RP 12
MCID: RTN042
MIFTS: 18

Retinitis Pigmentosa 12 (RP 12) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Retinitis Pigmentosa 12

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34MalaCards
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MalaCards: Retinitis Pigmentosa 12, also known as RP 12, is related to crb1-related retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 12 is CRB1 (crumbs family member 1, photoreceptor morphogenesis associated).

Aliases & Classifications for Retinitis Pigmentosa 12

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Sources:
44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

retinitis pigmentosa 12 44 23 63
rp 12 44


Related Diseases for Retinitis Pigmentosa 12

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Sources:
18GeneCards, 19GeneDecks
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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

Diseases related to Retinitis Pigmentosa 12 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1crb1-related retinitis pigmentosa10.2

Symptoms for Retinitis Pigmentosa 12

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Drugs & Therapeutics for Retinitis Pigmentosa 12

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinitis Pigmentosa 12

Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa 12

Search NIH Clinical Center for Retinitis Pigmentosa 12

Search CenterWatch for Retinitis Pigmentosa 12

Genetic Tests for Retinitis Pigmentosa 12

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Sources:
23GTR
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Genetic tests related to Retinitis Pigmentosa 12:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 1223

Anatomical Context for Retinitis Pigmentosa 12

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Animal Models for Retinitis Pigmentosa 12 or affiliated genes

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Publications for Retinitis Pigmentosa 12

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Variations for Retinitis Pigmentosa 12

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Retinitis Pigmentosa 12:

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 Retinitis Pigmentosa 12

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa 12

Search GEO for disease gene expression data for Retinitis Pigmentosa 12.

Pathways for genes affiliated with Retinitis Pigmentosa 12

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Compounds for genes affiliated with Retinitis Pigmentosa 12

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GO Terms for genes affiliated with Retinitis Pigmentosa 12

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Products for genes affiliated with Retinitis Pigmentosa 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa 12

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet