AutismKB 2.0

Annotation Detail for SPG11


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Basic Information Top
Gene Symbol:SPG11 ( DKFZp762B1512,FLJ21439,KIAA1840 )
Gene Full Name: spastic paraplegia 11 (autosomal recessive)
Band: 15q21.1
Quick LinksEntrez ID:80208; OMIM: 610844; Uniprot ID:SPTCS_HUMAN; ENSEMBL ID: ENSG00000104133; HGNC ID: 11226
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1792Spastic paraplegia, Hereditary
2001Mental retardation
No data
No data
Desease Name
Spastic paraplegia-11
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SPG11 mRNAaffects expression 17562736
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 5.2610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8610977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6919416960 17562736 15968718 17906064 18071297 16485898 14986274 19739265 17522070 2444490 11461765 19923254 12958197 10663392 16227642 14550746 19085960 11743745 16109766 12705907 12392966 12153990 19420014 19164858 16081117 11739529 11834606 16393943 11421492 11529661 16177239 11287661 10774834 18713872 10915739 12594235 16781746 14725611 15619225 19370779 12540782
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.5119426721
MESH:D005756 Gastritis Acetaminophen 5.0916983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1516870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4712587719 15629191
MESH:D008107 Liver Diseases Acetaminophen 1.7212969438 19784758 16611625 11587558 12587719 19014921 16610002 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.8117185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.4719513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3618514411
MESH:D010146 Pain Acetaminophen 2.8716870215
MESH:C537483 Spastic paraplegia 11, autosomal recessive marker/mechanism
MESH:D014581 Urticaria Acetaminophen 3.6710982225
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018