AutismKB 2.0

Annotation Detail for SLC25A30


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Basic Information Top
Gene Symbol:SLC25A30 ( KMCP1 )
Gene Full Name: solute carrier family 25, member 30
Band: 13q14.13
Quick LinksEntrez ID:253512; OMIM: 610793; Uniprot ID:KMCP1_HUMAN; ENSEMBL ID: ENSG00000174032; HGNC ID: 27371
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SLC25A30 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SLC25A30 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of SLC25A30 mRNAincreases expression 19774075
D004041 Dietary Fats Dietary Fats results in increased expression of SLC25A30 mRNAincreases expression 18042831
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of SLC25A30 mRNAincreases expression 17005392
D001556 Lindane Lindane results in decreased expression of SLC25A30 mRNAdecreases expression 17785943
C041786 palm oil palm oil results in increased expression of SLC25A30 mRNAincreases expression 18042831
D010634 Phenobarbital Phenobarbital results in decreased expression of SLC25A30 mRNAdecreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SLC25A30 mRNAaffects binding|increases activity|increases expression 18489776
C006253 pirinixic acid pirinixic acid results in increased expression of SLC25A30 mRNAincreases expression 17426115
18301758
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SLC25A30 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with AHR gene mutant form] results in decreased expression of SLC25A30 mRNAaffects cotreatment|decreases expression 19465110
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SLC25A30 mRNAincreases expression 18172886
D013752 Tetracycline Tetracycline results in increased expression of SLC25A30 mRNAincreases expression 16917069
D014635 Valproic Acid Valproic Acid results in increased expression of SLC25A30 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 15.136195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.1314514962 11752688 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 15.138875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0419490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.2317620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.2316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.2316835633
MESH:D000382 Agricultural Workers' Diseases Lindane 4.5212661182
MESH:D000550 Amblyopia Valproic Acid 5.4117688650
MESH:D000686 Amyloidosis Diethylstilbestrol 4.6115469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6617497229
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9020041841 18218290 18057881
MESH:D001161 Arteriosclerosis Dietary Fats 4.0315238619
MESH:D001281 Atrial Fibrillation Amiodarone 3.9819698954 18651412
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8515238991 17507914 18985861 17688650 18558336 18940202 16609825 19460635 20603192 19232924 18775368 17157402 18177632 18396377 18316065
MESH:D001714 Bipolar Disorder Valproic Acid 3.1320046352 17594078
MESH:D001778 Blood Coagulation Disorders Amiodarone 15.9719483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.9719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 15.9712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.2515746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.258888407
MESH:D001943 Breast Neoplasms Dietary Fats 2.0220435547
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.0215324884 17129689
MESH:D001943 Breast Neoplasms Lindane 2.0214688026
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7116705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.713084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 6.7116924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.7117173139 20007298 20935162 1701930 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9219225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.2418974383
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.394080065
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7420734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis pirinixic acid 2.9119176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1416354765 8697196 15340226 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1614669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5010048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.508888407 17688650 16575769
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.6812952375 16002989
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.1518551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.6818551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.6819085960 18071297 19420014 19739265 16081117 16227642 11529661 10663392 12392966 14725611 2444490 12705907 19923254 10915739 16109766 17906064 17522070 11834606 19370779 12153990 17562736 16781746 14550746 18713872 15619225 11287661 16485898 11461765 16393943 14986274 19164858 19416960 11743745 11421492 10774834 11739529 12594235 16177239 12958197 15968718 12540782
MESH:D056486 Drug-Induced Liver Injury Amiodarone 15.6818218290 15265979
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.6820420201
MESH:D056486 Drug-Induced Liver Injury Tetracycline 15.6817522070
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 15.6819641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5318367378
MESH:D004421 Dystonia Phenobarbital 10.831851702
MESH:D004421 Dystonia Valproic Acid 10.831851702
MESH:D004487 Edema pirinixic acid 6.9012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.9012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0818230668 15322242 16714409
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.8516402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.5316804899 15700306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 11.263659116
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 11.2617275665 3659116
MESH:D004828 Epilepsies, Partial Phenobarbital 10.563922381 11558140
MESH:D004828 Epilepsies, Partial Valproic Acid 10.563922381 16628512
MESH:D004827 Epilepsy Phenobarbital 6.8420417680
MESH:D004827 Epilepsy Valproic Acid 6.8420417680 18234410
MESH:D004832 Epilepsy, Absence Phenobarbital 9.196401628
MESH:D004832 Epilepsy, Absence Valproic Acid 9.196426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 11.777750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 11.777750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 11.003659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 11.003659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Amiodarone 25.9314986274
MESH:D005234 Fatty Liver Dietary Fats 25.9319004024 18296743 19551842 17967931
MESH:D005234 Fatty Liver pirinixic acid 25.9320131406 19236843
MESH:D005234 Fatty Liver Tetracycline 25.9316917069 19224547
MESH:D005234 Fatty Liver Valproic Acid 25.9314986274 19224547
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7216534752 15751030 16611131 16002989 16513791
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.268888407 18558336
MESH:D005355 Fibrosis Dietary Fats 9.0918296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0920067830
