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: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0003537
Disease: Aphasia
Aphasia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0026884
Disease: Mutism
Mutism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
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
dbSNP: rs1554102556
rs1554102556 		1.000 5 88731903 splice acceptor variant T/G snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1554110298
rs1554110298 		1.000 5 88749081 frameshift variant CCTGCACCAGACG/GTGGAGAC delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1561697465
rs1561697465 		1.000 5 88731758 frameshift variant -/T delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
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: rs397514655
rs397514655 		1.000 5 88804743 missense variant A/G;T snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs397514656
rs397514656 		1.000 5 88804776 missense variant C/G snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs545185248
rs545185248 		1.000 5 88823787 start lost A/G;T snv 4.0E-06
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: rs587783749
rs587783749 		1.000 5 88730212 frameshift variant A/- delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs730882192
rs730882192 		1.000 5 88751988 frameshift variant T/- delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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: 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: 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