Disease: SOTOS SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. 30719864 2019
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor. 26738611 2016
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease CLINVAR Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome. 26896805 2016
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease BEFREE It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear receptor-binding SET Domain protein 1) on chromosome 5q35.2-35.3 in 90% of the patients: Sotos syndrome 1. 25345081 2014
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. 17565729 2007
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Familial gigantism caused by an NSD1 mutation. 16222665 2005
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease UNIPROT Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 14997421 2004
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 CausalMutation disease CLINVAR Identification of eight novel NSD1 mutations in Sotos syndrome. 14627693 2003
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease UNIPROT Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease UNIPROT 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: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 GeneticVariation disease UNIPROT Haploinsufficiency of NSD1 causes Sotos syndrome. 11896389 2002
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND