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: 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: 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: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587783000
rs587783000 		0.925 0.080 5 140114444 inframe deletion TCG/- del
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: 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: 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: 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: 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: 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: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0023380
Disease: Lethargy
Lethargy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0