Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. | 28386848 | 2018 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. | 28475857 | 2017 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. | 28941052 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. | 27701732 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. | 26866722 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. | 24614070 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | 23849776 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The DNMT3 family of mammalian de novo DNA methyltransferases. | 21507354 | 2011 | |||||
Muscle hypotonia
|
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 | |||||
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 | Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. | 20228804 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The NCBI BioSystems database. | 19854944 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | DNMT3A mutations in acute myeloid leukemia. | 21067377 | 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 | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. | 19344873 | 2009 | |||||
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 | Coordinate regulation of DNA methyltransferase expression during oogenesis. | 17445268 | 2007 | |||||
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 | 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 |