Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 GeneticVariation disease BEFREE Patient 2, homozygous for a frameshift variant (p.Ala429Thrfs*42), presented a phenotype partially consistent with MCSZ including microcephaly and developmental delay, but without seizures. 31436889 2019
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 Biomarker disease BEFREE PNKP deficiency, thus far described in 40 subjects, has been associated with a complex neurological phenotype encompassing microcephaly, seizures, developmental delay, ataxia, oculomotor apraxia and polyneuropathy. 30956058 2019
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 Biomarker disease BEFREE One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ). 28821613 2017
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 Biomarker disease BEFREE Here we consider the role for PNKP in maintaining brain function and how perturbation in its activity can account for the varied pathology of neurodegeneration or microcephaly present in MCSZ and AOA4 respectively. 27125728 2017
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 GeneticVariation disease BEFREE Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4). 27470939 2017
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 GeneticVariation disease BEFREE One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive neurodevelopmental disorder with a range of phenotypic severity, and known to be caused by mutations in the polynucleotide kinase 3' phosphatase (PNKP) gene. 27232581 2016
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 GeneticVariation disease BEFREE Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 Biomarker disease CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.470 Biomarker disease HPO