Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. | 1423634 | 1992 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Predictive motifs derived from cytosine methyltransferases. | 2717398 | 1989 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. | 10325416 | 1999 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Cloning, expression and chromosome locations of the human DNMT3 gene family. | 10433969 | 1999 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. | 10555141 | 1999 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. | 10647011 | 1999 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | 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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents. | 12359337 | 2002 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. | 12575993 | 2003 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. | 15063176 | 2004 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. | 15672446 | 2005 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. | 15739230 | 2005 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The Polycomb group protein EZH2 directly controls DNA methylation. | 16357870 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. | 16501171 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. | 16725135 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Coordinate regulation of DNA methyltransferase expression during oogenesis. | 17445268 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. | 17878930 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. | 19344873 | 2009 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The NCBI BioSystems database. | 19854944 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. | 20228804 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. | 20651149 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. | 20729844 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DNMT3A mutations in acute myeloid leukemia. | 21067377 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The DNMT3 family of mammalian de novo DNA methyltransferases. | 21507354 | 2011 |