AutismKB 2.0

Annotation Detail for PMS2


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Basic Information Top
Gene Symbol:PMS2 ( HNPCC4,PMS2CL,PMSL2 )
Gene Full Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Band: 7p22.1
Quick LinksEntrez ID:5395; OMIM: 600259; Uniprot ID:PMS2_HUMAN; ENSEMBL ID: ENSG00000122512; HGNC ID: 9122
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03430Mismatch repair
No data
Pathway IDPathway Name
200101Direct p53 effectors
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1790Hyperaldosteronism
1934Cancer
No data
No data
Desease Name
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PMS2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PMS2 mRNAaffects expression 17562736
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of PMS2 mRNAdecreases expression 11566570
D000431 Ethanol Ethanol results in decreased expression of PMS2 mRNAdecreases expression 11566570
D008770 Methylnitrosourea Methylnitrosourea promotes the reaction [MSH2 protein binds to MLH1 protein binds to PMS2 protein]affects binding|increases reaction 16204460
D008770 Methylnitrosourea PMS2 protein results in increased susceptibility to Methylnitrosoureaincreases response to substance 16426742
D008770 Methylnitrosourea PMS2 protein affects the susceptibility to Methylnitrosoureaaffects response to substance 12967659
C008493 methylselenic acid methylselenic acid results in increased expression of PMS2 mRNAincreases expression 12517777
D020849 Raloxifene Raloxifene results in increased expression of PMS2 mRNAincreases expression 16202921
C017947 sodium arsenite sodium arsenite results in increased expression of PMS2 mRNAincreases expression 11353140
C047246 temozolomide PMS2 protein affects the susceptibility to temozolomideaffects response to substance 12967659
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 4.2017676605 18926900
MESH:D000138 Acidosis Ethanol 4.7811192467
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1615113128 15688392
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.0215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.2217306315 16712894
MESH:D000419 Albuminuria Raloxifene 4.8317451421 17308373
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.6415451039 15451040
MESH:D000544 Alzheimer Disease Raloxifene 2.5815800139
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D000853 Anophthalmos Ethanol 5.0815513904
MESH:D001008 Anxiety Disorders Ethanol 4.1711141031
MESH:D001254 Astrocytoma temozolomide 6.7315865885
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001930 Brain Injuries Raloxifene 4.7316580743
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.6511306469 16253758 14633655
MESH:D001943 Breast Neoplasms Raloxifene 2.6516912660 16837676 15758505 17440819 15572757 17242785 17952589 17595753 17893378 15775269 17049068 17261762
MESH:D002056 Burns Ethanol 4.9116374292
MESH:D019080 Cafe-au-Lait Spots marker/mechanism
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0410355542 15673190 3786805 16097048 18705752 16227642 16050911 15721981 16192424 16124888 16011737 15700767
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.1816705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.183084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 9.1818788625
MESH:D006528 Carcinoma, Hepatocellular Ethanol 9.1818788625 15763234 15289165
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 9.1817306315 16507464 15276417
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4318572023
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 4.2717572228
MESH:D006332 Cardiomegaly Ethanol 3.5419332462
MESH:D002318 Cardiovascular Diseases Raloxifene 3.5815775269
MESH:D002386 Cataract Acetaminophen 7.9310977129
MESH:D002386 Cataract Methylnitrosourea 7.9312484553
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.156135515
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 12.157505956 2727394
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.1520056578 19524636
MESH:D002971 Cleft Lip Ethanol 3.6815513904
MESH:D002972 Cleft Palate Ethanol 3.2515513904
MESH:D003072 Cognition Disorders Raloxifene 4.8815800139
MESH:D003123 Colorectal Neoplasms, Hereditary Nonpolyposis marker/mechanism
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3319302082 11873399 15451039 15451040 10194807 15513904 11198716
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D003865 Depressive Disorder, Major Raloxifene 4.3417474826
MESH:D003928 Diabetic Nephropathies Raloxifene 4.1217308373 17451421 15920148
