rs587784169, NSD1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.800 GeneticVariation UNIPROT Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 14997421 2004
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.800 GeneticVariation UNIPROT Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.800 GeneticVariation 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
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.800 GeneticVariation UNIPROT Haploinsufficiency of NSD1 causes Sotos syndrome. 11896389 2002
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
0.800 CausalMutation CLINVAR
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
0.700 CausalMutation CLINVAR