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: rs387906729
rs387906729 		1.000 0.080 X 53210500 missense variant G/T snv 9.4E-06
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780372
rs587780372 		1.000 0.080 X 53210547 missense variant G/A snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057518697
rs1057518697 		0.925 0.120 X 53210820 missense variant G/A snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1057518697
rs1057518697 		0.925 0.120 X 53210820 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs199422237
rs199422237 		1.000 0.080 X 53211545 missense variant G/A;C snv 1.6E-05
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs878853151
rs878853151 		1.000 0.200 X 53211601 frameshift variant -/A delins
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: rs199422235
rs199422235 		0.925 0.080 X 53211867 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2005 2016
dbSNP: rs199422235
rs199422235 		0.925 0.080 X 53211867 missense variant C/G snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs1569278313
rs1569278313 		1.000 0.080 X 53215951 frameshift variant G/- delins
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060499661
rs1060499661 		1.000 0.080 X 53216085 frameshift variant AG/- delins
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556852362
rs1556852362 		1.000 0.080 X 53217205 stop gained G/A snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569279367
rs1569279367 		1.000 0.080 X 53217207 missense variant C/T snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199422239
rs199422239 		1.000 0.080 X 53218398 missense variant C/T snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886037836
rs886037836 		1.000 0.080 X 53220911 missense variant C/A snv
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569285361
rs1569285361 		1.000 0.080 X 53224790 frameshift variant T/- delins
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569285562
rs1569285562 		1.000 0.080 X 53224889 start lost T/C snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2012 2015