PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. 31436889 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 Biomarker phenotype BEFREE As models, we analyze PNKP-related disorders, focusing on Charcot-Marie-Tooth disease and ataxia. 31110700 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. 28552035 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 Biomarker phenotype BEFREE Ataxia-oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive neurologic disorder. 29498415 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. 27165045 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia. 28002403 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 Biomarker phenotype 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