Gene table of CASQ1 : calsequestrin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CASQ1	OMIM link	Number of associated genes	genes
616231	MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CASQ1

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function