DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Disease: Immunodeficiency syndrome, variable ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 23486536 2013
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 17893117 2008
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. 16543361 2006
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 Biomarker disease MGD Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171 2006
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 11741835 2001
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 11102980 2000
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 Biomarker disease MGD DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.300 CausalMutation disease CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011 1999