KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 10; N. variants: 9
Source: CURATED ×
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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 133 505 0.410 strong 1.000 1 1 2019 2019
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 55 6 0.320 None 1.000 1 2002 2011
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 18 0.310 None 1.000 1 2002 2009
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.310 None 1.000 1 2017 2019
CUI: C4025874
Disease: Abnormality of skull size
Abnormality of skull size
phenotype Anatomical Abnormality 1 0.300 strong 1.000 1 2019 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.300 None 1.000 1 2019 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.300 strong 1.000 1 2019 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.300 strong 1.000 1 2019 2019
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic
disease Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2009 2009
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
disease Disease or Syndrome 9 6 0.300 strong 1.000 1 2019 2019