DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 27; N. variants: 23
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 ×
Source: CURATED ×
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 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 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 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 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 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 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 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 Biomarker disease CTD_human 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 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 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 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 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999