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: 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: rs1554139723
rs1554139723 		1.000 5 88804642 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2007 2016
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: 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: rs114694170
rs114694170 		1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170 		1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C2239222
Disease: Vascular Endothelial Growth Factor Measurement
Vascular Endothelial Growth Factor Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170 		1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170 		1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2067663
rs2067663 		5 88895818 intron variant C/T snv 0.22
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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: rs17560407
rs17560407 		5 88887834 intron variant A/G snv 0.18
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1554150607
rs1554150607 		0.925 0.160 5 88823786 start lost C/G snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 4 2009 2013
dbSNP: rs1554150607
rs1554150607 		0.925 0.160 5 88823786 start lost C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2009 2013
dbSNP: rs11951031
rs11951031 		5 88842914 intron variant C/T snv 3.9E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
dbSNP: rs11951031
rs11951031 		5 88842914 intron variant C/T snv 3.9E-02
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2013 2013
dbSNP: rs11955542
rs11955542 		5 88817411 intron variant C/T snv 3.9E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013