SPG11 Gene

Name	spastic paraplegia 11 (autosomal recessive)
Description	The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMutations in the SPG11 gene, which encodes the protein spatacsin, represent the most frequent cause of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum. Studies have shown that SPG11 mutations are associated with a broad spectrum of neurodegenerative phenotypes, including progressive spasticity with cognitive impairment, juvenile amyotrophic lateral sclerosis, early‐onset parkinsonism, and features overlapping with Charcot–Marie–Tooth disease. These observations underscore the critical role of SPG11 in maintaining central nervous system integrity and proper neuronal function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the cellular level, spatacsin has emerged as a pivotal player in autophagic lysosome reformation. Loss of spatacsin (in concert with SPG15/spastizin) leads to defective initiation of lysosomal tubulation, depletion of free lysosomes, and accumulation of autolysosomes, indicating that SPG11 is essential for the proper turnover and recycling of autophagic vesicles. Furthermore, spatacsin participates in a coat‐like complex via its N‐terminal β‐propeller domain, interacting with the AP‐5 adaptor complex, which implicates it in membrane protein sorting and endolysosomal trafficking."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in autophagy, emerging evidence from patient‐derived neurons has revealed that SPG11 is crucial for axonal maintenance and intracellular cargo trafficking. Neurons harboring SPG11 mutations exhibit reduced neurite complexity, axonal instability with decreased levels of stabilized tubulin, and impaired anterograde vesicle transport accompanied by the accumulation of membranous bodies in axonal processes. Such defects likely underlie the corticospinal tract degeneration and variable motor neuron involvement observed clinically. Moreover, SPG11 mutations can display intrafamilial phenotypic heterogeneity, contributing to clinical presentations ranging from classical spastic paraplegia to juvenile amyotrophic lateral sclerosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nExpression and localization studies further indicate that spatacsin is ubiquitously expressed in the nervous system—with prominent expression in the cerebellum, cerebral cortex, hippocampus, and motor neurons—and colocalizes with cytoskeletal as well as vesicle-trafficking markers. These findings support a model in which SPG11 is a multifunctional protein necessary for intracellular membrane trafficking and the homeostatic maintenance of neuronal processes. Comprehensive clinical and genetic analyses have expanded the mutational spectrum of SPG11, reinforcing its central role in neurodegeneration and highlighting selective neuronal vulnerability in spastic paraplegia with thin corpus callosum."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1980"}], "href": "https://doi.org/10.1038/ng1980"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17322883"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17322883"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Antonio Orlacchio, Carla Babalini, Antonella Borreca, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awp325"}], "href": "https://doi.org/10.1093/brain/awp325"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20110243"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20110243"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Giovanni Stevanin, Hamid Azzedine, Paola Denora, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awm293"}], "href": "https://doi.org/10.1093/brain/awm293"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18079167"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18079167"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awv320"}], "href": "https://doi.org/10.1093/brain/awv320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26556829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26556829"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jaerak Chang, Seongju Lee, Craig Blackstone "}, {"type": "b", "children": [{"type": "t", "text": "Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI77598"}], "href": "https://doi.org/10.1172/JCI77598"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25365221"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25365221"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jennifer Hirst, Georg H H Borner, James Edgar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E13-03-0170"}], "href": "https://doi.org/10.1091/mbc.E13-03-0170"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23825025"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23825025"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Francesc Pérez-Brangulí, Himanshu K Mishra, Iryna Prots, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu200"}], "href": "https://doi.org/10.1093/hmg/ddu200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24794856"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24794856"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Hussein Daoud, Sirui Zhou, Anne Noreau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing reveals SPG11 mutations causing juvenile ALS."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2011.11.012"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2011.11.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22154821"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22154821"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPG11 spastic paraplegia. A new cause of juvenile parkinsonism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-009-0083-3"}], "href": "https://doi.org/10.1007/s00415-009-0083-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19224311"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19224311"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "C Paisan-Ruiz, O Dogu, A Yilmaz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000294327.66106.3d"}], "href": "https://doi.org/10.1212/01.wnl.0000294327.66106.3d"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18337587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18337587"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Reena Prity Murmu, Elodie Martin, Agnès Rastetter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Neurosci (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mcn.2011.04.004"}], "href": "https://doi.org/10.1016/j.mcn.2011.04.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21545838"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21545838"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "R Schüle, N Schlipf, M Synofzik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp.2008.167528"}], "href": "https://doi.org/10.1136/jnnp.2008.167528"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19917823"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19917823"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Paola S Denora, David Schlesinger, Carlo Casali, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20945"}], "href": "https://doi.org/10.1002/humu.20945"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19105190"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19105190"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Amir Boukhris, Giovanni Stevanin, Imed Feki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Neurol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archneur.65.3.393"}], "href": "https://doi.org/10.1001/archneur.65.3.393"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18332254"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18332254"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Marcondes C França, Clarissa L Yasuda, Fabrício R S Pereira, et al. "}, {"type": "b", "children": [{"type": "t", "text": "White and grey matter abnormalities in patients with SPG11 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp-2011-300129"}], "href": "https://doi.org/10.1136/jnnp-2011-300129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22696581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22696581"}]}]}]}
Synonyms	KIAA1840, CMT2X, ALS5
Proteins	SPTCS_HUMAN
NCBI Gene ID	80208
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SPG11 has 7,781 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 123 datasets.

Click the + buttons to view associations for SPG11 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SPG11 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SPG11 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SPG11 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SPG11 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SPG11 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SPG11 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SPG11 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SPG11 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SPG11 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SPG11 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SPG11 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SPG11 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SPG11 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SPG11 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SPG11 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SPG11 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SPG11 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SPG11 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with SPG11 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SPG11 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of SPG11 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SPG11 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SPG11 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SPG11 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SPG11 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SPG11 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SPG11 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SPG11 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SPG11 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SPG11 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SPG11 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SPG11 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SPG11 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SPG11 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving SPG11 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SPG11 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SPG11 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SPG11 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SPG11 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SPG11 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SPG11 gene from the ENCODE Histone Modification Site Profiles dataset.