PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
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: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		disease Disease or Syndrome 2 10 0.750 None 1.000 7 10 2010 2019
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		disease Disease or Syndrome 2 6 0.100 None 1.000 5 5 2010 2015
CUI: C4225397
Disease: ATAXIA-OCULOMOTOR APRAXIA 4
ATAXIA-OCULOMOTOR APRAXIA 4 		disease Disease or Syndrome 1 5 0.710 None 1.000 3 5 2015 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1 2010 2019
CUI: C0699734
Disease: Progressive chorea
Progressive chorea 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 1 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0 1
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype Finding 49 11 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0
CUI: C1844906
Disease: Broad finger
Broad finger 		phenotype Finding 17 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype Finding 19 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype Finding 39 2 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		phenotype Finding 15 0.100 None 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		phenotype Finding 14 0.100 None 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		phenotype Anatomical Abnormality 17 0.100 None 0