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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.100 GeneticVariation group GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
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: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.300 Biomarker disease GENOMICS_ENGLAND Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 23486536 2013
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 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 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 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 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 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
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.300 GeneticVariation disease UNIPROT Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. 27153398 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease 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 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: 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
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.200 Biomarker phenotype RGD Prenatal caffeine ingestion induces aberrant DNA methylation and histone acetylation of steroidogenic factor 1 and inhibits fetal adrenal steroidogenesis. 24717552 2014
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.200 Biomarker group RGD Alteration in methylation pattern of GATA-4 promoter region in vitamin A-deficient offspring's heart. 23333085 2013
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.200 Therapeutic phenotype RGD Methylation and miRNA effects of resveratrol on mammary tumors vs. normal tissue. 24447120 2014
CUI: C0033581
Disease: prostatitis
prostatitis 		0.200 Biomarker disease RGD Vinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanism. 20056826 2010
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.200 Biomarker disease RGD Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. 11844796 2002
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.200 Biomarker disease RGD Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. 11844796 2002
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		0.200 Biomarker disease RGD Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. 11844796 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET DNMT3B rs1569686 (genotype P = 0.027, allele P = 0.033) was found to be associated with early onset of schizophrenia and also with family history and early onset (genotype P = 0.009). 24859147 2014
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: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia 		0.310 Biomarker disease PSYGENET In this study, we investigated the association between DNMT3B polymorphisms and the susceptibility of early onset schizophrenia in Chinese Han population. 19576953 2009
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.450 Biomarker group HPO