DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease BEFREE While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. 23486536 2013
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease CTD_human DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. 18029387 2008
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 15580563 2005
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease GENOMICS_ENGLAND Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF). 27734333 2016
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease CTD_human DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1. 18762900 2008
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease MGD Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171 2006
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease CTD_human Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 17893117 2008
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. 21120685 2011
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease MGD DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease BEFREE Collectively, our results show specific methylome and transcriptome defects in both ICF1-iPSCs and differentiated somatic cell lineages, providing a valuable stem cell system for further in vitro study of the molecular pathogenesis of ICF1 syndrome.GEO accession number: GSE46030. 25027325 2014
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 CausalMutation disease CLINVAR Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. 11919202 2002
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 GeneticVariation disease UNIPROT DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease CTD_human A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 15952214 2005
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 CausalMutation disease CLINVAR Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 CausalMutation disease CLINVAR DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 15580563 2005
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 CausalMutation disease CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.920 Biomarker disease CTD_human DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 15580563 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease CTD_human The relationship between gene expression (assessed by RT-PCR and quantitative real-time PCR), promoter methylation (assessed by methylation-specific PCR, bisulfite sequencing, and 5-aza-2'deoxycytidine treatment), and the DNA methyltransferase machinery (total DNMT activity and expression of DNMT1, DNMT3a, and DNMT3b proteins) were examined in 12 breast cancer cell lines. 18221536 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE The objective of the current study was to determine the role of microRNA dysregulation in the molecular mechanism governing DNMT3b overexpression in primary breast cancers that express aberrant DNA hypermethylation. 24297604 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE The DNMT3B C-->T promoter polymorphism and risk of breast cancer in a British population: a case-control study. 15217506 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE In conlcusion, the molecular mechanism governing the DNMT3b-mediated hypermethylation defect in breast cancer cell lines involves the loss of post-transcriptional regulation of DNMT3b by regulatory miRs. 22664488 2012