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4416227642 19923254 16081117 12594235 16393943 11743745 12958197 11287661 15968718 10663392 17522070 11529661 16109766 18713872 11421492 19420014 12705907 12153990 19085960 19164858 16485898 11739529 12392966 15619225 19739265 10915739 19416960 14550746 14986274 12540782 16177239 2444490 11461765 18071297 14725611 17906064 19370779 17562736 16781746 11834606 10774834
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.447440962 10915739 16227642 15968718 7179309 19085960 6884620 9327722 15027814 2869522 3732212 4309450 7120509 17522070 3786805 21278145 19336974 16177239 11566570 15998439 10092053 6623471
MESH:D056486 Drug-Induced Liver Injury Ethanol 9.4411566570
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004487 Edema Raloxifene 3.5415860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 4.2315845917
MESH:D004938 Esophageal Neoplasms Ethanol 2.7916704527
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.5261145 15959796 16239168 12795759 17595544 12631006 19224547 16045604
MESH:D005234 Fatty Liver Ethanol 14.5216409862 18620774 19236843
MESH:D005234 Fatty Liver Raloxifene 14.5217473493
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.9817920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.5810194807 16946407 15451040 15513904
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.5211555667
MESH:D005355 Fibrosis Carbon Tetrachloride 3.7118705752
MESH:D005756 Gastritis Acetaminophen 12.2116983495
MESH:D005756 Gastritis Ethanol 12.2115046732
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9616452187
MESH:D005909 Glioblastoma marker/mechanism
MESH:D005909 Glioblastoma temozolomide 5.0315865885
MESH:D005910 Glioma Methylnitrosourea 7.239825942
MESH:D005910 Glioma temozolomide 7.2316327979 10871815
MESH:D006331 Heart Diseases Raloxifene 3.6711110106
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8319900420 19110552
MESH:D006689 Hodgkin Disease sodium arsenite 3.3312676792
MESH:D006930 Hyperalgesia Acetaminophen 8.3616870215
MESH:D006930 Hyperalgesia Ethanol 8.3618783367
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006973 Hypertension Raloxifene 2.9317577099 15787275
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D007248 Infertility, Male Methylnitrosourea 7.567193160
MESH:D007248 Infertility, Male sodium arsenite 7.5612646999 15346721
MESH:D007569 Jaw Abnormalities Ethanol 4.6115513904
MESH:D007674 Kidney Diseases Acetaminophen 6.3312587719 15629191
MESH:D007674 Kidney Diseases sodium arsenite 6.3320008137
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.1516705839
MESH:D007859 Learning Disorders Ethanol 4.4715451040
MESH:D007889 Leiomyoma Raloxifene 4.7216973256
MESH:D007938 Leukemia temozolomide 4.7617500047
MESH:D017880 Limb Deformities, Congenital Ethanol 9.1317676605
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 9.1315526292
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.1616943688 16239168 17157831 17174718 21278145 17334410 11903743 16221502 11408273
MESH:D008103 Liver Cirrhosis Ethanol 7.1615289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.3818295389
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.7317761835 16015684 17714472 18420326 17805973 14716496 12898905 18481824 16136751 17900296 15362042 18166357 15818738 16097048 12546737 11481614 18472332 18006644 17869086 18187930 12741479 16033810 15673190 17823541 15730626 15925388 16248980 15370692 18210741 17944888 18472094 18705752 16638106 15893842 18429990 12389079 18339082 14724832 18412020 20821823 15123356 10355542 17708605 17698563 14748882 12632512 18277467 16192424 15996030 17721639 17922224 17631135 18376398 18279442 17557913 18156304 18251166 18418968 16027843 17565644 15338365 15057751 12586293 18054572 17481882 17525996 12632514 12666154 15931870 15959796 12649538 12445418 18395914 12667390 18317297 17640975 12445421 14620537 18263696 14716833 15876570 16011737 12958196 13678700 15650968 18205269 17976157 14512876 15052691 17766677 16116963 12609069 18395095
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.7318166357
MESH:D008107 Liver Diseases Acetaminophen 4.0519460945 19784758 19014921 11587558 12969438 12587719 16610002 16611625
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0515830285 16964402 15720792 16246199 17285989
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.9117207112 17347304
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.0616871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.0616899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.877678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.8719294768
MESH:D008113 Liver Neoplasms sodium arsenite 7.8715276417 16712894
