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: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0740279
Disease:
Cerebellar atrophy 		GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0557874
Disease:
Global developmental delay 		GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0431350
Disease:
Primary microcephaly 		GTGTCGATGGCGACCCGT 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: rs766530579
rs766530579
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		T 0.700 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: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4 		0.800 GeneticVariation UNIPROT 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: 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
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Interface between psychoanalysis and family therapy. 7165045 1982
dbSNP: rs786205207
rs786205207
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 		C 0.700 GeneticVariation CLINVAR
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: rs796052859
rs796052859
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs886037744
rs886037744
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4 		CCGGCT 0.700 CausalMutation CLINVAR