AutismKB 2.0

Annotation Detail for SPG7


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Basic Information Top
Gene Symbol:SPG7 ( CAR,CMAR,FLJ37308,MGC126331,MGC126332,PGN,SPG5C )
Gene Full Name: spastic paraplegia 7 (pure and complicated autosomal recessive)
Band: 16q24.3
Quick LinksEntrez ID:6687; OMIM: 602783; Uniprot ID:SPG7_HUMAN; ENSEMBL ID: ENSG00000197912; HGNC ID: 11237
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1821Spinal cord disease
1792Spastic paraplegia, Hereditary
No data
No data
Desease Name
Spastic paraplegia-7
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SPG7 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SPG7 mRNAaffects expression 21346803
D004052 Diethylnitrosamine [2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 16158176
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with 2-Acetylaminofluorene] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 14656948
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SPG7 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SPG7 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 17942748
D015073 2-Acetylaminofluorene [2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 16158176
D015073 2-Acetylaminofluorene [Diethylnitrosamine co-treated with 2-Acetylaminofluorene] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 14656948
D016627 Oxidopamine Oxidopamine results in increased expression of SPG7 proteinincreases expression 19763263
C006253 pirinixic acid pirinixic acid results in increased expression of SPG7 mRNAincreases expression 18301758
D012643 Selenium Selenium results in increased expression of SPG7 mRNAincreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of SPG7 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPG7 mRNAaffects cotreatment|increases expression 17942748
D014303 Trinitrotoluene Trinitrotoluene affects the expression of SPG7 mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.2211752688 15322242 14514962
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 9.227525203
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D000236 Adenoma 2-Acetylaminofluorene 7.2910737359
MESH:D000236 Adenoma Diethylnitrosamine 7.2910737359 6695378
MESH:D002759 Adenoma, Bile Duct 2-Acetylaminofluorene 6.236705139
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 18.4618056438 16434500 17620307 19061943 17162532 19052882
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.4616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.4616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001289 Attention Deficit Disorder with Hyperactivity Oxidopamine 4.7414699433
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.8217474063
MESH:D001943 Breast Neoplasms Tamoxifen 1.8220390343 18984771 18815881 16873071 19221464 20065188 15565566 19244106 19011961 18855134 17893378 17242785 19189210 19103187 15668708 19059307 19155303 20005174 17049068 19066611 21152245 18997820 17261762 18425577 18629630 18821012 19084267 21138602 11161223 16273361 20859285 19142967 20544844 16818667 19288272 19410462 20135344 19289846 17440819 16202921 19200415 19115204 18351453 19487384 19189212
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.1016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.1016705839
MESH:D006528 Carcinoma, Hepatocellular 2-Acetylaminofluorene 9.1017761372 6705139 3581430 10737359 3084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 9.1016878318 20084675 16779866 19919837 20101231 3084413 16502159 18210153 11831363 17761372 19418558 19701751 16569478 19394651 20512989 18788625 16328049 16288022 19208518 18506893 20727157 20935162 18665156 19519916 19822196 17428255 16698587 17138121 16935385 16807293 10737359 18785209 16830150 20524982 16540662 19052882 18978308 18393292 20214788 19171122 21159647 19539802 18056438 17173139 19335982 17978847 18691550 3581430 16681979 10672840 18494052 20432363 20007298 18971187 20514400 19383236 19107877 17055752 17162532
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.1016924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002386 Cataract Trinitrotoluene 3.9515817613 14694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.016135515
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.012727394 7505956 21159647 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.7419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.7416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0915861022 17681005 17333356 11677210 17110522 16105132 16919318
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1512621046 8697196 15340226 16354765 15668235
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.6917141729 14669216
MESH:D000013 Congenital Abnormalities Trinitrotoluene 9.6915095906
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 19.8818551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 19.8818551238
MESH:D003490 Cyanosis Trinitrotoluene 19.8818551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3220387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6019279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.7821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.7821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 15.7819107877
MESH:D056486 Drug-Induced Liver Injury Selenium 15.7815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.7820420201
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 15.7821346803 18551238
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.4912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.4919031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1320544844 16202921 17893378 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3316302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Diethylnitrosamine 19.9621071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9615345470
