Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2007
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149

2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011

1999
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884

2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722

2016
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811

2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014