANM_206933.2(USH2A): c.11156G> A (p.Arg3719His)SNVLikely pathogenicrs527236139GRCh37Chr 1, 215933077: 215933077
3USH2ANM_206933.2(USH2A): c.12079C> T (p.Gln4027Ter)SNVLikely pathogenicrs527236138GRCh37Chr 1, 215853706: 215853706
4USH2ANM_206933.2(USH2A): c.13010C> T (p.Thr4337Met)SNVLikely pathogenic, Pathogenicrs527236137GRCh37Chr 1, 215848243: 215848243
5USH2ANM_206933.2(USH2A): c.2983C> T (p.Gln995Ter)SNVPathogenicrs527236135GRCh37Chr 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.12575G> A (p.Arg4192His)SNVPathogenicrs199605265GRCh37Chr 1, 215848678: 215848678
9USH2ANM_206933.2(USH2A): c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp)deletionLikely pathogenicrs727503723GRCh37Chr 1, 216166370: 216166372
10USH2ANM_206933.2(USH2A): c.6398G> A (p.Trp2133Ter)SNVPathogenicrs727503725GRCh37Chr 1, 216173832: 216173832
11USH2ANM_206933.2(USH2A): c.4510dupA (p.Arg1504Lysfs)duplicationPathogenicrs727503731GRCh38Chr 1, 216175369: 216175369
12USH2ANM_206933.2(USH2A): c.2541C> A (p.Cys847Ter)SNVPathogenicrs727503736GRCh37Chr 1, 216420195: 216420195
13USH2ANM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)SNVPathogenicrs146733615GRCh37Chr 1, 215814065: 215814065
14USH2ANM_206933.2(USH2A): c.12295-?_14133+?deldeletionLikely pathogenicGRCh37Chr 1, 215844314: 215848958
15USH2ANC_000001.11: g.(?_216292175)_(216327654_?)deldeletionPathogenicGRCh37Chr 1, 216465517: 216500996
16USH2ANM_206933.2(USH2A): c.(?_1645)_(1840_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216465517: 216465712
17USH2ANM_206933.2(USH2A): c.1992dupT (p.Lys665Terfs)duplicationPathogenicrs730880349GRCh37Chr 1, 216424420: 216424420
18USH2ANM_206933.2(USH2A): c.11145T> A (p.Tyr3715Ter)SNVPathogenicrs727504608GRCh37Chr 1, 215933088: 215933088
19USH2ANM_206933.2(USH2A): c.(?_5299)_(5572_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216251431: 216251704
20USH2ANC_000001.11: g.(?_216086719)_(216097213_?)deldeletionPathogenicGRCh37Chr 1, 216260061: 216270555
21USH2ANM_206933.2(USH2A): c.14248C> T (p.Gln4750Ter)SNVPathogenicrs727504867GRCh37Chr 1, 215824029: 215824029
22USH2ANM_206933.2(USH2A): c.632G> A (p.Trp211Ter)SNVPathogenicrs727504893GRCh37Chr 1, 216591875: 216591875
23USH2ANM_206933.2(USH2A): c.(?_8682)_(8845_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216040349: 216040512
24USH2ANM_206933.2(USH2A): c.11440G> T (p.Gly3814Ter)SNVPathogenicrs727505337GRCh38Chr 1, 215743285: 215743285
25USH2ANM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)deletionLikely pathogenic, Pathogenicrs727505343GRCh37Chr 1, 216243615: 216243615
26USH2ANM_206933.2(USH2A): c.1214delA (p.Asn405Ilefs)deletionPathogenicrs750228923GRCh37Chr 1, 216497624: 216497624
27USH2ANM_206933.2(USH2A): c.5167+1G> TSNVPathogenicrs794727408GRCh37Chr 1, 216258039: 216258039
28USH2ANM_206933.2(USH2A): c.6601C> T (p.Gln2201Ter)SNVPathogenicrs794727579GRCh37Chr 1, 216172285: 216172285
29USH2ANM_206933.2(USH2A): c.7595-3C> GSNVLikely pathogenicrs201657446GRCh37Chr 1, 216062399: 216062399
30USH2ANM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)SNVPathogenicrs148660051GRCh37Chr 1, 215963510: 215963510
31USH2ANM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)deletionPathogenicrs779791079GRCh37Chr 1, 215901562: 215901563
32USH2ANM_206933.2(USH2A): c.13316C> T (p.Thr4439Ile)SNVPathogenicrs753330544GRCh37Chr 1, 215847937: 215847937
33USH2ANM_206933.2(USH2A): c.14502_14503delTC (p.Pro4835Thrfs)deletionPathogenicrs794727830GRCh37Chr 1, 215821949: 215821950
34USH2ANM_206933.2(USH2A): c.4405C> T (p.Gln1469Ter)SNVPathogenicrs797045113GRCh37Chr 1, 216348816: 216348816
35USH2ANM_206933.2(USH2A): c.10342G> A (p.Glu3448Lys)SNVLikely pathogenicrs368049814GRCh37Chr 1, 215960057: 215960057
36USH2ANM_206933.2(USH2A): c.9827C> G (p.Ser3276Ter)SNVLikely pathogenicrs863224941GRCh37Chr 1, 215972380: 215972380
37USH2ANM_206933.2(USH2A): c.4474G> T (p.Glu1492Ter)SNVPathogenicrs869312179GRCh37Chr 1, 216348747: 216348747
38USH2ANM_206933.2(USH2A): c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs)indelLikely pathogenicrs869312180GRCh37Chr 1, 216246601: 216246601
39USH2ANM_206933.2: c.6326-3582_6658-1028deldeletionLikely pathogenicChr na, -1: -1
40USH2ANM_206933.2(USH2A): c.6446C> A (p.Pro2149Gln)SNVLikely pathogenicrs869312182GRCh37Chr 1, 216173784: 216173784
41USH2ANM_206933.2(USH2A): c.12700A> C (p.Thr4234Pro)SNVLikely pathogenicrs577938494GRCh38Chr 1, 215675211: 215675211
42USH2ANC_000001.11: g.(?_215888426)_(215900905_?)deldeletionPathogenicGRCh38Chr 1, 215888426: 215900905
43USH2ANM_206933.2(USH2A): c.1000C> T (p.Arg334Trp)SNVPathogenicrs397517963GRCh37Chr 1, 216498790: 216498790
