AutismKB 2.0

Annotation Detail for PMPCA


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Basic Information Top
Gene Symbol:PMPCA ( Alpha-MPP,FLJ26258,INPP5E,KIAA0123,MGC104197 )
Gene Full Name: peptidase (mitochondrial processing) alpha
Band: 9q34.3
Quick LinksEntrez ID:23203; OMIM: 613036; Uniprot ID:MPPA_HUMAN; ENSEMBL ID: ENSG00000165688; HGNC ID: 18667
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-63683-phosphoinositide degradation
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of PMPCA mRNAincreases expression 20406850
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PMPCA mRNAaffects expression 16483693
D002945 Cisplatin Cisplatin results in decreased expression of PMPCA proteindecreases expression 16803524
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PMPCA mRNAaffects cotreatment|increases expression 17942748
C025299 polyphenols polyphenols results in decreased expression of PMPCA mRNAdecreases expression 16293270
D018038 Sodium Selenite Sodium Selenite results in increased expression of PMPCA mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PMPCA mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2414514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D058186 Acute Kidney Injury Cisplatin 4.2417670903 15814532 12690470
MESH:D000230 Adenocarcinoma Cisplatin 4.6517638652 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.6514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.3314601052
MESH:D001943 Breast Neoplasms Cisplatin 2.1519526202 18382427
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.3116705839
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.3117982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1116685392 12023789
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 2.8817066447 6189445 18337622
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717110522 16919318 17333356 16105132 17681005 15861022 11677210
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1115894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2016354765 15668235 12621046 8697196 15340226
MESH:D003110 Colonic Neoplasms polyphenols 2.7116293270
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3818551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0316285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.5921346803 18551238
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.5919370779
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.5915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5920420201
MESH:D004362 Drug Toxicity Cisplatin 8.8615033597 12231392 12649298 19839026
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.8611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms Cisplatin 2.8315173087 16481741 17638652 16785472 15464296
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.8915464296 15102660
MESH:D034381 Hearing Loss Cisplatin 4.5519898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.6515464296
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2516120746 15340226 12621046
MESH:D006689 Hodgkin Disease Cisplatin 3.8416170182 16200630
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 18606429 15340226 16354765 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation polyphenols 5.5816366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5812200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.4514714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.5815464296
MESH:D007674 Kidney Diseases Cisplatin 3.3815190930 12231392 19839026 18289764 12649298
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2116705839
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.2411231351
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases polyphenols 2.8316698588
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.667678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.276135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Cisplatin 2.5311798837 17225452 6189445
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5311884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3614737004
MESH:D008545 Melanoma Cisplatin 2.5016809738 18176117 17761969 15577323 16432458 12393984 18505091 18332650 16248763 12374674 12883367 11135225 17023156
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.1715990972
MESH:D008654 Mesothelioma Cisplatin 3.3417638057
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.267678174 18551238
MESH:D009369 Neoplasms Cisplatin 3.0516773208
MESH:D009395 Nephritis, Interstitial Cisplatin 4.9315464296
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009447 Neuroblastoma Cisplatin 3.578761367
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.098761367
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7016049721
MESH:D010051 Ovarian Neoplasms Cisplatin 2.9419769630 15464296 6897625 17225452
MESH:D010190 Pancreatic Neoplasms Cisplatin 3.0719003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.6415464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.7917638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3518760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D051437 Renal Insufficiency Cisplatin 4.7715464296
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.7614601052
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.7915464296
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D013274 Stomach Neoplasms Cisplatin 2.3318396642 17522103 15958060
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.6917997062
MESH:D013736 Testicular Neoplasms Cisplatin 4.9317225452 15464296
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.5616049721
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 5.5612973940 15464296 17225452
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7110091137
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.4716803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014625 Vaginal Neoplasms Cisplatin 4.9715577323
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D014839 Vomiting Cisplatin 5.1611897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:00562 Inositol phosphate metabolism
KEGG:01100 Metabolic pathways
KEGG:04070 Phosphatidylinositol signaling system
Pharmacogenomics Knowledge Base Top
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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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