AutismKB 2.0

Annotation Detail for POLRMT


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Basic Information Top
Gene Symbol:POLRMT ( APOLMT,MTRNAP,MTRPOL,h-mtRPOL )
Gene Full Name: polymerase (RNA) mitochondrial (DNA directed)
Band: 19p13.3
Quick LinksEntrez ID:5442; OMIM: 601778; Uniprot ID:RPOM_HUMAN; ENSEMBL ID: ENSG00000099821; HGNC ID: 9200
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2211Chronic progressive external ophthalmoplegia
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLRMT mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLRMT mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of POLRMT mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 5.0117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.9014692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.2311256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9315885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2416105132 16919318 11677210 17333356 17110522 17681005 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.268697196 15668235 15340226 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9716714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.8612538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.3615345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5511294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.128697196 15340226 16959395 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.5716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 4.0712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7917937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811118676 11222880 11896295 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 4.2015861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 5.0116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.2311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.6215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.9714692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0914671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
Pathway ID Pathway Name
REACT:1788 Transcription
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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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