44USH2ANM_206933.2(USH2A): c.13711G> T (p.Glu4571Ter)SNVPathogenicrs751411512GRCh38Chr 1, 215674200: 215674200
45USH2ANM_206933.2(USH2A): c.486-1G> CSNVPathogenicrs876657730GRCh37Chr 1, 216592022: 216592022
46USH2ANM_206933.2(USH2A): c.5776+1G> ASNVPathogenicrs876657731GRCh38Chr 1, 216073096: 216073096
47USH2ANM_206933.2(USH2A): c.6639delA (p.Lys2213Asnfs)deletionPathogenicrs876657732GRCh38Chr 1, 215998905: 215998905
48USH2ANM_206933.2(USH2A): c.8681+1G> ASNVPathogenicrs876657733GRCh38Chr 1, 215877757: 215877757
49USH2ANM_206933.2(USH2A): c.8740C> T (p.Arg2914Ter)SNVPathogenicrs766590491GRCh38Chr 1, 215867112: 215867112
50USH2ANM_206933.2(USH2A): c.9570+1G> ASNVPathogenicrs760225886GRCh37Chr 1, 215990338: 215990338
51USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
52USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
53USH2ANM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
54USH2ANM_206933.2(USH2A): c.779T> G (p.Leu260Ter)SNVPathogenicrs121912598GRCh37Chr 1, 216538300: 216538300
55USH2ANM_206933.2(USH2A): c.956G> A (p.Cys319Tyr)SNVPathogenicrs121912599GRCh37Chr 1, 216498834: 216498834
56USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
57USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)SNVPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
58USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)SNVPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
59USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)SNVPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
60USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicrs587776538GRCh37Chr 1, 216595438: 216595439
61USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)SNVPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
62USH2ANM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs)deletionPathogenicrs886039450GRCh37Chr 1, 216380743: 216380744
63USH2ANM_206933.2(USH2A): c.9258+1G> ASNVLikely pathogenicrs748810737GRCh37Chr 1, 216017635: 216017635
64USH2ANM_206933.2(USH2A): c.14175G> A (p.Trp4725Ter)SNVPathogenicrs886042722GRCh37Chr 1, 215824102: 215824102
65USH2ANM_206933.2(USH2A): c.9390G> A (p.Trp3130Ter)SNVPathogenicrs886042766GRCh37Chr 1, 215990519: 215990519
66USH2ANM_206933.2(USH2A): c.908G> A (p.Arg303His)SNVPathogenicrs371777049GRCh37Chr 1, 216498882: 216498882
67USH2ANM_206933.2(USH2A): c.1679delC (p.Pro560Leufs)deletionPathogenicrs773539640GRCh37Chr 1, 216465678: 216465678
68USH2ANM_206933.2(USH2A): c.15520-1G> ASNVLikely pathogenicrs767265734GRCh37Chr 1, 215799213: 215799213
69USH2ANM_206933.2(USH2A): c.3086delG (p.Gly1029Alafs)deletionPathogenicrs886044060GRCh37Chr 1, 216390800: 216390800
70USH2ANM_206933.2(USH2A): c.7595-2144A> GSNVPathogenicrs786200928GRCh37Chr 1, 216064540: 216064540
71USH2ANM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs)duplicationPathogenicrs786205115GRCh38Chr 1, 216217415: 216217415
72USH2ANM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs)duplicationPathogenicrs786205116GRCh37Chr 1, 216019331: 216019331
73PDZD7NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs)duplicationrisk factorrs587776894GRCh37Chr 10, 102789811: 102789811
74USH2ANM_206933.2: c.9345_9346delACdeletionLikely pathogenicChr na, -1: -1
75USH2ANM_206933.2: c.13257_13263del7deletionLikely pathogenicChr na, -1: -1
76USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
77USH2ANM_206933.2(USH2A): c.1036A> C (p.Asn346His)SNVLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
78USH2ANM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter)SNVLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
79USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)SNVPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
80USH2ANM_206933.2(USH2A): c.10712C> T (p.Thr3571Met)SNVLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
81USH2ANM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)SNVLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
82USH2ANM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter)SNVLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
83USH2ANM_206933.2(USH2A): c.11048-1G> ASNVPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
84USH2ANM_206933.2(USH2A): c.11231+1G> TSNVLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
85USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
86USH2ANM_206933.2(USH2A): c.1143+1G> ASNVPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
87USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)SNVPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
