Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia. 27185474

2016
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. 24655737

2014
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. 24075960

2013
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. 22930366

2013
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. 15834858

2005
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 12510040

2003
dbSNP: rs137852966
rs137852966
PANK2
0.700 GeneticVariation UNIPROT A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594

2001