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.322876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3212014681 15583823
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.7216080182
MESH:D008171 Lung Diseases sodium arsenite 3.3019095001
MESH:D008175 Lung Neoplasms Methylnitrosourea 2.8918062963
MESH:D008175 Lung Neoplasms sodium arsenite 2.8917077188 19931552 15276417 16712894 17306315
MESH:D008223 Lymphoma Methylnitrosourea 4.1511418001 16257854
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.9914633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 3.7017131329 10767621 11807958 16619500 14633655 14999141 16051031 10838139 16827153 19196723 15688392 16944150 12931682 17020996 11751437 15113128 15313902
MESH:D008545 Melanoma sodium arsenite 4.1419082730 16487513
MESH:D008545 Melanoma temozolomide 4.1416432458 12374674 16248763 16260697 15577323 18281670 16260693 17576461 10623706 12829675 16225601 17623835
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008569 Memory Disorders Ethanol 4.4218411066 15451040
OMIM:276300 MISMATCH REPAIR CANCER SYNDROME marker/mechanism
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.8715863610
MESH:D009101 Multiple Myeloma Raloxifene 3.5816497877
MESH:D009232 Myxoma Raloxifene 5.8716343187
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.1518551238 7678174
MESH:D009362 Neoplasm Metastasis marker/mechanism 17717427
MESH:D009369 Neoplasms Methylnitrosourea 5.7515533788
MESH:D009369 Neoplasms sodium arsenite 5.7511559025
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 10.2812696579
MESH:D009374 Neoplasms, Experimental sodium arsenite 10.2820056578
MESH:D009436 Neural Tube Defects sodium arsenite 3.2712854658
MESH:D009442 Neurilemmoma Methylnitrosourea 5.7711555667
MESH:D009447 Neuroblastoma temozolomide 4.9115176712
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D018242 Neuroectodermal Tumors, Primitive marker/mechanism
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6216049721
MESH:D010024 Osteoporosis Raloxifene 3.5119059307 17882678 15775268
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.4517823083 17893378 15758505 15579764
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4915276417 17306315
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Ethanol 5.9912384795
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 5.9916965848
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 2.1515682402 12376480
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.1516205645
MESH:D011471 Prostatic Neoplasms Raloxifene 2.1516536755 15731164 16220300
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.1516039940
MESH:D011693 Purpura Raloxifene 5.8715770314
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5618172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 5.7711555667
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5518551238
MESH:D012640 Seizures Ethanol 6.559754883
MESH:D012878 Skin Neoplasms sodium arsenite 2.7818572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9512854658
MESH:D013274 Stomach Neoplasms Ethanol 2.9918456281
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.9915930296 18593901 16257854
MESH:D013276 Stomach Ulcer Ethanol 3.739211565 17918041 9562338 11906479 16755016 17189318
MESH:D020521 Stroke Raloxifene 3.9816837676
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.459754883
MESH:D015173 Supratentorial Neoplasms marker/mechanism
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.5211418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 4.073078959 7505956
MESH:D013978 Tibial Fractures Raloxifene 5.5319048282
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7916049721
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 8.7917572228
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.7916452187 16712894 17306315 11723127
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9611813266
MESH:D014625 Vaginal Neoplasms temozolomide 6.2415577323
MESH:D014652 Vascular Diseases sodium arsenite 4.7117056641
MESH:D054556 Venous Thromboembolism Raloxifene 5.5316837676
MESH:D014846 Vulvar Neoplasms Raloxifene 5.8716343187
Pathway ID Pathway Name
KEGG:03430 Mismatch repair
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33448
    • No data
    Releated disease ID Related disease Name
    PA446108Colorectal Neoplasms
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB02930 - Phosphothiophosphoric Acid-Adenylate Ester
    DB03431 - Adenosine-5'-Diphosphate
    No data
    No data
    No data

    Simple Query:


      (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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