Gene: SETD5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 Biomarker disease BEFREE A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. 28881385 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. 27375234 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease BEFREE We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. 27375234 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 24680889 2014
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. 23613140 2013
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation. 22986149 2013
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability. 22965684 2012
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. 21082655 2010
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Microarray based analysis of 3p25-p26 deletions (3p- syndrome). 19760623 2009
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR The control of histone lysine methylation in epigenetic regulation. 16919862 2007
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Genome-wide atlas of gene expression in the adult mouse brain. 17151600 2007
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993 2006
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR SET domain protein lysine methyltransferases: Structure, specificity and catalysis. 17013555 2006
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR The SET-domain protein superfamily: protein lysine methyltransferases. 16086857 2005
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. 15774718 2005
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR GenePaint.org: an atlas of gene expression patterns in the mouse embryo. 14681479 2004
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR NSD1 is essential for early post-implantation development and has a catalytically active SET domain. 12805229 2003
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR Structure and catalytic mechanism of the human histone methyltransferase SET7/9. 12540855 2003
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.120 GeneticVariation disease CLINVAR G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. 12130538 2002