Gene: DNMT3A ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation. 12138111 2002
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634 1992
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 27991732 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811 2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969 1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268 2007
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930 2007
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230 2005
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804 2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. 20729844 2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149 2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. 15672446 2005
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135 2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype 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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848 2018
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732 2017