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.1016452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3811294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006529 Hepatomegaly Amiodarone 21.9015265979
MESH:D006529 Hepatomegaly Phenobarbital 21.9016109766
MESH:D006529 Hepatomegaly pirinixic acid 21.9019772884 19176532 18467677 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 21.9016120746 15340226 12621046
MESH:D006849 Hydrocephalus Valproic Acid 5.0217688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2215340226 16959395 18606429 8697196 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.7916870215
MESH:D006937 Hypercholesterolemia Amiodarone 9.548137927 9751232
MESH:D006937 Hypercholesterolemia Dietary Fats 9.5421332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.7321332399
MESH:D006965 Hyperplasia Diethylstilbestrol 4.5712960047 14722030
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 4.7216002989
MESH:D007037 Hypothyroidism Amiodarone 4.6518020914 17991464
MESH:D007246 Infertility Diethylstilbestrol 4.4815036965
MESH:D007249 Inflammation Dietary Fats 5.0920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0912200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 7.4818457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.4816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2612587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 7.8515003126 16762066 14681315
MESH:D007859 Learning Disorders Diethylstilbestrol 4.2017184923
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D008064 Lipidoses Amiodarone 3.5915342952 17567588
MESH:D008103 Liver Cirrhosis Dietary Fats 6.8518296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.8521047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1612878042
MESH:D008107 Liver Diseases Acetaminophen 6.7719460945 12587719 19784758 16611625 19014921 11587558 12969438 16610002
MESH:D008107 Liver Diseases Lindane 6.771715830
MESH:D008107 Liver Diseases Phenobarbital 6.7719363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3417185352 16871587
MESH:D008113 Liver Neoplasms Diethylstilbestrol 11.0115890375 16712894
MESH:D008113 Liver Neoplasms Phenobarbital 11.018742319 21047994 19812893 15975961 19073162 19482888
MESH:D008113 Liver Neoplasms pirinixic acid 11.0115890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0116984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.012563599 1399818 6150874 17172636 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0112151625
MESH:D008133 Long QT Syndrome Amiodarone 3.6611989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.4412587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 11.8618516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 11.8617228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.3015166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.5515700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.6916002989
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008881 Migraine Disorders Valproic Acid 3.2718803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.148888407
MESH:D009181 Mycoses Amiodarone 5.0812754197 17974566
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6317484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0118551238
MESH:D009369 Neoplasms Diethylstilbestrol 8.7015313581
MESH:D009369 Neoplasms Lindane 8.7016818664 12807735
MESH:D009369 Neoplasms pirinixic acid 8.7017405874
MESH:D009395 Nephritis, Interstitial Tetracycline 4.969884423
MESH:D009421 Nervous System Malformations Diethylstilbestrol 10.0711399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0714600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.208888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D009765 Obesity Dietary Fats 4.5220132043 18674790 18457598 17217161 20518802 21332399 11836018 19632207 16723640
MESH:D009765 Obesity pirinixic acid 4.5220558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.5312819281 16049721
MESH:D010018 Osteomalacia Phenobarbital 4.5217016548
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5316965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010391 Pemphigoid, Bullous Tetracycline 5.6111026799
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.3414722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.8115687265 16977796
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.722563599
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 17.2117184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 17.2111399792 11118676 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 17.2120603192
MESH:D017096 Prion Diseases Tetracycline 5.5710903871
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.7017136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Lindane 3.7014688026 12661182
MESH:D019310 Pseudolymphoma Phenobarbital 12.7812752131
MESH:D019310 Pseudolymphoma Valproic Acid 12.7812752131 11422049
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8911597910 12832656 12490602
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2919155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures 2,4-dinitrotoluene 14.7618551238
MESH:D012640 Seizures Lindane 14.7615475178 7539098 12842176
MESH:D012640 Seizures Phenobarbital 14.7611442880 3137016 16876388 4039156
MESH:D012640 Seizures Valproic Acid 14.7617978042 16876388 3137016 14763951 1511512 11738929 15475178 11044598
MESH:D003294 Seizures, Febrile Phenobarbital 4.986407741
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.2418724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0916192470
MESH:D013088 Spermatocele Diethylstilbestrol 4.8916709447 16002989
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7112833885
MESH:D013276 Stomach Ulcer Amiodarone 3.4218087811
MESH:D013610 Tachycardia Amiodarone 4.4211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3219225199
MESH:D013959 Thyroid Diseases Amiodarone 12.6419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.6412697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.141399818
MESH:D013971 Thyrotoxicosis Amiodarone 5.0018020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.3417467628 11989578
MESH:D014178 Translocation, Genetic Valproic Acid 5.4117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.673119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3216049721
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 5.3216712894 16452187 17306315
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.788888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.4710091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.1416175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.3414652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.1916690809 15809267
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.5716002989 16513791
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D015430 Weight Gain Dietary Fats 3.8316723640
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


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