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 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 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 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
dbSNP: rs267606957
rs267606957
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		A 0.810 CausalMutation CLINVAR
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: 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 		T 0.800 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: 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: 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: 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: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TGTTGTCGATGGCGACCC 0.700 CausalMutation CLINVAR Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773 2015
dbSNP: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TGTTGTCGATGGCGACCC 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
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
dbSNP: rs786205207
rs786205207
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4 		C 0.700 CausalMutation CLINVAR Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773 2015
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: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TGTTGTCGATGGCGACCC 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 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. 23224214 2013
dbSNP: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TGTTGTCGATGGCGACCC 0.700 CausalMutation CLINVAR Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. 22508754 2012
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: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TGTTGTCGATGGCGACCC 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: 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: 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 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