Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? 23913520 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR The NSD1 and EZH2 overgrowth genes, similarities and differences. 23592277 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. 23599694 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease BEFREE Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. 21567906 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Sotos syndrome. 17825104 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Haploinsufficiency of NSD1 causes Sotos syndrome. 11896389 2002