MCID: NR2001
MIFTS: 12

Nr2e3-Related Retinitis Pigmentosa malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Nr2e3-Related Retinitis Pigmentosa

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Aliases & Descriptions for Nr2e3-Related Retinitis Pigmentosa:

Name: Nr2e3-Related Retinitis Pigmentosa 24
Retinitis Pigmentosa 37 67
 
Rp37 24

Classifications:



Summaries for Nr2e3-Related Retinitis Pigmentosa

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MalaCards based summary: Nr2e3-Related Retinitis Pigmentosa, also known as retinitis pigmentosa 37, is related to retinitis pigmentosa 37, and has symptoms including photophobia An important gene associated with Nr2e3-Related Retinitis Pigmentosa is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3).

Related Diseases for Nr2e3-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 Nr2e3-Related Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa 3711.0

Symptoms for Nr2e3-Related Retinitis Pigmentosa

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UMLS symptoms related to Nr2e3-Related Retinitis Pigmentosa:


photophobia

Drugs & Therapeutics for Nr2e3-Related Retinitis Pigmentosa

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nr2e3-Related Retinitis Pigmentosa

Genetic Tests for Nr2e3-Related Retinitis Pigmentosa

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Genetic tests related to Nr2e3-Related Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Nr2e3-Related Retinitis Pigmentosa24 NR2E3

Anatomical Context for Nr2e3-Related Retinitis Pigmentosa

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Animal Models for Nr2e3-Related Retinitis Pigmentosa or affiliated genes

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Publications for Nr2e3-Related Retinitis Pigmentosa

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Variations for Nr2e3-Related Retinitis Pigmentosa

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Clinvar genetic disease variations for Nr2e3-Related Retinitis Pigmentosa:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR2E3NM_016346.3(NR2E3): c.119-2A> CSNVLikely pathogenic, Pathogenicrs2723341GRCh37Chr 15, 72103821: 72103821
2NR2E3NR2E3, IVS1AS, A-CSNVPathogenicChr na, -1: -1
3NR2E3NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)SNVLikely pathogenic, Pathogenicrs121912631GRCh37Chr 15, 72103870: 72103870

Expression for genes affiliated with Nr2e3-Related Retinitis Pigmentosa

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Search GEO for disease gene expression data for Nr2e3-Related Retinitis Pigmentosa.

Pathways for genes affiliated with Nr2e3-Related Retinitis Pigmentosa

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GO Terms for genes affiliated with Nr2e3-Related Retinitis Pigmentosa

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Sources for Nr2e3-Related Retinitis Pigmentosa

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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