Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611

2018

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385

2018

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371

2016

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601

2016

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. 27375234

2016

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 24680889

2014

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. 23613140

2013

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation. 22986149

2013

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability. 22965684

2012

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. 21082655

2010

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Microarray based analysis of 3p25-p26 deletions (3p- syndrome). 19760623

2009

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR The control of histone lysine methylation in epigenetic regulation. 16919862

2007

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Genome-wide atlas of gene expression in the adult mouse brain. 17151600

2007

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993

2006

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR SET domain protein lysine methyltransferases: Structure, specificity and catalysis. 17013555

2006

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. 15774718

2005

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR The SET-domain protein superfamily: protein lysine methyltransferases. 16086857

2005

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR GenePaint.org: an atlas of gene expression patterns in the mouse embryo. 14681479

2004

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR NSD1 is essential for early post-implantation development and has a catalytically active SET domain. 12805229

2003

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Structure and catalytic mechanism of the human histone methyltransferase SET7/9. 12540855

2003

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. 12130538

2002

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR The polycomb-group gene Ezh2 is required for early mouse development. 11390661

2001

dbSNP: rs797044953
rs797044953
T 0.700 GeneticVariation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000