MCID: RTN096
MIFTS: 11

Retinitis Pigmentosa-12, Autosomal Recessive malady

Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

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46OMIM, 32MalaCards
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MalaCards: Retinitis Pigmentosa-12, Autosomal Recessive An important gene associated with Retinitis Pigmentosa-12, Autosomal Recessive is CRB1 (crumbs homolog 1 (Drosophila)).

Description from OMIM:46 600105

Aliases & Classifications for Retinitis Pigmentosa-12, Autosomal Recessive

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46OMIM
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Aliases & Descriptions:

retinitis pigmentosa-12, autosomal recessive 46


Related Diseases for Retinitis Pigmentosa-12, Autosomal Recessive

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Clinical Features for Retinitis Pigmentosa-12, Autosomal Recessive

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46OMIM
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Clinical features from OMIM:

600105

Clinical synopsis from OMIM:

600105

Drugs & Therapeutics for Retinitis Pigmentosa-12, Autosomal Recessive

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinitis Pigmentosa-12, Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa-12, Autosomal Recessive

Search NIH Clinical Center for Retinitis Pigmentosa-12, Autosomal Recessive

Search CenterWatch for Retinitis Pigmentosa-12, Autosomal Recessive

Genetic Tests for Retinitis Pigmentosa-12, Autosomal Recessive

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Anatomical Context for Retinitis Pigmentosa-12, Autosomal Recessive

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Animal Models for Retinitis Pigmentosa-12, Autosomal Recessive or affiliated genes

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Publications for Retinitis Pigmentosa-12, Autosomal Recessive

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Genetic Variations for Retinitis Pigmentosa-12, Autosomal Recessive

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinitis Pigmentosa-12, Autosomal Recessive:

62 (show all 36)
id Symbol AA change Variation ID SNP ID
1CRB1p.Ala161ValVAR_011641
2CRB1p.Cys250TrpVAR_011642
3CRB1p.Thr745MetVAR_011643rs28939720
4CRB1p.Arg764CysVAR_011644
5CRB1p.Cys948TyrVAR_011645
6CRB1p.Met1041ThrVAR_011646
7CRB1p.Leu1071ProVAR_011647
8CRB1p.Cys1181ArgVAR_011649
9CRB1p.Cys195PheVAR_022943
10CRB1p.Tyr433CysVAR_022947
11CRB1p.Val578GluVAR_022950
12CRB1p.Cys587TyrVAR_022952
13CRB1p.Pro836ThrVAR_022960rs116471343
14CRB1p.Asp837HisVAR_022961
15CRB1p.Gly846ArgVAR_022962
16CRB1p.Gly850SerVAR_022963
17CRB1p.Cys891GlyVAR_022965
18CRB1p.Asn894SerVAR_022966
19CRB1p.Asn986IleVAR_022970
20CRB1p.Ile1100ThrVAR_022973
21CRB1p.Gly1103ArgVAR_022974
22CRB1p.Arg1383HisVAR_022983rs200573274
23CRB1p.Cys27PheVAR_064180
24CRB1p.Cys1165TrpVAR_064181
25CRB1p.Cys45TrpVAR_067125
26CRB1p.Cys157SerVAR_067126
27CRB1p.Asn312LysVAR_067130
28CRB1p.Trp675CysVAR_067139
29CRB1p.Glu710ValVAR_067140
30CRB1p.Ser740PheVAR_067141
31CRB1p.Leu1012SerVAR_067149
32CRB1p.Ser1025AsnVAR_067150
33CRB1p.Thr1099LysVAR_067151
34CRB1p.Cys1174GlyVAR_067153
35CRB1p.Pro1305LeuVAR_067156
36CRB1p.Lys534AsnVAR_068363

Expression for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

Search GEO for disease gene expression data for Retinitis Pigmentosa-12, Autosomal Recessive.

Pathways for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Compounds for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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GO Terms for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Products for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa-12, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet