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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
FACIOSCAPULOHUMERAL DYSTROPHY
269
DNMT3B Unknown Orphanet
DUX4 Unknown — Orphanet —
FRG1 Unknown Orphanet —
SMCHD1 Unknown Orphanet —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY DNMT3B Unknown HPO
SMCHD1 Unknown Disgenet —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 FRG1 Unknown — ClinVar, Disgenet, HPO —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A FRG1 Unknown — CTD —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B SMCHD1 Unknown CTD, Disgenet —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 SMCHD1 Causal — ClinVar —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC SMCHD1 Unknown — HPO —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC LRIF1 Causal ClinVar, Disgenet, HPO —
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC DNMT3B Causal — ClinVar, Disgenet, HPO
All5 Causal3 Unknown4