Gene table of COL6A1 : collagen type VI alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL6A1OMIM linkNumber of associated genesgenes
PS158810BETHLEM MYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 4COL6A2, COL12A1, COL6A3, COL6A1
PS254090ULLRICH CONGENITAL MUSCULAR DYSTROPHYClinVar, OMIM, HUMSAVAR link to OMIM 4COL6A2, COL12A1, COL6A3, COL6A1

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Annotation of the gene COL6A1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 929, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
ECM-receptor interactionhsa045126.09
Focal adhesionhsa045104.92
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Integrin cell surface interactionsR-HSA-2160836.57
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
ECM proteoglycansR-HSA-30001786.75
NCAM signaling for neurite out-growthR-HSA-3751654.9
NCAM1 interactionsR-HSA-4190377.59
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Signal TransductionR-HSA-1625821.78
Signaling by PDGFR-HSA-1867974.53
Axon guidanceR-HSA-4224753.93
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
platelet-derived growth factor bindingGO:00484077.34
bindingGO:00054880.18
protein bindingGO:00055150.46
growth factor bindingGO:00198384.89