MCID: VTR008
MIFTS: 17

Vitreoretinal Degeneration malady

Summaries for Vitreoretinal Degeneration

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32MalaCards
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MalaCards: Vitreoretinal Degeneration is related to snowflake vitreoretinal degeneration and retinal detachment. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Cell adhesion ECM remodeling and Non-integrin membrane-ECM interactions. Related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Vitreoretinal Degeneration

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

vitreoretinal degeneration 42 60


Related Diseases for Vitreoretinal Degeneration

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Vitreoretinal Degeneration:



Diseases related to vitreoretinal degeneration

Clinical Features for Vitreoretinal Degeneration

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Drugs & Therapeutics for Vitreoretinal Degeneration

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

Search CenterWatch for Vitreoretinal Degeneration

Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Degeneration

Search NIH Clinical Center for Vitreoretinal Degeneration

Search CenterWatch for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

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Anatomical Context for Vitreoretinal Degeneration

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Animal Models for Vitreoretinal Degeneration or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vitreoretinal Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL4A3, COL2A1, COL11A1

Publications for Vitreoretinal Degeneration

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Genetic Variations for Vitreoretinal Degeneration

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Expression for genes affiliated with Vitreoretinal Degeneration

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitreoretinal Degeneration

Search GEO for disease gene expression data for Vitreoretinal Degeneration.

Pathways for genes affiliated with Vitreoretinal Degeneration

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Sources:
12EMD Millipore, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
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9.6COL2A1, COL4A3
2
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9.5COL2A1, COL11A1
3
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9.1COL2A1, COL4A3, COL11A1
49.1COL2A1, COL4A3, COL11A1
59.1COL2A1, COL11A1, COL4A3
6
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9.0COL9A2, COL4A3, COL2A1
7
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9.0COL9A2, COL4A3, COL2A1
8
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9.0COL2A1, COL9A2, COL4A3
9
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7.6COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
10
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7.6COL9A2, COL11A1, COL18A1, COL4A3, COL2A1
11
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7.6COL18A1, COL9A2, COL2A1, COL4A3, COL11A1
12
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7.6COL9A2, COL18A1, COL4A3, COL11A1, COL2A1
137.3KCNJ13, COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
14
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7.3COL2A1, COL11A1, COL4A3, COL18A1, COL9A2, LEPREL1

Compounds for genes affiliated with Vitreoretinal Degeneration

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GO Terms for genes affiliated with Vitreoretinal Degeneration

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Sources:
16Gene Ontology
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Cellular components related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056048.1COL2A1, COL4A3, COL18A1, LEPREL1
2extracellular regionGO:0055767.6COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
3endoplasmic reticulum lumenGO:0057887.2COL11A1, COL2A1, COL9A2, COL4A3, COL18A1, LEPREL1

Biological processes related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.7COL11A1, COL2A1
2cartilage condensationGO:0015029.7COL2A1, COL11A1
3collagen fibril organizationGO:0301999.5COL11A1, COL2A1
4inner ear morphogenesisGO:0424729.5COL2A1, COL11A1
5sensory perception of soundGO:0076059.2COL11A1, COL2A1, COL4A3
6axon guidanceGO:0074118.9COL2A1, COL9A2, COL4A3
7visual perceptionGO:0076018.8COL18A1, COL11A1, COL2A1
8negative regulation of cell proliferationGO:0082858.5LEPREL1, COL18A1, COL4A3
9collagen catabolic processGO:0305747.9COL9A2, COL11A1, COL18A1, COL2A1, COL4A3
10extracellular matrix disassemblyGO:0226177.9COL18A1, COL9A2, COL4A3, COL2A1, COL11A1
11extracellular matrix organizationGO:0301987.5COL2A1, LEPREL1, COL11A1, COL18A1, COL4A3, COL9A2

Molecular functions related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.5COL4A3, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300209.1COL9A2, COL2A1

Products for genes affiliated with Vitreoretinal Degeneration

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vitreoretinal Degeneration

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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