MCID: USH013
MIFTS: 11

Ush2a-Related Retinitis Pigmentosa malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Ush2a-Related Retinitis Pigmentosa

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Aliases & Descriptions for Ush2a-Related Retinitis Pigmentosa:

Name: Ush2a-Related Retinitis Pigmentosa 24
Retinitis Pigmentosa 39 68
 
Rp39 24

Classifications:



Summaries for Ush2a-Related Retinitis Pigmentosa

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MalaCards based summary: Ush2a-Related Retinitis Pigmentosa, also known as retinitis pigmentosa 39, is related to retinitis pigmentosa 39. An important gene associated with Ush2a-Related Retinitis Pigmentosa is USH2A (Usherin).

Related Diseases for Ush2a-Related Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 20
Retinitis Pigmentosa 19 Retinitis Pigmentosa 32
Retinitis Pigmentosa 18 Retinitis Pigmentosa 35
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 72
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 22 Retinitis Pigmentosa 45
Retinitis Pigmentosa 74 Retinitis Pigmentosa 13
Retinitis Pigmentosa 36 Retinitis Pigmentosa 17
Retinitis Pigmentosa 30 Retinitis Pigmentosa 57
Retinitis Pigmentosa 11 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 23 Retinitis Pigmentosa 3
Retinitis Pigmentosa 2 Retinitis Pigmentosa 24
Retinitis Pigmentosa 34 Retinitis Pigmentosa 75
Late-Adult Onset Retinitis Pigmentosa Bbs2-Related Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Arl2bp-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Klhl7-Related Retinitis Pigmentosa Lrat-Related Retinitis Pigmentosa
Mak-Related Retinitis Pigmentosa Mertk-Related Retinitis Pigmentosa
Nr2e3-Related Retinitis Pigmentosa Nrl-Related Retinitis Pigmentosa
Ofd1-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Pde6g-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Prom1-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Prpf6-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prph2-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Rgr-Related Retinitis Pigmentosa
Rho-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Rp2-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Slc7a14-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Topors-Related Retinitis Pigmentosa Ttc8-Related Retinitis Pigmentosa
Tulp1-Related Retinitis Pigmentosa ush2a-related retinitis pigmentosa
Znf513-Related Retinitis Pigmentosa Retinitis Pigmentosa 76

Diseases related to Ush2a-Related Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa 3911.0

Symptoms & Phenotypes for Ush2a-Related Retinitis Pigmentosa

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Drugs & Therapeutics for Ush2a-Related Retinitis Pigmentosa

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ush2a-Related Retinitis Pigmentosa

Genetic Tests for Ush2a-Related Retinitis Pigmentosa

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Genetic tests related to Ush2a-Related Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Ush2a-Related Retinitis Pigmentosa24 USH2A

Anatomical Context for Ush2a-Related Retinitis Pigmentosa

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Publications for Ush2a-Related Retinitis Pigmentosa

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Variations for Ush2a-Related Retinitis Pigmentosa

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Clinvar genetic disease variations for Ush2a-Related Retinitis Pigmentosa:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1USH2ANM_206933.2(USH2A): c.12575G> A (p.Arg4192His)SNVPathogenicrs199605265GRCh37Chr 1, 215848678: 215848678
2USH2ANM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)SNVPathogenicrs146733615GRCh37Chr 1, 215814065: 215814065
3USH2ANM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)SNVPathogenicrs148660051GRCh37Chr 1, 215963510: 215963510
4USH2ANM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)deletionPathogenicrs779791079GRCh37Chr 1, 215901562: 215901563
5USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
6USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
7USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)SNVPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
8USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicrs587776538GRCh37Chr 1, 216595438: 216595439
9USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)SNVPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
10USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)SNVPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
11USH2ANM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs)deletionPathogenicrs886039450GRCh37Chr 1, 216380743: 216380744
12USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
13USH2ANM_206933.2(USH2A): c.12067-2A> GSNVPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
14USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)SNVPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485

Expression for genes affiliated with Ush2a-Related Retinitis Pigmentosa

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Search GEO for disease gene expression data for Ush2a-Related Retinitis Pigmentosa.

Pathways for genes affiliated with Ush2a-Related Retinitis Pigmentosa

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GO Terms for genes affiliated with Ush2a-Related Retinitis Pigmentosa

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Sources for Ush2a-Related Retinitis Pigmentosa

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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