MCID: CRB083
MIFTS: 11

Crb1-Related Retinitis Pigmentosa malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Crb1-Related Retinitis Pigmentosa

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33MalaCards
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MalaCards: Crb1-Related Retinitis Pigmentosa, is also known as retinitis pigmentosa 12 An important gene associated with Crb1-Related Retinitis Pigmentosa is CRB1 (crumbs family member 1, photoreceptor morphogenesis associated).

Aliases & Classifications for Crb1-Related Retinitis Pigmentosa

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Sources:
20GeneTests, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

crb1-related retinitis pigmentosa 20
retinitis pigmentosa 12 62


Related Diseases for Crb1-Related Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 11 Retinitis Pigmentosa 12
Retinitis Pigmentosa 13 Retinitis Pigmentosa 14
Retinitis Pigmentosa 15 Retinitis Pigmentosa 17
Retinitis Pigmentosa 18 Retinitis Pigmentosa 19
Retinitis Pigmentosa 2, X Linked Retinitis Pigmentosa 20
Retinitis Pigmentosa 22 Retinitis Pigmentosa 23
Retinitis Pigmentosa 24 Retinitis Pigmentosa 25
Retinitis Pigmentosa 26 Retinitis Pigmentosa 28
Retinitis Pigmentosa 29 Retinitis Pigmentosa 3
Retinitis Pigmentosa 30 Retinitis Pigmentosa 31
Retinitis Pigmentosa 32 Retinitis Pigmentosa 33
Retinitis Pigmentosa 34 Retinitis Pigmentosa 35
Retinitis Pigmentosa 36 Retinitis Pigmentosa 4
Retinitis Pigmentosa 41 Retinitis Pigmentosa 6
Retinitis Pigmentosa 7 Retinitis Pigmentosa 9
Prph2-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa crb1-related retinitis pigmentosa
Abca4-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Crx-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Retinitis Pigmentosa 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 38 Retinitis Pigmentosa 47
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 49
Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa 43
Retinitis Pigmentosa 62 Retinitis Pigmentosa 48
Retinitis Pigmentosa 63 Retinitis Pigmentosa 42
Retinitis Pigmentosa 10 Retinitis Pigmentosa 64
Retinitis Pigmentosa 66 Retinitis Pigmentosa 44
Retinitis Pigmentosa 65 Retinitis Pigmentosa-50
Retinitis Pigmentosa 27 Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 45
Retinitis Pigmentosa 57 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 2

Symptoms for Crb1-Related Retinitis Pigmentosa

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Drugs & Therapeutics for Crb1-Related Retinitis Pigmentosa

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Crb1-Related Retinitis Pigmentosa

Search NIH Clinical Center for Crb1-Related Retinitis Pigmentosa

Genetic Tests for Crb1-Related Retinitis Pigmentosa

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Sources:
20GeneTests
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Genetic tests related to Crb1-Related Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Crb1-Related Retinitis Pigmentosa20 CRB1

Anatomical Context for Crb1-Related Retinitis Pigmentosa

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Animal Models for Crb1-Related Retinitis Pigmentosa or affiliated genes

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Publications for Crb1-Related Retinitis Pigmentosa

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Variations for Crb1-Related Retinitis Pigmentosa

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Crb1-Related Retinitis Pigmentosa:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
2CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
3CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
4CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
5CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
6CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
7CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
8CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300

Expression for genes affiliated with Crb1-Related Retinitis Pigmentosa

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Crb1-Related Retinitis Pigmentosa

Search GEO for disease gene expression data for Crb1-Related Retinitis Pigmentosa.

Pathways for genes affiliated with Crb1-Related Retinitis Pigmentosa

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Compounds for genes affiliated with Crb1-Related Retinitis Pigmentosa

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GO Terms for genes affiliated with Crb1-Related Retinitis Pigmentosa

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Products for genes affiliated with Crb1-Related Retinitis Pigmentosa

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crb1-Related Retinitis Pigmentosa

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet