MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
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: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		disease Disease or Syndrome 1 15 0.600 None 1.000 7 15 2009 2016
CUI: C1275836
Disease: D - transposition of the great vessels
D - transposition of the great vessels 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 0
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 4 0.010 None 1.000 1 2011 2011
CUI: C1969656
Disease: MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder) 		disease Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C0005899
Disease: Body Rocking
Body Rocking 		phenotype Mental Disorders Individual Behavior 3 0.300 None 1.000 1 2010 2010
CUI: C1863516
Disease: Microcephaly with Simplified Gyral Pattern
Microcephaly with Simplified Gyral Pattern 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		disease Otorhinolaryngologic Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2018 2018
CUI: C0018672
Disease: Head Banging
Head Banging 		phenotype Mental Disorders Mental or Behavioral Dysfunction 7 3 0.300 None 1.000 1 2010 2010
CUI: C4048548
Disease: Anti-Mullerian Hormone Measurement
Anti-Mullerian Hormone Measurement 		phenotype Laboratory Procedure 7 9 0.100 None 1.000 1 1 2019 2019
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		disease Anatomical Abnormality 8 1 0.100 None 0
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 9 0.010 None 1.000 1 2016 2016
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 10 93 0.010 None 1.000 1 2013 2013
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 47 0.010 None 1.000 1 2010 2010
CUI: C1513269
Disease: Microcysts
Microcysts 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality 12 2 0.010 None 1.000 1 2019 2019
CUI: C2239222
Disease: Vascular Endothelial Growth Factor Measurement
Vascular Endothelial Growth Factor Measurement 		phenotype Laboratory Procedure 12 46 0.100 None 1.000 1 1 2016 2016
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 17 0.010 None 1.000 1 2016 2016
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 22 22 0.010 None 1.000 1 2011 2011
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		phenotype Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 2010 2010
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2016 2016
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2016 2016
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2009 2009
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease Nervous System Diseases Disease or Syndrome 39 9 0.010 None 1.000 1 2010 2010