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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A COL6A1 Causal — ClinVar, GenCC, HPO
COL6A2 Causal — GenCC
COL6A3 Causal — GenCC
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B COL6A2 Causal ClinVar, Disgenet, GWAS catalog, HPO
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C COL6A3 Causal ClinVar, Disgenet, GWAS catalog, HPO
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 COL12A1 Causal ClinVar, Disgenet, GWAS catalog, HPO
All4 Causal4 Unknown4