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 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 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 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 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 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 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 Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia. 23968121 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated. 29804168 2018
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 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 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 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 BEFREE Here, we show that spatacsin, which is required for lysosome recycling and whose loss of function leads to hereditary spastic paraplegia 11 (SPG11), promotes clearance of gangliosides from lysosomes in mouse and human SPG11 models. 29949766 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. 28933964 2018
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 LHGDN Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 18067136 2007
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 CausalMutation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
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 GeneticVariation disease BEFREE Mutations in SPG11 cause a complicated autosomal recessive form of hereditary spastic paraplegia (HSP). 30574063 2018
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 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 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 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 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 Biomarker disease BEFREE Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive impairment, thin corpus callosum and enlarged ventricles. 30476097 2019