Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.110 GeneticVariation phenotype BEFREE A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. 28821231 2017
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.110 Biomarker phenotype HPO