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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1853241
Disease: Flat face
Flat face 		0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose 		0.100 Biomarker phenotype HPO
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		0.100 Biomarker phenotype HPO
CUI: C1855767
Disease: Reduced natural killer cell count
Reduced natural killer cell count 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		0.100 Biomarker disease HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.100 GeneticVariation disease CLINVAR
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		0.100 Biomarker phenotype HPO
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 Biomarker disease BEFREE Feasibility study of community control programmes for cystic fibrosis: memorandum from a WHO/ICF(M)A meeting. 2073710 1990
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 Biomarker disease BEFREE It is based on the report of a joint WHO/ICF(M)A (International Cystic Fibrosis (Mucoviscidosis) Association) Task Force on CF which met in November 1990. 1464143 1992
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE We have investigated the distribution of DNA methylation in chromosomes and nuclei of normal individuals and ICF (Immunodeficiency, Centromeric instability and Facial abnormalities) syndrome patients, using 5-methylcytosine monoclonal antibody. 7881405 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Rearrangements in the vicinity of the centromere of chromosome 1 are over-represented in many types of human cancer and are a characteristic feature of a rare genetic disease called ICF (immunodeficiency, centromeric heterochromatin instability, and facial anomalies). 9330620 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Rearrangements in the vicinity of the centromere of chromosome 1 are over-represented in many types of human cancer and are a characteristic feature of a rare genetic disease called ICF (immunodeficiency, centromeric heterochromatin instability, and facial anomalies). 9330620 1997
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE The methylation profile of ten alpha-satellites was investigated in normal individuals and in ICF (Immunodeficiency, Centromeric instability, Facial abnormalities) patients. 9187666 1997
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: 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 Biomarker disease MGD DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141 1999
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