MESH:D005234 Fatty Liver pirinixic acid 19.9619236843 20131406
MESH:D005234 Fatty Liver Tamoxifen 19.9614986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4011294989 10048152
MESH:D006333 Heart Failure pirinixic acid 7.2220558911
MESH:D006333 Heart Failure Selenium 7.2217162251
MESH:D006390 Hemangioendothelioma 2-Acetylaminofluorene 5.536705139
MESH:D006394 Hemangiosarcoma 2-Acetylaminofluorene 4.546705139
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 15.5519176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.5512621046 16120746 15340226
MESH:D006529 Hepatomegaly Trinitrotoluene 15.5515817613
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2618606429 16354765 15340226 16959395 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.2017937319
MESH:D007248 Infertility, Male Trinitrotoluene 7.2012150543
MESH:D007249 Inflammation Diethylnitrosamine 8.6718785209
MESH:D007249 Inflammation Tamoxifen 8.6719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6712200463 12878042
MESH:D007251 Influenza, Human Selenium 4.4116624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.1116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.1116705839
MESH:D007680 Kidney Neoplasms Tamoxifen 13.1118625569
MESH:D008064 Lipidoses Tamoxifen 3.2515342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8918407596 20032147 18665156 18522880 19638242
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4615474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.4618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4612878042
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1317034775
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 18.637678174
MESH:D008113 Liver Neoplasms 2-Acetylaminofluorene 18.6318001218 11376686 16273603 10672840 14678523 10737359
MESH:D008113 Liver Neoplasms Diethylnitrosamine 18.6321071580 19256749 20501860 19690152 19255062 19638242 21167192 19426721 19551842 19812893 18648771 18754104 19833225 20492335 15175105 20405173 20434301 10737359 20583210 21278145 19850985 19499222 19996281 12771043 19090486 12112319 2862719 9163691 19254457 20452335 21047994 18644402 19642983 20137499 20101389 19427195 15885732 19294768 19073162 2422723 16942905 18978307 20118626 18977376
MESH:D008113 Liver Neoplasms pirinixic acid 18.6320007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 18.6316684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 18.6316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.852876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental 2-Acetylaminofluorene 14.856150874 1399818 534488
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 14.859362446 18079962 2563599 18253720 17854601 17942915 3124819 18775883 18308698 19009564 18093689 16267830 19539802 18544905 16842330 18164116 19004024 19126423 19519916 18282651 21159647 17174075
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.8512151625
MESH:D008175 Lung Neoplasms 2-Acetylaminofluorene 4.9911376686
MESH:D008175 Lung Neoplasms Diethylnitrosamine 4.9920512841 21163286 20970405 6695378
MESH:D008175 Lung Neoplasms Tamoxifen 4.9918625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9919555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.3315318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.3319196722 14580682 19196723 11731420 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.7619453300
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 18.9718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 18.977678174 18551238
MESH:D009336 Necrosis Trinitrotoluene 18.9718551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 5.909029167 3581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.9019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 9.2720387270
MESH:D019636 Neurodegenerative Diseases Oxidopamine 9.2718514411
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3320387270
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.9812819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.9816049721
MESH:D009784 Occupational Diseases Trinitrotoluene 15.9814694615 17852074 12819281
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4616540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010302 Parkinson Disease, Secondary Oxidopamine 5.6315893579 11771942
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.682563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811399792 11896295 11118676 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012640 Seizures 2,4-dinitrotoluene 10.4618551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.4618551238
MESH:D012640 Seizures Trinitrotoluene 10.4618551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
OMIM:607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE marker/mechanism
MESH:D013088 Spermatocele Ethinyl Estradiol 12.3016709447
MESH:D013088 Spermatocele Tamoxifen 12.3016709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013163 Splenomegaly Trinitrotoluene 5.3815817613
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.097505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 12.3816049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 12.3816049721
MESH:D001749 Urinary Bladder Neoplasms 2-Acetylaminofluorene 12.3815867355 15289314 1399818
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 12.3816712894 17572228 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.6510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.6510091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36067
    • No data
    Releated disease ID Related disease Name
    PA445425Prostatic Neoplasms
    Releated drug ID Related drug Name
    PA449383docetaxel
    PA451644thalidomide
    Drug Bank Top

    Simple Query:


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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


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