MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
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: rs148744894
rs148744894 		1.000 0.080 X 154030832 synonymous variant G/A snv 2.5E-04 1.2E-04
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1734791
rs1734791 		1.000 0.080 X 154065469 intron variant A/T snv 0.22
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1734792
rs1734792 		1.000 0.080 X 154075609 intron variant C/A snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs17435
rs17435 		0.851 0.200 X 154046529 intron variant T/A;C snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs17435
rs17435 		0.851 0.200 X 154046529 intron variant T/A;C snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17435
rs17435 		0.851 0.200 X 154046529 intron variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs17435
rs17435 		0.851 0.200 X 154046529 intron variant T/A;C snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs179363901
rs179363901 		0.882 0.120 X 154097661 missense variant G/A snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs179363901
rs179363901 		0.882 0.120 X 154097661 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2009 2009
dbSNP: rs179363901
rs179363901 		0.882 0.120 X 154097661 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs2239464
rs2239464 		0.925 0.120 X 154082978 intron variant G/A snv 0.34
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs267608383
rs267608383 		1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs267608383
rs267608383 		1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs267608402
rs267608402 		1.000 0.200 X 154030650 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs267608402
rs267608402 		1.000 0.200 X 154030650 missense variant G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs267608475
rs267608475 		0.925 0.120 X 154031415 stop gained A/G;T snv
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs267608563
rs267608563 		0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608563
rs267608563 		0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608572
rs267608572 		1.000 0.080 X 154030690 missense variant C/T snv 3.5E-04 2.2E-04
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267608595
rs267608595 		1.000 0.080 X 154030662 frameshift variant GTGGGGG/-;G delins 6.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267608597
rs267608597 		0.882 0.080 X 154030665 stop gained GG/TA mnv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs267608597
rs267608597 		0.882 0.080 X 154030665 stop gained GG/TA mnv
CUI: C0948392
Disease: Borderline mental impairment
Borderline mental impairment 		0.010 1.000 1 2007 2007
dbSNP: rs267608622
rs267608622 		1.000 0.200 X 154030540 missense variant G/A snv 1.6E-05
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs28934904
rs28934904 		0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2005 2005
dbSNP: rs28934904
rs28934904 		0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005