KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
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: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 7 0.100 None 0 1
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 0.300 None 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C0026961
Disease: Mydriasis
Mydriasis 		phenotype Eye Diseases Sign or Symptom 25 2 0.100 None 0 1
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.300 None 0
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.300 None 1.000 1 2017 2017
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		phenotype Finding 28 2 0.100 None 0 1
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 29 5 0.100 None 0 1
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0 1
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 32 4 0.100 None 0 1
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 32 2 0.100 None 0 1
CUI: C0205695
Disease: Carcinoid, Goblet Cell
Carcinoid, Goblet Cell 		disease Neoplasms Neoplastic Process 34 0.010 None 1.000 1 2018 2018
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 37 253 0.100 None 1.000 24 2010 2019
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.100 None 0 1
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0 1
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0 1
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.300 None 1.000 1 2017 2017
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0 1
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 44 15 0.100 None 0 1
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None < 0.001 1 2006 2006
CUI: C0233844
Disease: Clumsiness
Clumsiness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0 1
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0 1
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 2019 2019
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0 1