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: 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: rs1554129118
rs1554129118 		1.000 5 140114915 missense variant G/C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
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: rs1561793336
rs1561793336 		1.000 5 140114786 missense variant T/C snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs1561793344
rs1561793344 		1.000 5 140114800 frameshift variant GACGACT/- del
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782991
rs587782991 		0.882 0.080 5 140114991 inframe deletion TCT/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782992
rs587782992 		0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782993
rs587782993 		0.882 0.080 5 140114737 stop gained C/T 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: 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