Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
0.010 GeneticVariation group BEFREE Additional screening of NAXE identified three novel homozygous missense variants (p.Lys245Gln, p.Asp218Asn, p.Ile214Val) in three patients with overlapping phenotype (fluctuating disease course, respiratory insufficiency, movement disorder). 31745726 2020