Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141

1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. 15063176

2004
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. 12575993

2003
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents. 12359337

2002
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The Polycomb group protein EZH2 directly controls DNA methylation. 16357870

2006
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. 10325416

1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135

2006