DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0494266
Disease: Other specified immunodeficiencies
Other specified immunodeficiencies 		disease Disease or Syndrome 1 0.200 None 1.000 2 1999 2006
CUI: C0857362
Disease: Groin nodes
Groin nodes 		disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		disease Disease or Syndrome 2 4 0.010 None 1.000 1 2013 2013
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 15 0.920 strong 1.000 15 15 1999 2016
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 1 0.300 None 1.000 9 1 1999 2013
CUI: C0410192
Disease: Muscular Dystrophy, Scapulohumeral
Muscular Dystrophy, Scapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2000 2000
CUI: C1855767
Disease: Reduced natural killer cell count
Reduced natural killer cell count 		phenotype Finding 3 0.100 None 0
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 14 0.300 None 1.000 1 1 2016 2016
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 7 5 0.300 None 1.000 1 2013 2013
CUI: C4277512
Disease: Breast Cancer Lymphedema
Breast Cancer Lymphedema 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		disease Immune System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2013 2013
CUI: C0023472
Disease: Leukemia, Myeloid, Accelerated Phase
Leukemia, Myeloid, Accelerated Phase 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 2018 2018
CUI: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia 		disease Mental or Behavioral Dysfunction 15 3 0.310 None 1.000 1 2009 2009
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 2007 2007
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 23 0.010 None 1.000 1 2019 2019
CUI: C0278882
Disease: Stage III Cutaneous Melanoma AJCC v6
Stage III Cutaneous Melanoma AJCC v6 		disease Neoplastic Process 24 2 0.010 None 1.000 1 2011 2011
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma 		disease Neoplastic Process 25 1 0.010 None 1.000 1 2006 2006
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2011 2011
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.010 None 1.000 1 2009 2009
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		disease Neoplastic Process 30 4 0.010 None 1.000 1 2005 2005
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C4552513
Disease: Temporomandibular joint osteoarthritis
Temporomandibular joint osteoarthritis 		disease Disease or Syndrome 32 0.010 None 1.000 1 2019 2019