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: 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: 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: rs1057519393
rs1057519393 		1.000 0.080 X 53197768 splice donor variant -/A 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: 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: 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: 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
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: 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
CUI: C0454644
Disease: Delayed speech and language development
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
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: 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: 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: 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: 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