Beckwith-wiedemann syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Beckwith-Wiedemann Syndrome C0004903 CDKN1C Causal Pathogenic evidence from ClinVar 9341892, 10424811, 10424812, 20503313, 22634751, 26077438 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar - ClinVar
NSD1 Causal Pathogenic evidence from ClinVar 12464997, 12807965, 14571271, 15742365, 15942875, 16222665, 16232326, 16247291, 21196496, 21972110, 22924495, 24412544, 26690673, 27604501, 28475857 ClinVar
H19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
H19-ICR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8252039, 9349812, 17325026, 26154720 -
KCNQ1OT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12949703 -
Beckwith-Wiedemann syndrome due to CDKN1C mutation 231120 CDKN1C Causal Pathogenic evidence from ClinVar - ClinVar
Beckwith-Wiedemann syndrome due to NSD1 mutation 238613 NSD1 Causal Pathogenic evidence from ClinVar - ClinVar
Beckwith-Wiedemann syndrome due to 11p15 microdeletion 231127 H19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 231117 H19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNQ1OT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -