MCID: CLL018
MIFTS: 17

Collagen Type Vi-Related Disorders malady

Genetic diseases (common) category
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Summaries for Collagen Type Vi-Related Disorders

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MalaCards based summary: 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 L1CAM interactions and NCAM signaling for neurite out-growth.

GeneReviews summary for bethlem

Aliases & Classifications for Collagen Type Vi-Related Disorders

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Collagen Type Vi-Related Disorders, Aliases & Descriptions:

Name: Collagen Type Vi-Related Disorders 19 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Collagen Type Vi-Related Disorders

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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 myopathy9.6COL6A1, COL6A3, COL6A2
3ullrich congenital muscular dystrophy9.6COL6A1, COL6A3, COL6A2
4down syndrome9.6COL6A1, COL6A3, COL6A2
5myopathy9.5COL6A1, COL6A3, COL6A2

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



Diseases related to collagen type vi-related disorders

Symptoms for Collagen Type Vi-Related Disorders

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Drugs & Therapeutics for Collagen Type Vi-Related Disorders

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Drug clinical trials:

Search ClinicalTrials for Collagen Type Vi-Related Disorders

Search NIH Clinical Center for Collagen Type Vi-Related Disorders

Genetic Tests for Collagen Type Vi-Related Disorders

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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

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

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Publications for Collagen Type Vi-Related Disorders

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Articles related to Collagen Type Vi-Related Disorders:

idTitleAuthorsYear
1
Collagen Type VI-Related Disorders (20301676)
1993

Variations for Collagen Type Vi-Related Disorders

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Expression for genes affiliated with Collagen Type Vi-Related Disorders

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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

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5COL6A2, COL6A3, COL6A1
2
Show member pathways
8.5COL6A2, COL6A1, COL6A3
3
Show member pathways
8.5COL6A1, COL6A2, COL6A3
4
Show member pathways
8.5COL6A2, COL6A3, COL6A1
5
Show member pathways
8.5COL6A3, COL6A2, COL6A1
6
Show member pathways
8.5COL6A1, COL6A3, COL6A2
7
Show member pathways
8.5COL6A1, COL6A3, COL6A2
8
Show member pathways
8.5COL6A1, COL6A3, COL6A2
98.5COL6A1, COL6A3, COL6A2
108.5COL6A1, COL6A3, COL6A2
11
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.5COL6A1, COL6A3, COL6A2
12
Show member pathways
8.5COL6A1, COL6A3, COL6A2

Compounds for genes affiliated with Collagen Type Vi-Related Disorders

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

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Cellular components related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.4COL6A3, COL6A1
2protein complexGO:0432349.0COL6A2, COL6A1
3sarcolemmaGO:0423838.7COL6A1, COL6A3, COL6A2
4extracellular matrixGO:0310128.6COL6A3, COL6A2, COL6A1
5endoplasmic reticulum lumenGO:0057888.5COL6A1, COL6A3, COL6A2
6extracellular regionGO:0055768.4COL6A2, COL6A1, COL6A3
7extracellular vesicular exosomeGO:0700628.2COL6A2, COL6A3, COL6A1

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

idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:0702089.0COL6A2, COL6A1
2collagen catabolic processGO:0305748.6COL6A1, COL6A3, COL6A2
3extracellular matrix disassemblyGO:0226178.6COL6A1, COL6A2, COL6A3
4cell adhesionGO:0071558.5COL6A1, 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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Collagen Type Vi-Related Disorders

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet