KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 205; N. variants: 64
Source: INFERRED ×
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: 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 3 0.800 strong 1.000 3 39 2012 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 1259 0.140 None 1.000 0 2018 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.120 None 1.000 0 3 2015 2019
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 76 0.120 None 1.000 0 1 2014 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 178 0.110 None 1.000 0 2016 2016
CUI: C4025295
Disease: Elbow hypertrichosis
Elbow hypertrichosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.110 None 1.000 0 1 2017 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 102 0.100 None 1.000 22 1 1989 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 0.100 None 1.000 22 17 1989 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 1.000 22 5 1989 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 954 0.100 None 1.000 22 7 1989 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 196 0.100 None 1.000 22 3 1989 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 3 0.100 None 1.000 1 2 2017 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 0.100 None 1.000 1 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 389 0.100 None 1.000 1 1 2016 2016
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 49 0.100 None 1.000 1 1 2016 2016
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 116 0.100 None 0 1
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 0 4
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 64 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 0.100 None 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 0.100 None 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype Finding 20 0.100 None 0