AutismKB 2.0

Annotation Detail for DSG2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DSG2 ( ARVC10,ARVD10,CDHF5,CMD1BB,HDGC,MGC117034,MGC117036,MGC117037 )
Gene Full Name: desmoglein 2
Band: 18q12.1
Quick LinksEntrez ID:1829; OMIM: 125671; Uniprot ID:DSG2_HUMAN; ENSEMBL ID: ENSG00000046604; HGNC ID: 3049
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Pathway IDPathway Name
Apoptosis
No data
No data
Pathway IDPathway Name
500272Apoptotic cleavage of cell adhesion proteins
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Cardiac diseases
H00293Arrhythmogenic right ventricular cardiomyopathy (ARVC)
No data
No data
No data
Desease Name
Arrhythmogenic right ventricular dysplasia, familial, 10
Cardiomyopathy, dilated, 1BB
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of DSG2 mRNAincreases expression 18648102
D016572 Cyclosporine Cyclosporine results in increased expression of DSG2 mRNAincreases expression 20106945
D004958 Estradiol Estradiol affects the expression of DSG2 mRNAaffects expression 15598610
C029938 nickel sulfate nickel sulfate results in increased expression of DSG2 mRNAincreases expression 16780908
C006253 pirinixic acid pirinixic acid results in decreased expression of DSG2 mRNAdecreases expression 18445702
D014212 Tretinoin Tretinoin results in increased expression of DSG2 mRNAincreases expression 16236135
D014302 Trinitrobenzenesulfonic Acid Trinitrobenzenesulfonic Acid results in increased expression of DSG2 mRNAincreases expression 17982090
D014635 Valproic Acid Valproic Acid results in increased expression of DSG2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.828875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D055371 Acute Lung Injury nickel sulfate 10.0216100012 12718980 11954676 19131640
MESH:D055371 Acute Lung Injury pirinixic acid 10.0218653653
MESH:D000230 Adenocarcinoma Estradiol 2.1411473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.883712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8216434500
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
OMIM:610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 marker/mechanism
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001321 Autistic Disorder Valproic Acid 1.9918396377 18558336 17688650 18316065 19460635 17507914 19232924 18985861 20603192 17157402 18177632 15238991 18775368 16609825 18940202
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4011289319 1440618
MESH:D001714 Bipolar Disorder Valproic Acid 3.1817594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8019483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.8016197459 16206674
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.548888407
MESH:D001943 Breast Neoplasms Estradiol 2.1212948864 17018787 17289903 19861407 14630087 18497071 16675129 17261762
MESH:D001943 Breast Neoplasms Tretinoin 2.1216873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8016111702
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.753581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7516924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.751917145
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3416096774 16051514
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 12.097505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.0912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.0918566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.429022650 19486331
MESH:D002779 Cholestasis Cyclosporine 14.4219486331
MESH:D002779 Cholestasis pirinixic acid 14.4219176532
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tretinoin 2.759407595
MESH:D003092 Colitis Tretinoin 10.8217035595
MESH:D003092 Colitis Trinitrobenzenesulfonic Acid 10.8217991707 16474422 16867261 18200517 11698051 16804969 17936198 16782535 18023891
MESH:D003093 Colitis, Ulcerative Trinitrobenzenesulfonic Acid 3.5117276891
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.7416925845 9211117 17551590 9224671 8800419 14991402 10589399 9142499 9664655 9125849
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.7417688650 8888407 16575769
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 8.172524372 12868966 11906362 18759878 14531868 8156756 11298694 8970840
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 8.1716780908 16823706 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.753621924 2952479
MESH:D003928 Diabetic Nephropathies Estradiol 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.1218692083 16192314 9328219 11289319 6679447 18289764 6482804 8291058 9653073 18648102 9022650 7440962 1440618
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.1219641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.311851702
MESH:D004487 Edema pirinixic acid 2.7212083418
MESH:D004489 Edema, Cardiac Tretinoin 4.8418230668
MESH:D016889 Endometrial Neoplasms Estradiol 7.9111473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Tretinoin 7.9116569247
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.4617275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.293922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0420417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.807562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.607750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.403659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005124 Eye Abnormalities Tretinoin 3.7516938888 9664655
