ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Hereditary spastic paraplegia 3A associated with axonal neuropathy. 17502470 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 Biomarker group BEFREE No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders. 15786464 2005