USH2A
MCID: USH032
MIFTS: 44

Usher Syndrome, Type 2a (USH2A) 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 52 12
Usher Syndrome Type 2a 11 48 24 13
Ush2a 11 48 24 70
Usher's Syndrome Type 2a 70 27
Usher Syndrome Type Iia 11 70
Retinal Disease in Usher Syndrome Type Iia, Modifier of 52
 
Usher Syndrome, Type Iia 68
Usher Syndrome 2a 70
Ushiia 70
Ush2 48
Us2 48

Characteristics:

HPO:

64
usher syndrome, type 2a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 276901
Disease Ontology11 DOID:0110838
ICD1030 H35.5
MedGen37 C1848634
MeSH39 D052245

Summaries for Usher Syndrome, Type 2a

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OMIM:52 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 usher syndrome type 2a, is related to usher syndrome, type 1f and retinitis pigmentosa 39, and has symptoms including rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 2a is USH2A (Usherin), and among its related pathways are Endometrial cancer and Colorectal Cancer Metastasis. Affiliated tissues include eye, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Disease Ontology:11 An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.

NIH Rare Diseases:48 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:70 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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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 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1f31.2USH1C, USH2A
2retinitis pigmentosa 3930.1EGF, EYA4, GSK3B, HLX, MAPRE2, PDZD7
3usher syndrome type 211.1
4usher syndrome, type 2c10.9
5usher syndrome, type 2d10.9
6usher syndrome, type 3a10.7
7usher syndrome type 3b10.7
8usher syndrome, type 1d10.7
9usher syndrome, type 1c10.7
10usher syndrome, type 1b10.7
11usher syndrome, type ij10.7
12usher syndrome, type 1g10.7
13robinow syndrome, autosomal dominant 110.2GSK3B, USH2A
14usher syndrome10.2
15fibrochondrogenesis 210.1EYA4, USH2A
16lung cancer susceptibility 510.1EGF, EYA4
17obesity susceptibility, adrb3-related10.0EYA4, USH1C, USH2A
18dyskeratosis congenita, autosomal dominant 110.0USH1C, USH2A
19chronic leukemia9.9EGF, TGFB2
20x-linked nonsyndromic deafness9.9EYA4, USH2A, WHRN
2146xy sex reversal 39.9PDZD7, USH1C, USH2A, WHRN
22herpes simplex9.9
23peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads9.9PDZD7, USH1C, USH2A, WHRN
24lissencephaly9.8PDZD7, USH1C, USH2A, WHRN
25deafness, autosomal dominant 119.8GSK3B, USH1C, USH2A, WHRN
26xeroderma pigmentosum group e9.7GSK3B, PDZD7, USH1C, USH2A, WHRN
27sertoli cell-only syndrome9.6PDZD7, RD3, USH1C, USH2A, WHRN

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



Diseases related to usher syndrome, type 2a

Symptoms & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 congenital sensorineural hearing impairment64 HP:0008527

MGI Mouse Phenotypes related to Usher Syndrome, Type 2a according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7EYA4, PDZD7, TGFB2, USH1C, USH2A, WHRN
2MP:00053818.2EGF, EYA4, GSK3B, HLX, TGFB2, USH1C
3MP:00036317.5GSK3B, HLX, PDZD7, RD3, TGFB2, USH1C
4MP:00053917.4EGF, PDZD7, RD3, TGFB2, USH1C, USH2A

Drugs & Therapeutics for Usher Syndrome, Type 2a

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078

Search 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 2a27
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:

36
Eye

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
The Usher syndrome type 2A: clinical findings in obligate carriers. (7782174)
1995
4
Ophthalmologic findings in Usher syndrome type 2A. (8749051)
1995

