Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 CausalMutation disease CLINVAR
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 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 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 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 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 CausalMutation disease CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Somatic-gonadal mosaicism causing Sotos syndrome. 27604501 2016
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 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: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 15742365 2005
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 15942875 2005
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 14571271 2003
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 22924495 2012
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1. 24412544 2014
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 16247291 2005
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 16232326 2005
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.430 CausalMutation disease CLINVAR Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.410 CausalMutation disease CLINVAR
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.120 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation phenotype CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 CausalMutation phenotype CLINVAR
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 Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003