Beckwith-wiedemann syndrome

Disease Term Disease ID Gene Symbol Classification References Source
BECKWITH-WIEDEMANN SYNDROME
130650C0004903MESH:D001506MONDO:0007534
CDKN1C Causal
22634751
CTD ClinVar Disgenet GenCC HPO
IGF2 Causal
8252039 9349812
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
231120C5680918MONDO:0016476
CDKN1C Unknown
20301568 20803657 26077438
Disgenet GWAS catalog Orphanet
BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15
231117C5680922
IGF2 Unknown
20301568 20803657 21863054
Disgenet Orphanet
BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION
C5680933MONDO:0016547
NSD1 Unknown — Disgenet GenCC