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: C0856823
Disease: Undifferentiated type acute leukemia
Undifferentiated type acute leukemia 		disease Neoplastic Process 1 0.300 None 1.000 1 2001 2001
CUI: C0862039
Disease: Precursor B-lymphoblastic lymphoma stage II
Precursor B-lymphoblastic lymphoma stage II 		disease Neoplastic Process 1 0.010 None 1.000 1 2014 2014
CUI: C1336727
Disease: Testicular Sarcoma
Testicular Sarcoma 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C4025295
Disease: Elbow hypertrichosis
Elbow hypertrichosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.110 None 1.000 1 1 2017 2017
CUI: C4546640
Disease: Hypertrichosis cubiti short stature
Hypertrichosis cubiti short stature 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0410652
Disease: Cervical spine instability
Cervical spine instability 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4280757
Disease: Fast-growing nails
Fast-growing nails 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0158621
Disease: Congenital subaortic stenosis
Congenital subaortic stenosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.360 strong 1.000 6 2014 2020
CUI: C1269700
Disease: Caliectasis
Caliectasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C1847363
Disease: Aplasia/Hypoplasia of the ribs
Aplasia/Hypoplasia of the ribs 		phenotype Finding 3 0.100 None 0
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 42 0.800 strong 1.000 22 39 2012 2019
CUI: C0795816
Disease: Chromosome 6, monosomy 6q
Chromosome 6, monosomy 6q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0948976
Disease: Leukemic infiltration of skin
Leukemic infiltration of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.020 None 1.000 2 1998 2018
CUI: C2861614
Disease: AML M5b
AML M5b 		disease Neoplastic Process 6 0.010 None 1.000 1 2004 2004
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 6 2 0.100 None 0 1
CUI: C1292775
Disease: Acute myeloid leukemia, 11q23 abnormalities
Acute myeloid leukemia, 11q23 abnormalities 		disease Neoplasms Neoplastic Process 7 0.310 None 1.000 1 2016 2016
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 7 4 0.100 None 0 1
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.360 strong 1.000 6 2014 2020
CUI: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital 		disease Disease or Syndrome; Congenital Abnormality 8 0.010 None 1.000 1 2016 2016
CUI: C2930975
Disease: Acute erythroleukemia - M6a subtype
Acute erythroleukemia - M6a subtype 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930976
Disease: Acute myeloid leukemia FAB-M6
Acute myeloid leukemia FAB-M6 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930977
Disease: Acute erythroleukemia - M6b subtype
Acute erythroleukemia - M6b subtype 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C4704767
Disease: Myelodysplastic Syndrome Acute Myeloid Leukemia
Myelodysplastic Syndrome Acute Myeloid Leukemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process 8 0.010 None 1.000 1 2000 2000
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		phenotype Musculoskeletal Diseases Finding 8 7 0.100 None 0 1