Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 Biomarker BEFREE As models, we analyze PNKP-related disorders, focusing on Charcot-Marie-Tooth disease and ataxia. 31110700

2019
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 GeneticVariation BEFREE Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. 28552035

2018
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 Biomarker BEFREE Ataxia-oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive neurologic disorder. 29498415

2018
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 Biomarker 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
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 GeneticVariation BEFREE PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. 27165045

2017