Variations for Usher Syndrome, Type 2a

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

70 (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 122)
id Gene Variation Type Significance SNP ID Assembly Location
1USH2ANM_ 206933.2(USH2A): c.7475C> A (p.Ser2492Ter)SNVPathogenic/ Likely pathogenicrs483353056GRCh37Chr 1, 216073536: 216073536
2USH2ANM_ 206933.2(USH2A): c.11156G> A (p.Arg3719His)SNVPathogenic/ Likely 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)SNVPathogenic/ Likely 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.6795_ 6797delATA (p.Glu2265_ Tyr2266delinsAsp)deletionLikely pathogenicrs727503723GRCh37Chr 1, 216166370: 216166372
9USH2ANM_ 206933.2(USH2A): c.6398G> A (p.Trp2133Ter)SNVPathogenicrs727503725GRCh37Chr 1, 216173832: 216173832
10USH2ANM_ 206933.2(USH2A): c.4510dupA (p.Arg1504Lysfs)duplicationPathogenicrs727503731GRCh38Chr 1, 216175369: 216175369
11USH2ANM_ 206933.2(USH2A): c.2541C> A (p.Cys847Ter)SNVPathogenicrs727503736GRCh37Chr 1, 216420195: 216420195
12USH2ANM_ 206933.2(USH2A): c.14803C> T (p.Arg4935Ter)SNVPathogenicrs146733615GRCh37Chr 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)SNVPathogenicrs727504608GRCh37Chr 1, 215933088: 215933088
18USH2ANM_ 206933.2(USH2A): c.(?_ 5299)_ (5572_ ?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216251431: 216251704
19USH2ANC_ 000001.11: g.(?_ 216086719)_ (216097213_ ?)deldeletionPathogenicGRCh37Chr 1, 216260061: 216270555
20USH2ANM_ 206933.2(USH2A): c.14248C> T (p.Gln4750Ter)SNVPathogenicrs727504867GRCh37Chr 1, 215824029: 215824029
21USH2ANM_ 206933.2(USH2A): c.632G> A (p.Trp211Ter)SNVPathogenicrs727504893GRCh37Chr 1, 216591875: 216591875
22USH2ANM_ 206933.2(USH2A): c.(?_ 8682)_ (8845_ ?)del (p.(?))deletionPathogenicGRCh37Chr 1, 216040349: 216040512
23USH2ANM_ 206933.2(USH2A): c.11440G> T (p.Gly3814Ter)SNVPathogenicrs727505337GRCh37Chr 1, 215916627: 215916627
24USH2ANM_ 206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)deletionPathogenic/ Likely pathogenicrs727505343GRCh37Chr 1, 216243615: 216243615
25USH2ANM_ 206933.2(USH2A): c.1214delA (p.Asn405Ilefs)deletionPathogenicrs750228923GRCh37Chr 1, 216497624: 216497624
26USH2ANM_ 206933.2(USH2A): c.5167+1G> TSNVPathogenicrs794727408GRCh37Chr 1, 216258039: 216258039
27USH2ANM_ 206933.2(USH2A): c.6601C> T (p.Gln2201Ter)SNVPathogenicrs794727579GRCh37Chr 1, 216172285: 216172285
28USH2ANM_ 206933.2(USH2A): c.7595-3C> GSNVLikely pathogenicrs201657446GRCh37Chr 1, 216062399: 216062399
29USH2ANM_ 206933.2(USH2A): c.8682-9A> GSNVLikely pathogenicrs372347027GRCh37Chr 1, 216040521: 216040521
30USH2ANM_ 206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)SNVPathogenic/ Likely pathogenicrs148660051GRCh37Chr 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.9827C> G (p.Ser3276Ter)SNVLikely pathogenicrs863224941GRCh38Chr 1, 215799038: 215799038
36USH2ANM_ 206933.2(USH2A): c.4474G> T (p.Glu1492Ter)SNVPathogenicrs869312179GRCh37Chr 1, 216348747: 216348747
37USH2ANM_ 206933.2(USH2A): c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs)indelLikely pathogenicrs869312180GRCh37Chr 1, 216246601: 216246601
38USH2ANM_ 206933.2: c.6326-3582_ 6658-1028deldeletionLikely pathogenic
39USH2ANM_ 206933.2(USH2A): c.12700A> C (p.Thr4234Pro)SNVLikely pathogenicrs577938494GRCh38Chr 1, 215675211: 215675211
40USH2ANC_ 000001.11: g.(?_ 215888426)_ (215900905_ ?)deldeletionPathogenicGRCh38Chr 1, 215888426: 215900905
41USH2ANM_ 206933.2(USH2A): c.1000C> T (p.Arg334Trp)SNVPathogenicrs397517963GRCh37Chr 1, 216498790: 216498790
42USH2ANM_ 206933.2(USH2A): c.13711G> T (p.Glu4571Ter)SNVPathogenicrs751411512GRCh38Chr 1, 215674200: 215674200
43USH2ANM_ 206933.2(USH2A): c.486-1G> CSNVPathogenicrs876657730GRCh38Chr 1, 216418680: 216418680
44USH2ANM_ 206933.2(USH2A): c.5776+1G> ASNVPathogenicrs876657731GRCh38Chr 1, 216073096: 216073096
45USH2ANM_ 206933.2(USH2A): c.6639delA (p.Lys2213Asnfs)deletionPathogenicrs876657732GRCh38Chr 1, 215998905: 215998905
46USH2ANM_ 206933.2(USH2A): c.8681+1G> ASNVPathogenicrs876657733GRCh38Chr 1, 215877757: 215877757
