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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BETHLEM MYOPATHY COL6A2 Causal GWAS catalog
BETHLEM MYOPATHY 1A COL6A1 Causal ClinVar, GWAS catalog, HPO
COL6A2 Causal — GenCC
COL6A3 Causal — GenCC
BETHLEM MYOPATHY 1B COL6A2 Causal ClinVar, Disgenet, HPO
BETHLEM MYOPATHY 1C COL6A3 Causal ClinVar, Disgenet, HPO
BETHLEM MYOPATHY 2 COL12A1 Causal ClinVar, Disgenet, GWAS catalog, GenCC, HPO
All6 Causal4 Unknown6