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: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.500 None 1.000 13 3 2016 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.400 None 1.000 13 2 2016 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.380 None 1.000 9 2005 2018
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: 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: 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: 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: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
disease Nervous System Diseases Disease or Syndrome 9 0.300 None 0
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.300 None 0
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 0
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
disease Nervous System Diseases Disease or Syndrome 21 8 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: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 19 5 0.300 None 0
Autosomal Recessive Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
Autosomal Dominant Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
Adult-Onset Idiopathic Torsion Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 26 3 0.300 None 0
Adult-Onset Idiopathic Focal Dystonias
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 21 1999 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 16 2004 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 16 1999 2020