DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354 2011
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. 12575993 2003
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732 2017
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634 1992
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171 2006
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804 2010
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents. 12359337 2002
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884 2017
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398 1989
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. 15063176 2004
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722 2016
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
dbSNP: rs147001633
rs147001633
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969 1999