DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Tatton Brown Rahman syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777510
rs587777510
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.800 GeneticVariation UNIPROT Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732 2017
dbSNP: rs587777510
rs587777510
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.800 GeneticVariation UNIPROT SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772 2016
dbSNP: rs587777510
rs587777510
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.800 GeneticVariation UNIPROT Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs587777510
rs587777510
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		G 0.800 CausalMutation CLINVAR