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: C4021132
Disease: Supraventricular tachycardia with an accessory connection mediated pathway
Supraventricular tachycardia with an accessory connection mediated pathway 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4023371
Disease: Proportionate tall stature
Proportionate tall stature 		phenotype Finding 1 0.100 None 0
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 28 0.780 strong 1.000 11 28 2014 2020
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2020 2020
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes 		phenotype Finding 3 0.100 None 0
CUI: C3809874
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 		disease Neoplastic Process 7 1 0.010 None 1.000 1 2018 2018
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		phenotype Finding 7 1 0.100 None 0
CUI: C2826177
Disease: Acute myeloid leukemia with mutated NPM1
Acute myeloid leukemia with mutated NPM1 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C0014068
Disease: Encephalomalacia
Encephalomalacia 		disease Nervous System Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2014 2014
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 2014 2014
CUI: C2960725
Disease: Invasive pituitary adenoma
Invasive pituitary adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C4324477
Disease: Transformation to acute myeloid leukaemia
Transformation to acute myeloid leukaemia 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2011 2011
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0
CUI: C1857479
Disease: Short columella
Short columella 		phenotype Finding 20 5 0.100 None 0
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: 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: C2938905
Disease: Central Nervous System Sensitization
Central Nervous System Sensitization 		disease Disease or Syndrome 32 1 0.010 None 1.000 1 2019 2019
CUI: C0522631
Disease: Acute myeloid leukemia, minimal differentiation
Acute myeloid leukemia, minimal differentiation 		disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2016 2016
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 1 2019 2019
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6 0.030 None 1.000 3 2014 2017
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.010 None 1.000 1 2017 2017
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		disease Neoplastic Process 37 0.010 None 1.000 1 2016 2016
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 2 2014 2019