Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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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 |
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T | 0.700 | CausalMutation | CLINVAR | DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. | 10555141 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Coordinate regulation of DNA methyltransferase expression during oogenesis. | 17445268 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. | 10647011 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | The NCBI BioSystems database. | 19854944 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. | 28386848 | 2018 |
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T | 0.700 | CausalMutation | CLINVAR | Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. | 20651149 | 2010 |
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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 |
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T | 0.700 | CausalMutation | CLINVAR | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. | 19344873 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | DNMT3A mutations in acute myeloid leukemia. | 21067377 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Predictive motifs derived from cytosine methyltransferases. | 2717398 | 1989 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. | 28475857 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. | 15063176 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. | 28941052 | 2017 |
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T | 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 |
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T | 0.700 | CausalMutation | CLINVAR | The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. | 12575993 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. | 27701732 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | Cloning, expression and chromosome locations of the human DNMT3 gene family. | 10433969 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. | 20729844 | 2010 |
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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 |
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T | 0.700 | CausalMutation | CLINVAR | Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. | 26866722 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. | 15739230 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. | 16725135 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. | 15672446 | 2005 |