KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
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: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality
0.700 0
dbSNP: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1131692227
rs1131692227
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569258293
rs1569258293
1.000 0.080 X 53194604 frameshift variant CCAC/- delins
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs782205045
rs782205045
1.000 0.080 X 53194735 missense variant C/T snv 1.1E-05
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs782246658
rs782246658
1.000 0.080 X 53195918 stop gained G/A;T snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556836399
rs1556836399
1.000 X 53195978 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016
dbSNP: rs1556836399
rs1556836399
1.000 X 53195978 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 12 2005 2016
dbSNP: rs1556837420
rs1556837420
1.000 X 53196897 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 12 2005 2016
dbSNP: rs1556837420
rs1556837420
1.000 X 53196897 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016
dbSNP: rs1057519393
rs1057519393
1.000 0.080 X 53197768 splice donor variant -/A delins
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519393
rs1057519393
1.000 0.080 X 53197768 splice donor variant -/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1135401800
rs1135401800
1.000 0.080 X 53198524 stop gained G/A snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199422238
rs199422238
1.000 0.080 X 53198836 missense variant G/A snv 5.4E-06
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199422234
rs199422234
1.000 0.080 X 53199029 missense variant G/A snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs281860639
rs281860639
1.000 0.080 X 53199048 stop gained G/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 2011 2011
dbSNP: rs281860639
rs281860639
1.000 0.080 X 53199048 stop gained G/T snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs878853141
rs878853141
1.000 0.200 X 53199068 missense variant C/G 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 0.700 0
dbSNP: rs1057517955
rs1057517955
0.925 0.080 X 53199128 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016
dbSNP: rs1057517955
rs1057517955
0.925 0.080 X 53199128 missense variant C/T snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199422236
rs199422236
1.000 0.080 X 53199140 stop gained G/A snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556842184
rs1556842184
1.000 0.080 X 53201925 missense variant G/A snv
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0