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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BECKWITH-WIEDEMANN SYNDROME CDKN1C Causal CTD, ClinVar, Disgenet, GenCC, HPO
IGF2 Causal CTD, ClinVar, Disgenet, HPO
KCNQ1 Causal — CTD, ClinVar, Disgenet, HPO
NSD1 Causal — Disgenet
- Unknown — HPO —
DNMT1 Unknown — Disgenet
IGF2R Unknown — Disgenet
INS-IGF2 Unknown — Disgenet —
PIK3CA Unknown — Disgenet
Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
ZNF215 Unknown — Disgenet
BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION CDKN1C Unknown Disgenet, GWAS catalog, Orphanet, ClinGen
BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15 IGF2 Unknown Disgenet, Orphanet
BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION NSD1 Unknown Disgenet, GenCC
All10 Causal4 Unknown9