DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation 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
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. 21120685 2011
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		A 0.800 CausalMutation CLINVAR DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 15580563 2005
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 15580563 2005
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. 11919202 2002
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999
dbSNP: rs121908940
rs121908940
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C4551557
Disease:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		0.800 GeneticVariation UNIPROT Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999