Disease: Beckwith-Wiedemann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784117
rs587784117
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs587784117
rs587784117
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0004903
Disease:
Beckwith-Wiedemann Syndrome 		T 0.700 CausalMutation CLINVAR NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 12464997 2003