MCID: EXD004

Exudative Vitreoretinopathy 4 malady

Summaries for Exudative Vitreoretinopathy 4

Sources:
47OMIM, 33MalaCards
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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:47 601813

Aliases & Classifications for Exudative Vitreoretinopathy 4

Sources:
47OMIM, 61UMLS
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Aliases & Descriptions:

exudative vitreoretinopathy 4 47 61


Related Diseases for Exudative Vitreoretinopathy 4

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 recessive10.3

Clinical Features for Exudative Vitreoretinopathy 4

Sources:
47OMIM
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Clinical features from OMIM:

601813

Clinical synopsis from OMIM:

601813

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Exudative Vitreoretinopathy 4

Animal Models for Exudative Vitreoretinopathy 4 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Exudative Vitreoretinopathy 4

Genetic Variations for Exudative Vitreoretinopathy 4

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Exudative Vitreoretinopathy 4:

63 (show all 19)
id Symbol AA change Variation 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

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

Compounds for genes affiliated with Exudative Vitreoretinopathy 4

GO Terms for genes affiliated with Exudative Vitreoretinopathy 4

Products for genes affiliated with Exudative Vitreoretinopathy 4

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exudative Vitreoretinopathy 4

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet