DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: Immunodeficiency syndrome, variable ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 23486536 2013
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 17893117 2008
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. 16543361 2006
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 11741835 2001
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
dbSNP: rs121908941
rs121908941
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
CUI: C0398788
Disease:
Immunodeficiency syndrome, variable 		G 0.700 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999