MCID: CLL018
MIFTS: 14

Collagen Type Vi-Related Disorders malady

Summaries for Collagen Type Vi-Related Disorders

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Sources:
19GeneReviews, 32MalaCards
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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

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19GeneReviews, 20GeneTests
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Aliases & Descriptions:

collagen type vi-related disorders 19 20


Related Diseases for Collagen Type Vi-Related Disorders

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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

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Drugs & Therapeutics for Collagen Type Vi-Related Disorders

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Sources:
5CenterWatch, 41NIH 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

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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

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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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Sources:
50PubMed
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Articles related to Collagen Type Vi-Related Disorders:

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

Genetic 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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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

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Sources:
51QIAGEN, 29KEGG, 53Reactome, 37NCBI 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
Hide members
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
Hide members
8.5COL6A1, COL6A3, COL6A2
9
Hide members
8.5COL6A1, COL6A3, COL6A2
10
Hide members
8.5COL6A1, COL6A3, COL6A2
11
Hide members
8.5COL6A1, COL6A3, COL6A2
128.5COL6A1, COL6A3, COL6A2
13
Hide members
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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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:0423838.6COL6A1, COL6A3, COL6A2
4extracellular matrixGO:0310128.5COL6A1, COL6A3, COL6A2
5endoplasmic reticulum lumenGO:0057888.4COL6A2, COL6A3, COL6A1
6extracellular regionGO:0055768.2COL6A1, COL6A3, COL6A2

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet