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 GeneticVariation disease BEFREE The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype. 12353270 2002
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE NSD1 is mutated in carcinoma of the upper aerodigestive tract (www.sanger.ac.uk/genetics/CGP/cosmic/) and also fuses to NUP98 in acute myeloid leukemia. 22287508 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE Chimeric NUP98-NSD1 transcripts from the cryptic t(5;11)(q35.2;p15.4) in adult de novo acute myeloid leukemia. 28776436 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE Our data suggest that dasatinib-navitoclax combination may offer a clinically relevant treatment strategy for AML with NUP98-NSD1 and concomitant FLT3-ITD. 30568173 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis. 23999921 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE Breakpoint mapping by FISH and reverse transcriptase polymerase chain reaction (RT-PCR) analysis confirmed that this was the same t(5;11) as previously identified in 3 children with AML, associated with del(5q) and resulting in the NUP98-NSD1 gene fusion. 11895789 2002
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE Haploinsufficiency of the NSD1 gene is a hallmark of Sotos syndrome, and rearrangements of this gene by translocation can cause acute myeloid leukemia. 15169884 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation disease BEFREE In a newly diagnosed patient with AML, conventional karyotyping showed translocation t(10;12)(q22;p13) but RNA NGS detected NUP98-NSD1 fusion transcripts from a known cryptic translocation t(5;11)(q35;p15). 31473470 2019
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE MLPA is a robust, inexpensive, simple technique that reliably detects both 5q35 microdeletions and partial NSD1 deletions that together account for approximately 15% of Sotos syndrome. 16140999 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. 21972110 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. 26690673 2015
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. 14517949 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 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: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Twenty-nine participants (21 males, 8 females) clinically suspected of Sotos syndrome (mean age 11y 10mo [SD 10y 11mo], range 1y 10mo-48y 5mo) were divided into an NSD1 mutation group (n=12; 8 males, 4 females) and an NSD1 non-mutation group (n=17; 13 males, 4 females). 16780628 2006
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Blood samples from patients with Sotos syndrome and NSD1-mutant tumours also exhibit hypomethylation of intergenic DNA. 31485078 2019
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. 16770806 2006
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Clinical features typically associated with Sotos syndrome were not found to be significantly different between individuals with and without NSD1 abnormalities. 16247291 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected. 15452385 2004
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We describe a 63-year-old woman with classic features and a pathogenic NSD1 mutation, who we believe to be the oldest reported person with Sotos syndrome. 21834047 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome. 26738611 2016
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 19876911 2009
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is known to be the major cause of SoS. 15580547 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 15720303 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE The 'NSD1 subtypes' of HNSC and LUSC are highly correlated at the DNA methylation and gene expression levels, featuring ectopic expression of developmental transcription factors and genes that are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations. 29213088 2017