MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4521516
rs4521516 		5 88804134 intron variant G/C snv 0.15
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 1 2011 2011
dbSNP: rs606393
rs606393 		5 88762346 intron variant T/C snv 0.48
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs62380364
rs62380364 		5 88811520 intron variant C/A snv 0.36
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs700585
rs700585 		5 88856300 intron variant C/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs9986272
rs9986272 		5 88824509 intron variant C/T snv 4.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1554139771
rs1554139771 		5 88804732 stop gained CA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771 		5 88804732 stop gained CA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771 		5 88804732 stop gained CA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2007 2016
dbSNP: rs796052733
rs796052733 		1.000 0.040 5 88731773 stop gained G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs267607233
rs267607233 		1.000 5 88731856 stop gained G/C snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs587783747
rs587783747 		1.000 5 88751881 stop gained G/A snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1554139870
rs1554139870 		1.000 5 88804798 missense variant T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2007 2016
dbSNP: rs397514655
rs397514655 		1.000 5 88804743 missense variant A/G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs397514655
rs397514655 		1.000 5 88804743 missense variant A/G;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1266613767
rs1266613767 		1.000 5 88751929 missense variant C/T snv
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2018 2018
dbSNP: rs768570497
rs768570497 		1.000 0.080 5 88722779 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768570497
rs768570497 		1.000 0.080 5 88722779 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs796052728
rs796052728 		1.000 0.080 5 88823746 missense variant G/A snv
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs796052728
rs796052728 		1.000 0.080 5 88823746 missense variant G/A snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs797045053
rs797045053 		1.000 5 88804788 missense variant T/C snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2016 2016
dbSNP: rs1202957297
rs1202957297 		1.000 5 88823745 missense variant C/T snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0