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: 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: 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: rs1554129040
rs1554129040 		5 140114334 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
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: 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
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		Eye Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		Nervous System Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0018946
Disease: Hematoma, Subdural
Hematoma, Subdural 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries 0.700 0