AutismKB 2.0

Annotation Detail for SPG21


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Basic Information Top
Gene Symbol:SPG21 ( ACP33,GL010,MASPARDIN,MAST )
Gene Full Name: spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Band: 15q22.31
Quick LinksEntrez ID:51324; OMIM: 608181; Uniprot ID:SPG21_HUMAN; ENSEMBL ID: ENSG00000090487; HGNC ID: 20373
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SPG21 mRNAaffects expression 17562736
D002995 Clofibric Acid Clofibric Acid affects the expression of SPG21 mRNAaffects expression 17602206
D004041 Dietary Fats Dietary Fats results in decreased expression of SPG21 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of SPG21 mRNAdecreases expression 18042831
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.4515238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Dietary Fats 2.2420435547
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6719420014 12540782 17562736 11739529 16177239 11743745 11287661 18713872 12392966 10663392 19370779 17906064 19739265 12153990 17522070 18071297 19164858 10774834 16081117 11529661 15619225 14550746 12594235 12705907 11461765 16485898 12958197 2444490 14986274 19923254 16393943 11421492 11834606 16781746 14725611 10915739 15968718 19085960 16109766 16227642 19416960
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D050171 Dyslipidemias Dietary Fats 3.7318367378
MESH:D005234 Fatty Liver Dietary Fats 3.6618296743 17967931 19551842 19004024
MESH:D005355 Fibrosis Dietary Fats 4.0818296743
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006937 Hypercholesterolemia Dietary Fats 4.0221332399
MESH:D006949 Hyperlipidemias Dietary Fats 4.0821332399
MESH:D007249 Inflammation Dietary Fats 2.6020412841
MESH:D007333 Insulin Resistance Dietary Fats 3.3418457598 11836018
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0718296743
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 11587558 19460945 19784758 16611625 16610002 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms Clofibric Acid 2.8117602206
OMIM:248900 MAST SYNDROME marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity Dietary Fats 2.3611836018 19632207 20132043 18457598 17217161 16723640 21332399 18674790 20518802
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D015430 Weight Gain Dietary Fats 4.1116723640
No data
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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