MCID: CLL018

Collagen Type Vi-Related Disorders malady

Summaries for Collagen Type Vi-Related Disorders

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Collagen Type Vi-Related Disorders is related to muscular dystrophy and bethlem myopathy. An important gene associated with Collagen Type Vi-Related Disorders is COL6A1 (collagen, type VI, alpha 1), and among its related pathways are PTEN Pathway and Rho Family GTPases.

GeneReviews summary for bethlem

Aliases & Classifications for Collagen Type Vi-Related Disorders

Sources:
19GeneReviews, 20GeneTests
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Aliases & Descriptions:

collagen type vi-related disorders 19 20


Related Diseases for Collagen Type Vi-Related Disorders

Sources:
17GeneCards, 18GeneDecks
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Diseases in the collagen disease family:

collagen type vi-related disorders

Diseases related to Collagen Type Vi-Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.0COL6A3, COL6A1
2bethlem myopathy10.0COL6A2, COL6A3, COL6A1
3ullrich congenital muscular dystrophy10.0COL6A2, COL6A3, COL6A1
4myopathy10.0COL6A3, COL6A2, COL6A1
5down syndrome10.0COL6A3, COL6A2, COL6A1

Graphical network of diseases related to Collagen Type Vi-Related Disorders:



Diseases related to collagen type vi-related disorders

Clinical Features for Collagen Type Vi-Related Disorders

Drugs & Therapeutics for Collagen Type Vi-Related Disorders

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Collagen Type Vi-Related Disorders

Drug clinical trials:

Search ClinicalTrials for Collagen Type Vi-Related Disorders

Search NIH Clinical Center for Collagen Type Vi-Related Disorders

Search CenterWatch for Collagen Type Vi-Related Disorders

Genetic Tests for Collagen Type Vi-Related Disorders

Sources:
20GeneTests
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Genetic tests related to Collagen Type Vi-Related Disorders:

id Genetic test Affiliating Genes
1 Collagen Type Vi-related Disorders20 COL6A1, COL6A2, COL6A3

Anatomical Context for Collagen Type Vi-Related Disorders

Animal Models for Collagen Type Vi-Related Disorders or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Collagen Type Vi-Related Disorders

Genetic Variations for Collagen Type Vi-Related Disorders

Expression for genes affiliated with Collagen Type Vi-Related Disorders

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Collagen Type Vi-Related Disorders

Search GEO for disease gene expression data for Collagen Type Vi-Related Disorders.

Pathways for genes affiliated with Collagen Type Vi-Related Disorders

Sources:
52QIAGEN, 30KEGG, 54Reactome, 38NCBI BioSystems Database
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Pathways related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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8.5COL6A2, COL6A3, COL6A1
2
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8.5COL6A2, COL6A3, COL6A1
38.5COL6A2, COL6A3, COL6A1
4
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8.5COL6A2, COL6A3, COL6A1
5
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8.5COL6A2, COL6A3, COL6A1
6
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8.5COL6A1, COL6A3, COL6A2
7
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8.5COL6A1, COL6A3, COL6A2
8
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8.5COL6A1, COL6A3, COL6A2
9
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8.5COL6A1, COL6A3, COL6A2
10
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8.5COL6A1, COL6A3, COL6A2
11
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8.5COL6A1, COL6A3, COL6A2
128.5COL6A1, COL6A3, COL6A2
13
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8.5COL6A1, COL6A3, COL6A2

Compounds for genes affiliated with Collagen Type Vi-Related Disorders

GO Terms for genes affiliated with Collagen Type Vi-Related Disorders

Sources:
16Gene Ontology
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Cellular components related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.4COL6A1, COL6A3
2protein complexGO:0432349.0COL6A1, COL6A2
3sarcolemmaGO:0423838.6COL6A2, COL6A3, COL6A1
4extracellular matrixGO:0310128.5COL6A1, COL6A3, COL6A2
5endoplasmic reticulum lumenGO:0057888.4COL6A2, COL6A3, COL6A1
6extracellular regionGO:0055768.2COL6A1, COL6A2, COL6A3

Biological processes related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:0071559.3COL6A1, COL6A3
2protein heterotrimerizationGO:0702089.0COL6A1, COL6A2
3collagen catabolic processGO:0305748.6COL6A1, COL6A3, COL6A2
4extracellular matrix disassemblyGO:0226178.6COL6A1, COL6A3, COL6A2
5extracellular matrix organizationGO:0301988.4COL6A2, COL6A3, COL6A1
6axon guidanceGO:0074118.2COL6A1, COL6A3, COL6A2

Products for genes affiliated with Collagen Type Vi-Related Disorders

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Collagen Type Vi-Related Disorders

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