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: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		disease Disease or Syndrome 1 17 0.610 None 1.000 5 17 2016 2019
CUI: C0455938
Disease: Large adenoids
Large adenoids 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
Mildly elevated creatine phosphokinase 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4280687
Disease: Upper limb muscle hypertrophy
Upper limb muscle hypertrophy 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4531037
Disease: Bronchial isomerism
Bronchial isomerism 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2014 2014
CUI: C1860216
Disease: Progressive choreoathetosis
Progressive choreoathetosis 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		phenotype Finding 2 2 0.100 None 0 1
CUI: C3279904
Disease: Lactate Dehydrogenase B Deficiency
Lactate Dehydrogenase B Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
CUI: C3874374
Disease: Oncovirus infection
Oncovirus infection 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		phenotype Finding 3 2 0.100 None 0 1
CUI: C3887667
Disease: Retrocollis
Retrocollis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C4022785
Disease: Iron accumulation in substantia nigra
Iron accumulation in substantia nigra 		phenotype Finding 3 1 0.100 None 0 1
CUI: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		phenotype Finding 3 2 0.100 None 0 1
CUI: C1883694
Disease: Intraocular Medulloepithelioma
Intraocular Medulloepithelioma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		disease Eye Diseases Disease or Syndrome 4 2 0.100 None 0 1
CUI: C4048234
Disease: Undifferentiated spindle cell sarcoma
Undifferentiated spindle cell sarcoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2014 2014
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		phenotype Endocrine System Diseases Finding 5 3 0.100 None 0 1
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 3 0.100 None 0 1
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia 		disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 7 1 0.100 None 0 1