Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722

2016
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. 20729844

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The Polycomb group protein EZH2 directly controls DNA methylation. 16357870

2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171

2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005