PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
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: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.800 1.000 2 2014 2014
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.800 1.000 2 2014 2014
dbSNP: rs587783001
rs587783001 		0.882 0.080 5 140114777 missense variant G/C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.800 1.000 2 2014 2014
dbSNP: rs1554128999
rs1554128999 		5 140114186 frameshift variant GACCG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129039
rs1554129039 		1.000 5 140114334 frameshift variant A/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129039
rs1554129039 		1.000 5 140114334 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129039
rs1554129039 		1.000 5 140114334 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 17 1991 2018
dbSNP: rs1554129113
rs1554129113 		5 140114873 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129113
rs1554129113 		5 140114873 missense variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs793888527
rs793888527 		1.000 5 140114744 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1561793219
rs1561793219 		1.000 5 140114583 frameshift variant -/AGGACGAGCCGCGC delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 3 2014 2018
dbSNP: rs1561793268
rs1561793268 		1.000 5 140114672 frameshift variant -/GCCG delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 2 2014 2014
dbSNP: rs587782998
rs587782998 		0.882 0.080 5 140114651 missense variant T/A snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 2 2014 2014
dbSNP: rs587782999
rs587782999 		0.882 0.080 5 140114446 missense variant G/A;C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 2 2014 2014
dbSNP: rs786204835
rs786204835 		1.000 5 140114871 inframe deletion TTC/- delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 2 2014 2015
dbSNP: rs1554129091
rs1554129091 		1.000 5 140114668 stop gained C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 1 2014 2014
dbSNP: rs1561792945
rs1561792945 		1.000 5 140114191 stop gained C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 1 2014 2014
dbSNP: rs1561793115
rs1561793115 		1.000 5 140114356 stop gained C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 1 2014 2014
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 1.000 1 2014 2014
dbSNP: rs1554129008
rs1554129008 		1.000 5 140114231 frameshift variant C/- del
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs1554129040
rs1554129040 		5 140114334 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554129045
rs1554129045 		1.000 5 140114386 stop gained C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs1554129069
rs1554129069 		1.000 5 140114543 frameshift variant -/GC delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs1554129096
rs1554129096 		1.000 5 140114677 missense variant C/A;T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs1554129100
rs1554129100 		1.000 5 140114692 missense variant C/G snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0