Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1
0.010 GeneticVariation disease BEFREE Here, we describe the first case of hereditary spastic paraplegia (HSP) caused by a novel de novo (p.L337P) variant in ATP1A1. 31705535 2020