Disease: Weaver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 GeneticVariation disease BEFREE By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. 26690673 2015
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 Biomarker disease BEFREE NSD1 aberrations have also been described in some patients diagnosed as Weaver syndrome. 15742365 2005
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 GeneticVariation disease BEFREE NSD1 gene mutations were not found in the two patients with Weaver syndrome. 16232326 2005
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 Biomarker disease GENOMICS_ENGLAND Familial gigantism caused by an NSD1 mutation. 16222665 2005
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 GeneticVariation disease BEFREE Three patients with Weaver syndrome had NSD1 mutations, all between amino acids 2142 and 2184. 12464997 2003
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 Biomarker disease CTD_human We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series. 12807965 2003
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 GeneticVariation disease BEFREE We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series. 12807965 2003
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.650 GeneticVariation disease ORPHANET