DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Tatton Brown Rahman syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 31685998 2020
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE Tatton-Brown-Rahman syndrome (TBRS) is a childhood overgrowth disorder that is defined by germline mutations in DNMT3A. 31485078 2019
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE We also discuss the associations between mutations in DNMT3A found in TBRS, AML, and medulloblastoma. 31066180 2019
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous <i>DNMT3A</i> variants. 29900417 2018
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. 28449304 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. 27991732 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS. 28941052 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease UNIPROT Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations. 27701732 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GermlineCausalMutation disease ORPHANET Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations. 27701732 2017
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease BEFREE Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. 26866722 2016
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease UNIPROT SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772 2016
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GermlineCausalMutation disease ORPHANET Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 GeneticVariation disease UNIPROT Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 CausalMutation disease CLINVAR
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.780 Biomarker disease CTD_human