Gene table of COL13A1 : collagen type XIII alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL13A1OMIM linkNumber of associated genesgenes
PS601462MYASTHENIC SYNDROME, CONGENITALOMIM link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene COL13A1

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
Integrin cell surface interactionsR-HSA-2160836.57
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Associated GO terms for Molecular function
GO termGO IDGO IC
sulfur compound bindingGO:19016814.32
carbohydrate derivative bindingGO:00973672.03
glycosaminoglycan bindingGO:00055394.42
bindingGO:00054880.18
protein bindingGO:00055150.46
heparin bindingGO:00082014.68