rs781139634, DNMT3A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. 20729844 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
Muscle hypotonia
CUI: C0026827
Disease: 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
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268 2007
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268 2007
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930 2007
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The Polycomb group protein EZH2 directly controls DNA methylation. 16357870 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR The Polycomb group protein EZH2 directly controls DNA methylation. 16357870 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. 15672446 2005
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230 2005
Muscle hypotonia
CUI: C0026827
Disease: 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
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230 2005