AutismKB 2.0

Annotation Detail for FRMD3


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Basic Information Top
Gene Symbol:FRMD3 ( 4.1O,EPB41L4O,EPB41LO,MGC20553,P410 )
Gene Full Name: FERM domain containing 3
Band: 9q21.32
Quick LinksEntrez ID:257019; OMIM: 607619; Uniprot ID:FRMD3_HUMAN; ENSEMBL ID: ENSG00000172159; HGNC ID: 24125
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of FRMD3 mRNAincreases expression 19774075
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of FRMD3 mRNAdecreases expression 20106945
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 FRMD3 mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in decreased expression of FRMD3 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of FRMD3 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1518057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.1619698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.3519483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.3519483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9919225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.6218974383
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3520889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3512371664
MESH:D054506 Chloracne marker/mechanism 17101203
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4618218290 15265979
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5920426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5916530937
MESH:D005234 Fatty Liver Amiodarone 15.3614986274
MESH:D005234 Fatty Liver Cyclosporine 15.3619224547
MESH:D005234 Fatty Liver pirinixic acid 15.3619236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8220471113
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly Amiodarone 10.2415265979
MESH:D006529 Hepatomegaly pirinixic acid 10.2419176532 16221962 18467677 19772884
MESH:D006937 Hypercholesterolemia Amiodarone 4.259751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007037 Hypothyroidism Amiodarone 5.0018020914 17991464
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5218776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008064 Lipidoses Amiodarone 3.7617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7321137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 4.7315890375 20007298 16377806
MESH:D008133 Long QT Syndrome Amiodarone 3.8517391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0918516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718569708 6695378 18816296 20135361 20464547 18520028 20064080 20869020 17053015
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009181 Mycoses Amiodarone 5.5117974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3311141357
MESH:D009369 Neoplasms pirinixic acid 5.3317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9612832656 12490602 11597910
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.6218724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5119755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer Amiodarone 3.6818087811
MESH:D013610 Tachycardia Amiodarone 4.7311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.6319225199
MESH:D013959 Thyroid Diseases Amiodarone 5.3719731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.3418020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.7317467628 11989578
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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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