AutismKB 2.0

Annotation Detail for DEFA5


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Basic Information Top
Gene Symbol:DEFA5 ( DEF5,HD-5,MGC129728 )
Gene Full Name: defensin, alpha 5, Paneth cell-specific
Band: 8p23.1
Quick LinksEntrez ID:1670; OMIM: 600472; Uniprot ID:DEF5_HUMAN; ENSEMBL ID: ENSG00000164816; HGNC ID: 2764
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of DEFA5 mRNAdecreases expression 18648102
C006253 pirinixic acid pirinixic acid results in decreased expression of DEFA5 mRNAdecreases expression 17426115
D014302 Trinitrobenzenesulfonic Acid Trinitrobenzenesulfonic Acid results in increased expression of DEFA5 mRNAincreases expression 17982090
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.8911289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.9419486331 9022650
MESH:D002779 Cholestasis pirinixic acid 8.9419176532
MESH:D003092 Colitis Trinitrobenzenesulfonic Acid 5.2018023891 16782535 16867261 16474422 17936198 17991707 16804969 11698051 18200517
MESH:D003093 Colitis, Ulcerative Trinitrobenzenesulfonic Acid 3.5517276891
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4418759878 8156756 11906362 11298694 8970840 14531868 2524372 12868966
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.023621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.056679447 9328219 8291058 18289764 7440962 18692083 1440618 18648102 9653073 6482804 9022650 11289319 16192314
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D005355 Fibrosis Trinitrobenzenesulfonic Acid 5.0017994277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006529 Hepatomegaly pirinixic acid 3.6419176532 18467677 16221962 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D015212 Inflammatory Bowel Diseases marker/mechanism 18394979
MESH:D015212 Inflammatory Bowel Diseases Trinitrobenzenesulfonic Acid 3.7118200517
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007410 Intestinal Diseases Trinitrobenzenesulfonic Acid 5.2617994277
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4415034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9420007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.78598648 3712494 1399818 6587162
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.876482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D010195 Pancreatitis Trinitrobenzenesulfonic Acid 4.7317698068
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.226587162 6582329 7505956 3712494 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
No data
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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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