ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 GeneticVariation disease BEFREE Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. 30666337 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 GeneticVariation disease BEFREE We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy. 19735987 2010
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 GeneticVariation disease BEFREE The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 15742100 2005
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 GeneticVariation disease BEFREE The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. 15596607 2004
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 CausalMutation disease CLINVAR