AutismKB 2.0

Annotation Detail for DEFA4


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Basic Information Top
Gene Symbol:DEFA4 ( DEF4,HNP-4,HP-4,HP4,MGC120099,MGC138296 )
Gene Full Name: defensin, alpha 4, corticostatin
Band: 8p23.1
Quick LinksEntrez ID:1669; OMIM: 601157; Uniprot ID:DEF4_HUMAN; ENSEMBL ID: ENSG00000164821; HGNC ID: 2763
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of DEFA4 mRNAincreases expression 15761015
15070760
D014212 Tretinoin Tretinoin results in increased expression of DEFA4 mRNAincreases expression 17218384
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3719825857 11798837
MESH:D000505 Alopecia Tretinoin 4.0215955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.3516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3416292516
MESH:D001249 Asthma Tretinoin 2.4516456186
MESH:D001471 Barrett Esophagus Tretinoin 5.0816935849
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 11.0616206674
MESH:D001778 Blood Coagulation Disorders Tretinoin 11.0616206674 16197459
MESH:D001943 Breast Neoplasms Tretinoin 2.2216873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.4816813970
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.9411589617
MESH:D018236 Carcinoma, Embryonal Tretinoin 6.2316168501
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.2516217749 15553829 14691202 15073043 11135700
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.251917145
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.9419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.6312490120
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3916096774 16051514
MESH:D002386 Cataract Tretinoin 3.3417460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.4816129372
MESH:D002822 Choriocarcinoma Tretinoin 6.2316461808
MESH:D002972 Cleft Palate Tretinoin 2.839407595
MESH:D003092 Colitis Tretinoin 4.4717035595
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8720501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.8612609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7810525206
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.789211117 14991402 9142499 9664655 9125849 10589399 8800419 17551590 16925845 9224671
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.7015213294
MESH:D004489 Edema, Cardiac Tretinoin 5.5418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.4016569247
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.4012903497
MESH:D005124 Eye Abnormalities Tretinoin 3.9416938888 9664655
MESH:D005234 Fatty Liver arsenic trioxide 3.8415073043
MESH:D005355 Fibrosis Tretinoin 4.2717994277
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.9416904648
MESH:D005909 Glioblastoma Tretinoin 3.3017312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 6.2316084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.119664655 14991402
MESH:D006930 Hyperalgesia Tretinoin 3.6216870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.3316778211
MESH:D007410 Intestinal Diseases Tretinoin 4.5317994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.4517551590 15992940
MESH:D007938 Leukemia arsenic trioxide 7.0215070760
MESH:D007938 Leukemia Tretinoin 7.0217143497
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.3517077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 5.1916972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7914633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 11.3719077051
MESH:D007951 Leukemia, Myeloid Tretinoin 11.3716482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.1016467208 19850784 16968895 17050201 20471514
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.1019850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 8.6312679006 17107899 19075265 17217047 19225113 19642359 11161223 12712474 17869043 17649720 15622746 16823087 12018890 9834237 16966277 15213294 16331271 11468182 15748426 19035177 15336539 16112521 16330433 17712046 16891316
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 8.6317301526 17339181 12679006 16788101 16140955 17107899 17506722 19642359 16935935 17361223 17217047 17294898 17368321 9834237 17649720 19075265 16823087 16331271 19029980 15748426 19225113 16766008 16891316 17712046 19035177
MESH:D015458 Leukemia, T-Cell arsenic trioxide 5.0316882451
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.659224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008113 Liver Neoplasms arsenic trioxide 2.4814682389
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 3.0120377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.7315213294
MESH:D008175 Lung Neoplasms arsenic trioxide 1.8719825857 11798837
MESH:D008527 Medulloblastoma Tretinoin 2.9317453147
MESH:D008545 Melanoma Tretinoin 1.9916752155
MESH:D008591 Meningomyelocele Tretinoin 5.1916940565
MESH:D009101 Multiple Myeloma arsenic trioxide 3.4411468182 19549372 19417148 14977855 15949261
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.7418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 8.2016882451 16105982
MESH:D009190 Myelodysplastic Syndromes Tretinoin 8.2017596541
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.6316624393
MESH:D009369 Neoplasms Tretinoin 2.6016594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.459125849
MESH:D009436 Neural Tube Defects arsenic trioxide 8.3010525206
MESH:D009436 Neural Tube Defects Tretinoin 8.309142499
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.2719769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms Tretinoin 5.2716936753
MESH:D010146 Pain Tretinoin 3.3316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.7415580305
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.7415976015
MESH:D010235 Paraganglioma arsenic trioxide 4.7719927285
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2019131511
MESH:D011507 Proteinuria Tretinoin 4.2116636307
MESH:D011625 Pterygium Tretinoin 5.6816723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.7116116481 16283617
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.6316646077
MESH:D012878 Skin Neoplasms Tretinoin 2.7916467112
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.5417007042
MESH:D013274 Stomach Neoplasms Tretinoin 2.5417261132
MESH:D013964 Thyroid Neoplasms arsenic trioxide 8.5019014326
MESH:D013964 Thyroid Neoplasms Tretinoin 8.5017045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.2916051514
MESH:D016171 Torsades de Pointes arsenic trioxide 4.8515213294
MESH:D014376 Tuberculosis Tretinoin 3.5016040207
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.6220435036 12845720 11780464 12973940
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.1816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.6816752155
MESH:D014820 Vitiligo Tretinoin 4.7316761959
MESH:D009396 Wilms Tumor Tretinoin 4.4416287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27240
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank 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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