ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.030 Biomarker group 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: C0027765
Disease: nervous system disorder
nervous system disorder 		0.030 Biomarker group BEFREE The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders. 29310658 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.030 GeneticVariation group BEFREE At least 38 distinct missense mutations in the neuronal atlastin1/SPG3A GTPase are implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower limb weakness and spasticity and length-dependent axonopathy of corticospinal motor neurons. 25761634 2015