AutismKB 2.0

Annotation Detail for SPG20


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Basic Information Top
Gene Symbol:SPG20 ( KIAA0610,SPARTIN,TAHCCP1 )
Gene Full Name: spastic paraplegia 20 (Troyer syndrome)
Band: 13q13.3
Quick LinksEntrez ID:23111; OMIM: 607111; Uniprot ID:SPG20_HUMAN; ENSEMBL ID: ENSG00000133104; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SPG20 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of SPG20 mRNAaffects expression 17562736
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SPG20 mRNAaffects cotreatment|affects expression 17602206
D016572 Cyclosporine Cyclosporine results in increased expression of SPG20 mRNAincreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SPG20 mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SPG20 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SPG20 mRNAdecreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPG20 mRNAaffects cotreatment|increases expression 17942748
D008727 Methotrexate SPG20 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
D013629 Tamoxifen Tamoxifen affects the expression of SPG20 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPG20 mRNAaffects cotreatment|increases expression 17942748
C025643 vinclozolin vinclozolin affects the expression of SPG20 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 9.3912039119
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.3914514962 11752688 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.983712494
MESH:D000236 Adenoma Diethylnitrosamine 6.9810737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.8617620307 17162532 19061943 18056438 16434500 19052882
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1317286800
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.281440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9917474063
MESH:D001943 Breast Neoplasms Methotrexate 1.9916978400
MESH:D001943 Breast Neoplasms Tamoxifen 1.9919487384 19244106 21152245 18984771 18815881 18821012 17893378 18997820 17049068 20135344 19410462 20065188 19189210 20005174 17440819 16273361 19189212 17242785 18629630 19059307 19142967 19103187 15668708 20859285 20544844 19066611 16202921 16818667 15565566 11161223 16873071 18425577 19011961 19155303 19200415 18351453 20390343 19288272 17261762 19289846 18855134 21138602 19115204 19221464 19084267
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.757296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.753084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.7518393292 16830150 19171122 20101231 17138121 16807293 18210153 20524982 3084413 11831363 17173139 18978308 16935385 19919837 17978847 19107877 20214788 20512989 19052882 19418558 16779866 20432363 19701751 18494052 17761372 3581430 20727157 19335982 19822196 19394651 16569478 16502159 19539802 20084675 16288022 17055752 21159647 18971187 18506893 17162532 20007298 19519916 16328049 17428255 10672840 19383236 16681979 16698587 18691550 18788625 20935162 16540662 10737359 19208518 18665156 18785209 20514400 18056438 16878318
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7516924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.837505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.8312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.832727394 17174075 21159647 7505956
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.8419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.8416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.1319486331 9022650
MESH:D002779 Cholestasis Cyclosporine 14.1319486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.1317333356 17681005 15861022 11677210 17110522 16919318 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1612621046 8697196 15668235 16354765 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Methotrexate 2.809562676 12039119
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.8020055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D003550 Cystic Fibrosis Methotrexate 4.4019747007
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.012524372 12868966 11906362 8970840 14531868 8156756 11298694 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.673621924 2952479
MESH:D003882 Dermatomyositis Methotrexate 5.3220191521
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3420387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3417107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.329022650 8291058 18692083 9328219 11289319 16192314 18289764 7440962 9653073 6679447 18648102 6482804 1440618
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3212153990 11743745 12594235 17906064 16393943 16109766 10774834 12705907 16227642 16081117 19420014 10663392 12958197 17522070 19085960 18713872 16177239 11421492 17562736 11461765 12392966 11287661 19370779 19416960 14986274 14725611 11834606 16781746 2444490 10915739 19923254 15968718 16485898 11529661 15619225 19739265 14550746 11739529 19164858 18071297 12540782
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.3219107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1516202921 19155303 17893378 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.143581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Cyclosporine 20.2419224547
MESH:D005234 Fatty Liver Diethylnitrosamine 20.2420387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.2415345470
MESH:D005234 Fatty Liver Tamoxifen 20.2419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005355 Fibrosis Cyclosporine 9.2112639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.2120067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006086 Graft vs Host Disease Methotrexate 5.3616518429
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.716705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1115340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 16354765 18606429 16959395 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Cyclosporine 5.1410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1418670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.0317937319
MESH:D007248 Infertility, Male vinclozolin 7.0316467254
MESH:D007249 Inflammation Diethylnitrosamine 8.7518785209
MESH:D007249 Inflammation Tamoxifen 8.7519457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.7512200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.288074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 6.1012587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.1010903974 8314463 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.236582329
MESH:D007680 Kidney Neoplasms Cyclosporine 13.2312371664
MESH:D007680 Kidney Neoplasms Tamoxifen 13.2318625569
MESH:D007805 Language Development Disorders Methotrexate 5.299562676
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008064 Lipidoses Tamoxifen 3.2715342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.2319638242 20032147 18407596 18665156 18522880
MESH:D008103 Liver Cirrhosis Methotrexate 7.2314986274
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.309327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3318564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3312878042
MESH:D008107 Liver Diseases Acetaminophen 4.0319784758 12969438 16610002 16611625 19460945 19014921 12587719 11587558
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0317034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms Clofibric Acid 11.2017602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.2021047994 19427195 19551842 20137499 19996281 21278145 21071580 18644402 19090486 20452335 21167192 19426721 20492335 19812893 19642983 19499222 18978307 19638242 20434301 18754104 19254457 12112319 2422723 19690152 15885732 19294768 19850985 16942905 2862719 19833225 18648771 12771043 20501860 18977376 20583210 19073162 9163691 20101389 19256749 20405173 10737359 20118626 19255062 15175105
MESH:D008113 Liver Neoplasms Tamoxifen 11.2016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2016984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.386587162 598648 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.383124819 18544905 2563599 18775883 18308698 19126423 19009564 18093689 17854601 18079962 19539802 9362446 17942915 18164116 17174075 18282651 18253720 19004024 16267830 16842330 21159647 19519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3812151625
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.2918516814
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.4620512841 21163286 6695378 20970405
MESH:D008175 Lung Neoplasms Tamoxifen 3.4618625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4619555203 11884234
MESH:D008223 Lymphoma Methotrexate 4.0717352296
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7311731420 19196722 14580682 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D052016 Mucositis Methotrexate 5.5217488658
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 9.823581430
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 9.829029167 3581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 9.8219393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619189210 19196722 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.026679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.6718514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.6720387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.584026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4716540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.4612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.462563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2911118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.2918042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1215067354
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D011565 Psoriasis Cyclosporine 6.0816882103
MESH:D011565 Psoriasis Methotrexate 6.0817410198
MESH:D051437 Renal Insufficiency Methotrexate 4.9317352296
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:C536858 Spastic paraplegia 20, autosomal recessive marker/mechanism
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013576 Syndactyly Methotrexate 5.239562676
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.561399818 7505956 3712494 6582329 6587162
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.567505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.238074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.2316712894 17572228 8653321
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134871645
    • No data
    Releated disease ID Related disease Name
    PA446329Motor Neuron Disease
    No data
    Drug Bank Top

    Simple Query:


      (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


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