88USH2ANM_206933.2(USH2A): c.12067-1G> CSNVPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
89USH2ANM_206933.2(USH2A): c.12067-2A> GSNVPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
90USH2ANM_206933.2(USH2A): c.12295-2A> GSNVPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
91USH2ANM_206933.2(USH2A): c.1227G> C (p.Trp409Cys)SNVLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
92USH2ANM_206933.2(USH2A): c.12294+1G> CSNVLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
93USH2ANM_206933.2(USH2A): c.12295-3T> ASNVPathogenicrs111033518GRCh37Chr 1, 215848961: 215848961
94USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)SNVPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
95USH2ANM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg)SNVLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
96USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)SNVPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
97USH2ANM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)SNVLikely pathogenic, Pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
98USH2ANM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter)SNVLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
99USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844416: 215844416
100USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)SNVPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
101USH2ANM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg)SNVLikely pathogenicrs397517990GRCh37Chr 1, 215823990: 215823990
102USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)SNVPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
103USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)SNVPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
104USH2ANM_007123.5(USH2A): c.1841-2A> GSNVPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
105USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)SNVPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
106USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
107USH2ANM_007123.5(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionLikely pathogenic, Pathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
108USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionLikely pathogenic, Pathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
109USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
110USH2ANM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258206: 216258206
111USH2ANM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser)SNVLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
112USH2ANM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)SNVPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
113USH2ANM_206933.2(USH2A): c.5857+2T> CSNVPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
114USH2ANM_206933.2(USH2A): c.5858-1G> ASNVPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
115USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)SNVPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
116USH2ANM_206933.2(USH2A): c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
117USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)SNVPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
118USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)SNVPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
119USH2ANM_206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
120USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)SNVPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
121USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)SNVPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
122USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
123USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)SNVPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
124USH2ANM_206933.2(USH2A): c.9371+1G> CSNVPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
125USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)SNVPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
126USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)SNVPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
127USH2ANM_206933.2(USH2A): c.9799T> C (p.Cys3267Arg)SNVLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408
128USH2ANM_206933.2(USH2A): c.12234_12235delGA (p.Asn4079Trpfs)deletionPathogenicrs398124618GRCh37Chr 1, 215853550: 215853551
129USH2ANM_206933.2(USH2A): c.6862G> T (p.Glu2288Ter)SNVPathogenicrs398124619GRCh37Chr 1, 216144062: 216144062

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
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