Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140 GeneticVariation disease BEFREE Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. 30666337 2019
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140 GeneticVariation disease BEFREE The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 15742100 2005
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140 GeneticVariation disease BEFREE The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. 15596607 2004
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140 Biomarker disease HPO
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140 CausalMutation disease CLINVAR