×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
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
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
26257172
2015
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Familial gigantism caused by an NSD1 mutation.
16222665
2005
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
15942875
2005
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
15942875
2005
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
GeneticVariation
disease
UNIPROT
Haploinsufficiency of NSD1 causes Sotos syndrome.
11896389
2002
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
17565729
2007
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
30719864
2019
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Identification of eight novel NSD1 mutations in Sotos syndrome.
14627693
2003
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
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
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
15742365
2005
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
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
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
GeneticVariation
disease
UNIPROT
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
14997421
2004
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
26738611
2016
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
CausalMutation
disease
CLINVAR
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
12807965
2003
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
GeneticVariation
disease
UNIPROT
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
12807965
2003
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.610
GeneticVariation
disease
CLINVAR
Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.
26896805
2016