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: 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: rs1561793211
rs1561793211 		1.000 5 140114561 frameshift variant -/C delins
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: 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: 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: rs1554129114
rs1554129114 		1.000 5 140114905 frameshift variant -/T delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
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: 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: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782994
rs587782994 		0.882 0.080 5 140114470 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs786204834
rs786204834 		1.000 5 140114797 missense variant A/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
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: 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
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782997
rs587782997 		0.925 0.080 5 140114964 stop gained C/G snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782996
rs587782996 		0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0