47USH2ANM_ 206933.2(USH2A): c.8740C> T (p.Arg2914Ter)SNVPathogenicrs766590491GRCh38Chr 1, 215867112: 215867112
48USH2ANM_ 206933.2(USH2A): c.9570+1G> ASNVPathogenicrs760225886GRCh37Chr 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_ 007123.5(USH2A): c.4338_ 4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
52USH2ANM_ 206933.2(USH2A): c.779T> G (p.Leu260Ter)SNVPathogenicrs121912598GRCh37Chr 1, 216538300: 216538300
53USH2ANM_ 206933.2(USH2A): c.11864G> A (p.Trp3955Ter)SNVPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
54USH2ANM_ 206933.2(USH2A): c.949C> A (p.Arg317=)SNVPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
55USH2ANM_ 206933.2(USH2A): c.1256G> T (p.Cys419Phe)SNVPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
56USH2ANM_ 206933.2(USH2A): c.240_ 241insGATC (p.Gln81Aspfs)insertionPathogenicrs587776538GRCh37Chr 1, 216595438: 216595439
57USH2ANM_ 206933.2(USH2A): c.2209C> T (p.Arg737Ter)SNVPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
58USH2ANM_ 206933.2(USH2A): c.3187_ 3188delCA (p.Gln1063Serfs)deletionPathogenicrs886039450GRCh37Chr 1, 216380743: 216380744
59USH2ANM_ 206933.2(USH2A): c.9258+1G> ASNVLikely pathogenicrs748810737GRCh37Chr 1, 216017635: 216017635
60USH2ANM_ 206933.2(USH2A): c.14175G> A (p.Trp4725Ter)SNVPathogenicrs886042722GRCh37Chr 1, 215824102: 215824102
61USH2ANM_ 206933.2(USH2A): c.9390G> A (p.Trp3130Ter)SNVPathogenicrs886042766GRCh37Chr 1, 215990519: 215990519
62USH2ANM_ 206933.2(USH2A): c.908G> A (p.Arg303His)SNVPathogenicrs371777049GRCh37Chr 1, 216498882: 216498882
63USH2ANM_ 206933.2(USH2A): c.1679delC (p.Pro560Leufs)deletionPathogenicrs773539640GRCh37Chr 1, 216465678: 216465678
64USH2ANM_ 206933.2(USH2A): c.15520-1G> ASNVLikely pathogenicrs767265734GRCh37Chr 1, 215799213: 215799213
65USH2ANM_ 206933.2(USH2A): c.3086delG (p.Gly1029Alafs)deletionPathogenicrs886044060GRCh37Chr 1, 216390800: 216390800
66USH2ANM_ 206933.2(USH2A): c.7595-2144A> GSNVPathogenicrs786200928GRCh37Chr 1, 216064540: 216064540
67USH2ANM_ 206933.2(USH2A): c.3129dupT (p.Val1044Cysfs)duplicationPathogenicrs786205115GRCh38Chr 1, 216217415: 216217415
68USH2ANM_ 206933.2(USH2A): c.8890dupT (p.Trp2964Leufs)duplicationPathogenicrs786205116GRCh37Chr 1, 216019331: 216019331
69PDZD7NM_ 001195263.1(PDZD7): c.166dupC (p.Arg56Profs)duplicationrisk factorrs587776894GRCh37Chr 10, 102789811: 102789811
70USH2ANM_ 206933.2(USH2A): c.9345_ 9346delAC (p.Pro3116Hisfs)deletionLikely pathogenicrs536593247GRCh37Chr 1, 216011358: 216011359
71USH2ANM_ 206933.2(USH2A): c.13257_ 13263delCTCCCTT (p.Phe4419Leufs)deletionLikely pathogenicrs1057517533GRCh37Chr 1, 215847990: 215847996
72USH2ANM_ 206933.2(USH2A): c.10190_ 10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
73USH2ANM_ 206933.2(USH2A): c.1036A> C (p.Asn346His)SNVLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
74USH2ANM_ 206933.2(USH2A): c.10450C> T (p.Arg3484Ter)SNVLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
75USH2ANM_ 206933.2(USH2A): c.10561T> C (p.Trp3521Arg)SNVPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
76USH2ANM_ 206933.2(USH2A): c.10712C> T (p.Thr3571Met)SNVLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
77USH2ANM_ 206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)SNVLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
78USH2ANM_ 206933.2(USH2A): c.10759C> T (p.Gln3587Ter)SNVLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
79USH2ANM_ 206933.2(USH2A): c.11048-1G> ASNVPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
80USH2ANM_ 206933.2(USH2A): c.11231+1G> TSNVLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
81USH2ANM_ 206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
82USH2ANM_ 206933.2(USH2A): c.1143+1G> ASNVPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
83USH2ANM_ 206933.2(USH2A): c.11954G> A (p.Trp3985Ter)SNVPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
84USH2ANM_ 206933.2(USH2A): c.12067-1G> CSNVPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
85USH2ANM_ 206933.2(USH2A): c.12067-2A> GSNVPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
86USH2ANM_ 206933.2(USH2A): c.12295-2A> GSNVPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
