Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? 23913520

2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The NSD1 and EZH2 overgrowth genes, similarities and differences. 23592277

2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. 23599694

2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Sotos syndrome. 17825104

2007
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875

2005
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965

2003
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271

2003
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Haploinsufficiency of NSD1 causes Sotos syndrome. 11896389

2002