Gene: ATL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia. 19085270 2008
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. 28736820 2017
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 23079343 2013
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798 2015
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. 15477516 2004
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. 16401858 2006
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. 16401858 2006
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. 15477516 2004
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. 26888483 2016
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease 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
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia. 17380240 2007
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 23233086 2013
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213 2006
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 19423133 2009
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. 16009769 2005
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Depletion of or mutations in ATL cause an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characterized by axon shortening in corticospinal motor neurons and progressive spasticity of the lower limbs. 28240257 2017
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN Hereditary spastic paraplegia 3A associated with axonal neuropathy. 17502470 2007
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. 19494379 2009
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. 12112092 2002
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 Biomarker disease BEFREE Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283 2010
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-related GTPase atlastin-1. 21194679 2011
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE We conclude that mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. 17502470 2007
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia. 16533974 2006
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. 25454648 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Deletion of ATL results in long unbranched ER tubules in cells, and mutation of human ATL1 is linked to hereditary spastic paraplegia. 31239341 2019