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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 GeneticVariation group BEFREE Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome. 12900541 2002
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 GeneticVariation group BEFREE Mutation in the DNMT3B DNA methyltransferase gene is a common cause of ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) immunodeficiency syndrome and leads to hypomethylation of satellites 2 and 3 in pericentric heterochromatin. 11702227 2001
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 Biomarker group BEFREE Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome. 11063717 2000
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 GeneticVariation group BEFREE Lsh/HELLS is critical for normal development and mutations of Lsh in human cause the ICF (Immune deficiency, Centromeric instability, Facial anomalies) syndrome, a severe immune disorder with multiple organ deficiencies. 30861354 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 Biomarker group CTD_human Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. 17908720 2007
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 GeneticVariation group BEFREE The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.450 Biomarker group HPO
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 Biomarker group CTD_human DNMT3b overexpression contributes to a hypermethylator phenotype in human breast cancer cell lines. 18221536 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 AlteredExpression group LHGDN DNMT3b overexpression contributes to a hypermethylator phenotype in human breast cancer cell lines. 18221536 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 Biomarker group CTD_human Clinicopathologic significance of DNA methyltransferase 1, 3a, and 3b overexpression in Tunisian breast cancers. 22520950 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 AlteredExpression group BEFREE We suggest that these altered CTCF and DNMT3b expression patterns represent (a) critical events responsible for the epigenetic inactivation of BRCA1 and (b) a diagnostic signature for epigenetic inactivation of other tumour suppressor genes in sporadic breast tumours. 17071074 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 AlteredExpression group BEFREE Although we failed to identify underexpression of specific target genes associated with DNMT increasing expression, the frequent overexpression of DNMT3B in this breast tumor series points to DNMT3B as a potential new therapeutic target in breast cancer. 14555514 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 Biomarker group BEFREE Our results indicated that DNMT3A and DNMT3B promoters were demethylated in breast tumors as compared to control tissues. 29574992 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.340 AlteredExpression group LHGDN Although we failed to identify underexpression of specific target genes associated with DNMT increasing expression, the frequent overexpression of DNMT3B in this breast tumor series points to DNMT3B as a potential new therapeutic target in breast cancer. 14555514 2003
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 Biomarker group CTD_human Polymorphisms in the DNA methyltransferase 3b gene and prostate cancer risk. 16012746 2005
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 GeneticVariation group LHGDN Polymorphisms in the DNA methyltransferase 3b gene and prostate cancer risk. 16012746 2005
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.310 AlteredExpression group LHGDN The expression and clinical significance of DNA methyltransferase proteins in human gastric cancer. 18253830 2008
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.310 Biomarker group CTD_human DNA methyltransferase 1 as a predictive biomarker and potential therapeutic target for chemotherapy in gastric cancer. 21458988 2011
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
0.310 Biomarker group PSYGENET Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders. 21592522 2011
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
0.310 AlteredExpression group BEFREE Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders. 21592522 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.300 Biomarker group CTD_human High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively. 21458988 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. 17908720 2007
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.210 Biomarker group RGD Immunoblot assay showed that the levels of DNMT1, DNMT3a, and DNMT3b proteins in the hepatoma were 5-, 10-, and 4-fold higher, respectively, than in the liver. 11844796 2002
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.210 AlteredExpression group BEFREE DNMT3b may play an important role in regulation of FHIT expression in hepatoma SMMC-7721 cells, but not through methylation of the FHIT promoter. 19502167 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.200 Biomarker group RGD Gestational hypoxia induces sex-differential methylation of Crhr1 linked to anxiety-like behavior. 23529784 2013