87USH2ANM_ 206933.2(USH2A): c.1227G> C (p.Trp409Cys)SNVLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
88USH2ANM_ 206933.2(USH2A): c.12294+1G> CSNVLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
89USH2ANM_ 206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)SNVPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
90USH2ANM_ 206933.2(USH2A): c.12739G> A (p.Gly4247Arg)SNVLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
91USH2ANM_ 206933.2(USH2A): c.12868C> T (p.Gln4290Ter)SNVPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
92USH2ANM_ 206933.2(USH2A): c.13130C> A (p.Ser4377Ter)SNVPathogenic/ Likely pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
93USH2ANM_ 206933.2(USH2A): c.13313G> A (p.Trp4438Ter)SNVLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
94USH2ANM_ 206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844416: 215844416
95USH2ANM_ 206933.2(USH2A): c.14180G> A (p.Trp4727Ter)SNVPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
96USH2ANM_ 206933.2(USH2A): c.14287G> A (p.Gly4763Arg)SNVLikely pathogenicrs397517990GRCh37Chr 1, 215823990: 215823990
97USH2ANM_ 206933.2(USH2A): c.14911C> T (p.Arg4971Ter)SNVPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
98USH2ANM_ 206933.2(USH2A): c.1606T> C (p.Cys536Arg)SNVPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
99USH2ANM_ 007123.5(USH2A): c.1841-2A> GSNVPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
100USH2ANM_ 206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)SNVPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
101USH2ANM_ 206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
102USH2ANM_ 206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenic/ Likely pathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
103USH2ANM_ 206933.2(USH2A): c.4133_ 4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
104USH2ANM_ 206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258206: 216258206
105USH2ANM_ 206933.2(USH2A): c.5581G> A (p.Gly1861Ser)SNVLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
106USH2ANM_ 206933.2(USH2A): c.5788C> T (p.Arg1930Ter)SNVPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
107USH2ANM_ 206933.2(USH2A): c.5858-1G> ASNVPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
108USH2ANM_ 206933.2(USH2A): c.6224G> A (p.Trp2075Ter)SNVPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
109USH2ANM_ 206933.2(USH2A): c.6289_ 6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
110USH2ANM_ 206933.2(USH2A): c.7244C> G (p.Ser2415Ter)SNVPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
111USH2ANM_ 206933.2(USH2A): c.820C> T (p.Arg274Ter)SNVPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
112USH2ANM_ 206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
113USH2ANM_ 206933.2(USH2A): c.8981G> A (p.Trp2994Ter)SNVPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
114USH2ANM_ 206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)SNVPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
115USH2ANM_ 206933.2(USH2A): c.920_ 923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
116USH2ANM_ 206933.2(USH2A): c.9304C> T (p.Gln3102Ter)SNVPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
117USH2ANM_ 206933.2(USH2A): c.9371+1G> CSNVPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
118USH2ANM_ 206933.2(USH2A): c.9424G> T (p.Gly3142Ter)SNVPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
119USH2ANM_ 206933.2(USH2A): c.9459C> A (p.Cys3153Ter)SNVPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
120USH2ANM_ 206933.2(USH2A): c.9799T> C (p.Cys3267Arg)SNVLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408
121USH2ANM_ 206933.2(USH2A): c.12234_ 12235delGA (p.Asn4079Trpfs)deletionPathogenicrs398124618GRCh37Chr 1, 215853550: 215853551
122USH2ANM_ 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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Pathways related to Usher Syndrome, Type 2a according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0EGF, GSK3B, TGFB2
29.0EGF, GSK3B, TGFB2

