Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation 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