ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Spastic paraplegia 10, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.030 GeneticVariation disease BEFREE Overall, the comparison of the clinical data for all SPG3A-HSP families reported to date failed to reveal any genotype/phenotype correlation as demonstrated for other forms of AD-HSP. 15517445 2004
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.030 GeneticVariation disease BEFREE To determine the relative frequency, phenotype, and mutation spectrum of SPG3A in patients with pure autosomal dominant spastic paraplegia and onset before age 20 years. 15596607 2004
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.030 Biomarker disease BEFREE These results suggest that FSP1 is not involved in late onset ADSP, at least in the six families studied. 7719135 1995