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
1periciliary membrane compartmentGO:199007510.2USH2A, WHRN
2photoreceptor connecting ciliumGO:003239110.2USH2A, WHRN
3stereocilia ankle link complexGO:000214210.1USH2A, WHRN
4stereocilia ankle linkGO:00021419.8PDZD7, USH2A, WHRN
5stereociliumGO:00324209.8USH1C, WHRN
6photoreceptor inner segmentGO:00019179.7USH1C, USH2A, WHRN
7stereocilium bundleGO:00324219.7USH2A, WHRN
8USH2 complexGO:19906969.4PDZD7, USH2A, WHRN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:004549410.4USH1C, USH2A
2auditory receptor cell stereocilium organizationGO:006008810.3PDZD7, WHRN
3positive regulation of peptidyl-threonine phosphorylationGO:001080010.3EGF, GSK3B
4epithelial to mesenchymal transitionGO:000183710.2GSK3B, TGFB2
5inner ear receptor stereocilium organizationGO:006012210.1USH1C, WHRN
6establishment of protein localizationGO:004518410.0PDZD7, USH2A, WHRN
7sensory perception of light stimulusGO:00509539.8USH1C, USH2A, WHRN
8sensory perception of soundGO:00076059.4EYA4, USH1C, USH2A, WHRN
9visual perceptionGO:00076019.4EYA4, RD3, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055155.5EGF, EYA4, GSK3B, HLX, MAPRE2, PDZD7

Sources for Usher Syndrome, Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet