DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs757823678 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

The DNMT3 family of mammalian de novo DNA methyltransferases.

21507354

2011

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

20651149

2010

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

1423634

1992

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

The NCBI BioSystems database.

19854944

2010

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

24614070

2014

dbSNP:

rs757823678

DNMT3A

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:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

20729844

2010

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

12575993

2003

dbSNP:

rs757823678

DNMT3A

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:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

15672446

2005

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

23849776

2013

dbSNP:

rs757823678

DNMT3A

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:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

16501171

2006

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

19344873

2009

dbSNP:

rs757823678

DNMT3A

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:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

The Polycomb group protein EZH2 directly controls DNA methylation.

16357870

2006

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Predictive motifs derived from cytosine methyltransferases.

2717398

1989

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

28475857

2017

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

DNMT3A mutations in acute myeloid leukemia.

21067377

2010

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

15739230

2005

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

15063176

2004

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

27701732

2017

dbSNP:

rs757823678

DNMT3A

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:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

16725135

2006

dbSNP:

rs757823678

DNMT3A

0.700

CausalMutation

CLINVAR

The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

12359337

2002