Gene: DNMT3A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. 12575993

2003
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation. 12138111

2002
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135

2006
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites. 11399089

2001
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2007
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. 20729844

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171

2006
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. 10325416

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 27991732

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014