DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
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: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 196 7 0.300 None 1.000 1 2015 2015
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2014 2014
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		disease Digestive System Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2010 2010
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2012 2012
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 53 3 0.300 None 1.000 1 2010 2010
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2014 2014
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2014 2014
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2015 2015
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.300 None 1.000 1 2016 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2014 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.300 None 1.000 1 2019 2019
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2014 2014
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2010 2010
CUI: C0376407
Disease: Granulomatous Slack Skin
Granulomatous Slack Skin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2015 2015
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.300 None 1.000 1 2015 2015
CUI: C3496069
Disease: cocaine use
cocaine use 		disease Mental or Behavioral Dysfunction 67 8 0.300 None 1.000 1 2010 2010
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 0
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 0
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.280 None 1.000 9 2007 2019
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.220 None 1.000 3 2002 2020
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.200 None 0.947 19 2 2009 2019
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 2013 2013
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 1 2013 2013
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 2002 2002
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.200 None 1.000 1 2002 2002