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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BETHLEM MUSCULAR DYSTROPHY
610
COL12A1 Unknown Orphanet
COL6A1 Unknown Orphanet
COL6A2 Unknown Orphanet
COL6A3 Unknown Orphanet
BETHLEM MYOPATHY COL6A2 Causal GWAS catalog
COL12A1 Unknown CTD, GWAS catalog
COL6A1 Unknown CTD, GWAS catalog
COL6A3 Unknown GWAS catalog
BETHLEM MYOPATHY 1 COL12A1 Unknown — Disgenet
COL6A1 Unknown — Disgenet
COL6A2 Unknown — Disgenet
COL6A3 Unknown — Disgenet
DMPK Unknown — Disgenet
LMNA Unknown — Disgenet
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