PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0 1
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 9 5 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 12
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		phenotype Finding 6 2 0.100 None 0 1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 1
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0 1
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0 1
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		phenotype Nervous System Diseases Finding 14 7 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 11
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 11
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0 1
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 44 15 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0 1
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		disease Anatomical Abnormality 23 2 0.100 None 0 1
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype Finding 32 6 0.100 None 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		phenotype Finding 5 1 0.100 None 0 1
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0 1
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 19 13 0.100 None 0 1
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 0 1
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1