Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 GeneticVariation group BEFREE Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. 31479583 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 GeneticVariation group BEFREE Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). 23913520 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 Biomarker group BEFREE For instance, point mutations, deletions or chromosomal translocations that target PHD fingers encoded by many genes (such as recombination activating gene 2 (RAG2), Inhibitor of Growth (ING), nuclear receptor-binding SET domain-containing 1 (NSD1) and Alpha Thalassaemia and Mental Retardation Syndrome, X-linked (ATRX)) have been associated with a wide range of human pathologies including immunological disorders, cancers, and neurological diseases. 18682256 2008
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 GeneticVariation group LHGDN Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. 12807965 2003
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 Biomarker group CTD_human Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. 12807965 2003
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.440 Biomarker group HPO