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: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		Nervous System Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		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: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		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: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0239137
Disease: Coxa valga
Coxa valga 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		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: C2712334
Disease: Actual Aspiration
Actual Aspiration 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		0.700 0
dbSNP: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		Pathological Conditions, Signs and Symptoms 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
dbSNP: rs587782996
rs587782996 		0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587782996
rs587782996 		0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587782996
rs587782996 		0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		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: 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