MCID: CLL018
MIFTS: 14

Collagen Type Vi-Related Disorders malady

Genetic diseases (common) category

Aliases & Classifications for Collagen Type Vi-Related Disorders

About this section

Aliases & Descriptions for Collagen Type Vi-Related Disorders:

Name: Collagen Type Vi-Related Disorders 19 20


Classifications:



Summaries for Collagen Type Vi-Related Disorders

About this section
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 Phospholipase-C Pathway.

GeneReviews summary for bethlem

Related Diseases for Collagen Type Vi-Related Disorders

About this section

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.0COL6A3, COL6A1
2bethlem myopathy9.6COL6A2, COL6A3, COL6A1
3ullrich congenital muscular dystrophy9.6COL6A1, COL6A3, COL6A2
4down syndrome9.6COL6A1, COL6A3, COL6A2
5myopathy9.5COL6A2, COL6A3, COL6A1

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

About this section

Drugs & Therapeutics for Collagen Type Vi-Related Disorders

About this section

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

About this section

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

About this section

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

About this section

Publications for Collagen Type Vi-Related Disorders

About this section

Articles related to Collagen Type Vi-Related Disorders:

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

Variations for Collagen Type Vi-Related Disorders

About this section

Expression for genes affiliated with Collagen Type Vi-Related Disorders

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

Pathways for genes affiliated with Collagen Type Vi-Related Disorders

About this section

Pathways related to Collagen Type Vi-Related Disorders according to GeneCards Suite gene sharing:

(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, COL6A3, COL6A1
3
Show member pathways
8.5COL6A2, COL6A3, COL6A1
4
Show member pathways
8.5COL6A2, COL6A3, COL6A1
5
Show member pathways
8.5COL6A2, COL6A3, COL6A1
68.5COL6A2, COL6A3, COL6A1
7
Show member pathways
8.5COL6A2, COL6A3, COL6A1
8
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5COL6A2, COL6A3, COL6A1
98.5COL6A1, COL6A3, COL6A2
10
Show member pathways
8.5COL6A1, COL6A3, COL6A2
11
Show member pathways
8.5COL6A1, COL6A3, COL6A2
12
Show member pathways
8.5COL6A1, COL6A3, COL6A2

Compounds for genes affiliated with Collagen Type Vi-Related Disorders

About this section

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

About this section

Cellular components related to Collagen Type Vi-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00055899.4COL6A3, COL6A1
2protein complexGO:00432349.0COL6A2, COL6A1
3sarcolemmaGO:00423838.7COL6A2, COL6A3, COL6A1
4extracellular matrixGO:00310128.6COL6A2, COL6A3, COL6A1
5endoplasmic reticulum lumenGO:00057888.5COL6A1, COL6A3, COL6A2
6extracellular regionGO:00055768.4COL6A2, COL6A3, COL6A1
7extracellular vesicular exosomeGO:00700628.2COL6A2, COL6A3, COL6A1

Biological processes related to Collagen Type Vi-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:00702089.0COL6A2, COL6A1
2collagen catabolic processGO:00305748.6COL6A2, COL6A3, COL6A1
3extracellular matrix disassemblyGO:00226178.6COL6A2, COL6A3, COL6A1
4cell adhesionGO:00071558.5COL6A2, COL6A3, COL6A1
5extracellular matrix organizationGO:00301988.4COL6A1, COL6A3, COL6A2
6axon guidanceGO:00074118.2COL6A2, COL6A3, COL6A1

Sources for Collagen Type Vi-Related Disorders

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet