KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
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: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 266 0.100 None 0 1
CUI: C4288893
Disease: Infant Acute Biphenotypic Leukemia
Infant Acute Biphenotypic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.020 None 1.000 2 2003 2012
CUI: C0279582
Disease: Childhood Burkitt Leukemia
Childhood Burkitt Leukemia 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 2005 2005
CUI: C0279591
Disease: Adult Burkitt Leukemia
Adult Burkitt Leukemia 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 2005 2005
CUI: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 2000 2000
CUI: C1292776
Disease: Therapy-related acute myeloid leukemia and myelodysplastic syndrome
Therapy-related acute myeloid leukemia and myelodysplastic syndrome 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C4288302
Disease: Refractory Adult Acute Lymphoblastic Leukemia
Refractory Adult Acute Lymphoblastic Leukemia 		disease Neoplastic Process 11 0.010 None 1.000 1 2009 2009
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 11 0.100 None 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		phenotype Finding 11 0.100 None 0
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		phenotype Finding 11 4 0.100 None 0 1
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		phenotype Anatomical Abnormality 11 7 0.100 None 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 5 0.100 None 0 1
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.300 None 1.000 1 2019 2019
CUI: C4054085
Disease: Refractory Childhood Acute Lymphoblastic Leukemia
Refractory Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 0.010 None 1.000 1 2009 2009
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.010 None 1.000 1 2016 2016
CUI: C4521228
Disease: Refractory Acute Lymphoblastic Leukemia
Refractory Acute Lymphoblastic Leukemia 		disease Neoplastic Process 14 0.010 None 1.000 1 2009 2009
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype Finding 14 24 0.100 None 0 1
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2014 2014
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2014 2014
CUI: C1710026
Disease: Sclerosing Epithelioid Fibrosarcoma
Sclerosing Epithelioid Fibrosarcoma 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2020 2020