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: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 GeneticVariation disease BEFREE Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. 30666337 2019
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 Biomarker disease BEFREE When ATL function is compromised, the morphology of the endoplasmic reticulum deteriorates, and these defects can result in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neuropathy. 29180453 2018
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 Biomarker disease BEFREE ATL3 is a paralogue of ATL1, a membrane curvature-generating molecule that is involved in spastic paraplegia and hereditary sensory neuropathy. 24459106 2014
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 GeneticVariation disease BEFREE Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). 22340599 2012
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 Biomarker disease GENOMICS_ENGLAND   Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). 22340599 2012
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
0.340 Biomarker disease GENOMICS_ENGLAND   Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). 22340599 2012