Beckwith-wiedemann syndrome
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 | |||
| 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 |