Gene table of COL12A1 : collagen type XII alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL12A1OMIM linkNumber of associated genesgenes
PS158810BETHLEM MYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 4COL6A2, COL12A1, COL6A3, COL6A1
PS254090ULLRICH CONGENITAL MUSCULAR DYSTROPHYClinVar, OMIM link to OMIM 4COL6A2, COL12A1, COL6A3, COL6A1

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Annotation of the gene COL12A1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1
extracellular matrix structural constituent conferring tensile strengthGO:00300207.95