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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 17 1 1991 2018
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		disease Disease or Syndrome 1 29 0.700 strong 1.000 4 29 2014 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2019 2019
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 1
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 44 15 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 11
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0 1
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
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: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 12
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0 1
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: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0 1
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease Disease or Syndrome 13 2 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		phenotype Finding 5 2 0.100 None 0 1
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype Finding 18 8 0.100 None 0 1
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype Finding 8 6 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
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 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: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0 1