Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder
0.010 GeneticVariation disease BEFREE Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS by sequencing the reference sample NA12878 and the genome of an individual with ataxia-pancytopenia syndrome and severe immune dysregulation. 31015479 2019