DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 41; N. variants: 41
Disease: Tatton Brown Rahman syndrome ×
Source: CURATED ×
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 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 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 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 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 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 Biomarker disease CTD_human