rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
|
28866611 |
2018 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
|
26482601 |
2016 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in HECW2 are associated with intellectual disability and epilepsy.
|
27334371 |
2016 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
|
22965684 |
2012 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
|
21082655 |
2010 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
|
19760623 |
2009 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The control of histone lysine methylation in epigenetic regulation.
|
16919862 |
2007 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genome-wide atlas of gene expression in the adult mouse brain.
|
17151600 |
2007 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
|
17100993 |
2006 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
SET domain protein lysine methyltransferases: Structure, specificity and catalysis.
|
17013555 |
2006 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The SET-domain protein superfamily: protein lysine methyltransferases.
|
16086857 |
2005 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
|
14681479 |
2004 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
NSD1 is essential for early post-implantation development and has a catalytically active SET domain.
|
12805229 |
2003 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Structure and catalytic mechanism of the human histone methyltransferase SET7/9.
|
12540855 |
2003 |
rs797044953
|
|
Dysmorphic features
|
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 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The polycomb-group gene Ezh2 is required for early mouse development.
|
11390661 |
2001 |
rs797044953
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
|
10699187 |
2000 |