Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		disease 0.700 strong 1.000 4 27 2014 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 17 2 1991 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 17 1 1991 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 17 4 1991 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 12
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 11
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype 0.100 None 0 1