AutismKB 2.0

Annotation Detail for PGM2L1


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Basic Information Top
Gene Symbol:PGM2L1 ( BM32A,FLJ32029 )
Gene Full Name: phosphoglucomutase 2-like 1
Band: 11q13.4
Quick LinksEntrez ID:283209; OMIM: 611610; Uniprot ID:PGM2L_HUMAN; ENSEMBL ID: ENSG00000165434; HGNC ID: 20898
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00500Starch and sucrose metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PGM2L1 mRNAdecreases expression 20018196
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PGM2L1 mRNAaffects expression 17484886
C071834 glycidamide glycidamide results in decreased expression of PGM2L1 mRNAdecreases expression 17822822
C051890 irinotecan irinotecan analog results in increased expression of PGM2L1 mRNAincreases expression 18927307
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PGM2L1 mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.263786805 15721981 16124888 16227642 16192424 15673190 16050911 18705752 10355542 15700767 16011737 16097048
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 1.8618788625
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9620889678
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003110 Colonic Neoplasms irinotecan 2.6417287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3617159606 15273666 18259882 18509181 16391804 16303861 17454858
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.112869522 7440962 15968718 15027814 6884620 7120509 9327722 15998439 10915739 7179309 16227642 3786805 17522070 19336974 4309450 11566570 21278145 3732212 10092053 6623471 16177239 19085960
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.9412631006 17595544 19224547 16045604 61145 16239168 15959796 12795759
MESH:D005234 Fatty Liver pirinixic acid 8.9419236843 20131406
MESH:D005355 Fibrosis Carbon Tetrachloride 3.9418705752
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006505 Hepatitis Carbon Tetrachloride 4.0319900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 3.4819772884 18467677 16221962 19176532
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.0716899240
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5715338365
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9817334410 11903743 16221502 11408273 17157831 16943688 16239168 17174718 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.4113678700 15370692 11481614 18054572 15123356 18429990 18395095 14512876 12667390 18279442 18156304 17721639 14748882 12898905 16033810 15730626 18187930 12649538 18339082 15673190 18166357 17823541 18481824 14716496 16097048 16027843 15362042 14620537 17869086 18472094 15931870 18006644 17631135 17698563 15959796 18376398 12632512 12632514 15057751 12741479 18705752 12389079 16192424 12445418 16116963 15925388 16638106 15996030 15876570 17805973 18317297 18205269 15052691 17761835 17900296 18395914 17525996 18277467 17481882 18251166 15893842 12546737 15650968 17714472 18263696 17557913 12609069 17708605 12445421 12586293 18472332 16248980 18420326 15338365 12958196 18412020 17640975 16015684 18418968 15818738 14724832 12666154 16011737 18210741 17976157 10355542 17766677 17565644 14716833 16136751 17944888 17922224 20821823
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4115474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1516246199 16964402 15720792 17285989 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.6515123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.0414706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.8019294768
MESH:D008113 Liver Neoplasms pirinixic acid 4.8016377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.8115583823 12014681
MESH:D052016 Mucositis irinotecan 5.5517159606
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009362 Neoplasm Metastasis irinotecan 3.2818259882
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009447 Neuroblastoma irinotecan 3.648761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.278761367
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
Pathway ID Pathway Name
KEGG:00520 Amino sugar and nucleotide sugar metabolism
KEGG:00052 Galactose metabolism
KEGG:00010 Glycolysis / Gluconeogenesis
KEGG:01100 Metabolic pathways
KEGG:00030 Pentose phosphate pathway
KEGG:00230 Purine metabolism
KEGG:00500 Starch and sucrose metabolism
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Syndromic Genes

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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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