MESH:D005234 Fatty Liver Cyclosporine 14.5219224547
MESH:D005234 Fatty Liver pirinixic acid 14.5219236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 14.5219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.2616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.418888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D005355 Fibrosis Cyclosporine 16.7812639820 12168785
MESH:D005355 Fibrosis Tretinoin 16.7817994277
MESH:D005355 Fibrosis Trinitrobenzenesulfonic Acid 16.7817994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0114991402 9664655
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.796705139
MESH:D006529 Hepatomegaly pirinixic acid 3.3019176532 18467677 16221962 19772884
MESH:D006558 Herpes Genitalis Estradiol 5.4115709030
MESH:D019584 Hot Flashes Estradiol 4.1317088409
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Cyclosporine 2.1710903974
MESH:D015212 Inflammatory Bowel Diseases Trinitrobenzenesulfonic Acid 3.6618200517
MESH:D007333 Insulin Resistance Estradiol 7.6916627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.6916306350
MESH:D007410 Intestinal Diseases Tretinoin 11.0317994277
MESH:D007410 Intestinal Diseases Trinitrobenzenesulfonic Acid 11.0317994277
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.408074119 9022650
MESH:D007569 Jaw Abnormalities Tretinoin 4.1415992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Cyclosporine 6.368314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 6.3615618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.576582329
MESH:D007680 Kidney Neoplasms Cyclosporine 13.5712371664
MESH:D007680 Kidney Neoplasms Estradiol 13.5715610895
MESH:D007938 Leukemia Tretinoin 2.8717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9416932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.0116294345 19850784 17596541
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0117596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3017339181 16935935 17294898 16766008 16891316 17506722 17107899 16331271 17649720 15748426 9834237 12679006 16140955 19225113 17217047 17301526 19642359 19029980 17712046 17368321 19035177 16788101 16823087 19075265 17361223
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3315034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5814659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5815474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5818397230 16248980
MESH:D008113 Liver Neoplasms pirinixic acid 1.8915890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.676587162 598648 3712494 1399818
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7011408345 11807958 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.8619453300
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D008881 Migraine Disorders Valproic Acid 3.3618803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.8117596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.8117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.8716810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.8716411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms pirinixic acid 5.2617405874
MESH:D009369 Neoplasms Tretinoin 5.2616946489 16594593
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 10.6311399458 16427766
MESH:D009421 Nervous System Malformations Tretinoin 10.639125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 13.006679447
MESH:D009436 Neural Tube Defects Tretinoin 13.009142499
MESH:D009436 Neural Tube Defects Valproic Acid 13.008888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.654026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010051 Ovarian Neoplasms Estradiol 5.0219401270
MESH:D010051 Ovarian Neoplasms Tretinoin 5.0216936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5315976015
MESH:D010195 Pancreatitis Trinitrobenzenesulfonic Acid 4.4617698068
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1720603192
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1320887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0416740699
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D019310 Pseudolymphoma Valproic Acid 4.9212752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.7516116481 16283617
MESH:D012208 Rhabdomyosarcoma Valproic Acid 11.7519155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8914763951 17978042 3137016 16876388 1511512 15475178 11738929 11044598
MESH:D012878 Skin Neoplasms Tretinoin 2.7016467112
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.756587162 6582329 3712494 1399818 7505956
MESH:D013964 Thyroid Neoplasms Tretinoin 7.7517045167 16026305
MESH:D013978 Tibial Fractures Estradiol 5.0619048282
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.358074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
Pathway ID Pathway Name
REACT:578 Apoptosis
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27502
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA446847Arrhythmogenic Right Ventricular Dysplasia
    PA445738Stevens-Johnson Syndrome
    Releated drug ID Related drug Name
    PA452154beta-lactam antibacterials, penicillins
    Drug Bank Top

    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved