PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606957
rs267606957
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation BEFREE Three of the four mutations currently associated with MCSZ greatly reduce or ablate DNA kinase activity of recombinant PNKP at 30°C (L176F, T424Gfs48X and exon15Δfs4X), but only one of these mutations reduces DNA phosphatase activity under the same conditions (L176F). 22508754 2012
dbSNP: rs267606957
rs267606957
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation UNIPROT Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016
dbSNP: rs267606957
rs267606957
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation UNIPROT Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs267606956
rs267606956
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.800 GeneticVariation UNIPROT Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs267606956
rs267606956
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.800 GeneticVariation UNIPROT Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4 		0.800 GeneticVariation UNIPROT Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773 2015
dbSNP: rs376854895
rs376854895
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.700 GeneticVariation UNIPROT Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016
dbSNP: rs376854895
rs376854895
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		0.700 GeneticVariation UNIPROT Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs267606956
rs267606956
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0008073
Disease:
Developmental Disabilities 		0.010 GeneticVariation BEFREE A mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ. 28453785 2017
dbSNP: rs267606957
rs267606957
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.810 CausalMutation CLINVAR
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1247055716
rs1247055716
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs372148913
rs372148913
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs539286945
rs539286945
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784366
rs587784366
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784366
rs587784366
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C1859598
Disease:
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs752902474
rs752902474
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		A 0.700 CausalMutation CLINVAR Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs752902474
rs752902474
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. 24965255 2014
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. 23224214 2013
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. 10446192 1999
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. 27165045 2017
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773 2015