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: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2014 2014
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 11 0.010 None 1.000 1 2014 2014
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 0
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 0
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.100 None 0 1
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 0.100 None 0 1
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.100 None 0 1
CUI: C0241775
Disease: Organic aciduria
Organic aciduria 		phenotype Finding 12 1 0.100 None 0 1
CUI: C1820737
Disease: Temperature instability
Temperature instability 		phenotype Finding 12 8 0.100 None 0 1
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 13 8 0.320 None 1.000 2 2017 2019
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		phenotype Finding 13 4 0.100 None 0 1
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease 		disease Digestive System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 0.100 None 0 1
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 1
CUI: C4531083
Disease: Mucinous gastric carcinoma
Mucinous gastric carcinoma 		disease Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.300 None 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.100 None 0 1
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype Finding 17 4 0.100 None 0 1
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 1.000 1 2017 2017
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2016 2016
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 0.300 None 0