Gene: SPG11 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). 14732628 2004
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. 16773502 2006
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease LHGDN Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 18067136 2007
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 18717728 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease LHGDN SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. 18337587 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease LHGDN Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum. 18361476 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. 18835492 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia. 18337587 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease LHGDN Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 18717728 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum. 19513778 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP). 20613862 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. 20971220 2011
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism. 21381113 2011
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. 21545838 2011
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11- and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients. 21214876 2012
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Mutations in SPG11 gene have been recently identified as a major cause of hereditary spastic paraplegia with thin corpus callosum. 23121729 2013
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. 24794856 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum. 24315199 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia. 23968121 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease MGD In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. 26284655 2015
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes. 26003865 2015
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia. 27318863 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed walking disorder in childhood. 27180005 2017