MCID: EXD004
MIFTS: 11

Exudative Vitreoretinopathy 4 malady

Summaries for Exudative Vitreoretinopathy 4

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Sources:
46OMIM, 32MalaCards
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MalaCards: Exudative Vitreoretinopathy 4 is related to lrp5-related familial exudative vitreoretinopathy, autosomal recessive. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (low density lipoprotein receptor-related protein 5).

Description from OMIM:46 601813

Aliases & Classifications for Exudative Vitreoretinopathy 4

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Sources:
46OMIM, 60UMLS
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Aliases & Descriptions:

exudative vitreoretinopathy 4 46 60


Related Diseases for Exudative Vitreoretinopathy 4

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy-3
exudative vitreoretinopathy 4

Diseases related to Exudative Vitreoretinopathy 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.2

Clinical Features for Exudative Vitreoretinopathy 4

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46OMIM
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Clinical features from OMIM:

601813

Clinical synopsis from OMIM:

601813

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

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

Search CenterWatch for Exudative Vitreoretinopathy 4

Drug clinical trials:

Search ClinicalTrials for Exudative Vitreoretinopathy 4

Search NIH Clinical Center for Exudative Vitreoretinopathy 4

Search CenterWatch for Exudative Vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

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Anatomical Context for Exudative Vitreoretinopathy 4

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Animal Models for Exudative Vitreoretinopathy 4 or affiliated genes

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Publications for Exudative Vitreoretinopathy 4

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Genetic Variations for Exudative Vitreoretinopathy 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Exudative Vitreoretinopathy 4:

62 (show all 19)
id Symbol AA change Variation ID SNP ID
1LRP5p.Thr173MetVAR_018465
2LRP5p.Tyr1168HisVAR_018466
3LRP5p.Cys1361GlyVAR_018467
4LRP5p.Arg570GlnVAR_021222
5LRP5p.Arg752GlyVAR_021223
6LRP5p.Glu1367LysVAR_021224rs28939709
7LRP5p.Leu145PheVAR_063943
8LRP5p.Glu441LysVAR_063956
9LRP5p.Arg444CysVAR_063957
10LRP5p.Asp511AlaVAR_063962
11LRP5p.Ala522ThrVAR_063964
12LRP5p.Thr535MetVAR_063966
13LRP5p.Gly550ArgVAR_063967
14LRP5p.Gly610ArgVAR_063968
15LRP5p.Phe617CysVAR_063969
16LRP5p.Thr798AlaVAR_063972
17LRP5p.Arg805TrpVAR_063973
18LRP5p.Asn1121AspVAR_063977rs80358317
19LRP5p.Cys1253PheVAR_063978

Expression for genes affiliated with Exudative Vitreoretinopathy 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exudative Vitreoretinopathy 4

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 4.

Pathways for genes affiliated with Exudative Vitreoretinopathy 4

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Compounds for genes affiliated with Exudative Vitreoretinopathy 4

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GO Terms for genes affiliated with Exudative Vitreoretinopathy 4

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Products for genes affiliated with Exudative Vitreoretinopathy 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exudative Vitreoretinopathy 4

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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