AutismKB 2.0

Annotation Detail for PLEKHF1


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Basic Information Top
Gene Symbol:PLEKHF1 ( APPD,MGC4090,PHAFIN1,ZFYVE15 )
Gene Full Name: pleckstrin homology domain containing, family F (with FYVE domain) member 1
Band: 19q12
Quick LinksEntrez ID:79156; OMIM: NA; Uniprot ID:PKHF1_HUMAN; ENSEMBL ID: ENSG00000166289; HGNC ID: 20764
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
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PLEKHF1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PLEKHF1 mRNAaffects expression 17562736
D001151 Arsenic Arsenic affects the expression of PLEKHF1 mRNAaffects expression 18414638
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of PLEKHF1 mRNAincreases expression 20106945
C014347 decitabine decitabine affects the expression of PLEKHF1 mRNAaffects expression 17145863
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PLEKHF1 mRNAaffects binding|increases activity|increases expression 19710929
D013467 Sulindac Sulindac results in increased expression of PLEKHF1 mRNAincreases expression 11906190
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PLEKHF1 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 5.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1814514962 11752688 15322242
MESH:D058186 Acute Kidney Injury Sulindac 4.567897758
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.8220127859 20464547
MESH:D000230 Adenocarcinoma Sulindac 4.8211910360
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 12.013712494
MESH:D000236 Adenoma Benzo(a)pyrene 12.016695378
MESH:D000236 Adenoma Sulindac 12.0110223192
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D011125 Adenomatous Polyposis Coli Sulindac 4.8317611924 11874996 19003578 12394442 15623613 11535846 16460482
MESH:D018246 Adrenocortical Adenoma Arsenic 5.5917306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D020261 Arsenic Poisoning Arsenic 2.9218414634 12569548 16251483 16835338
MESH:D050197 Atherosclerosis Arsenic 3.3812928151 19371607
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.401440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001913 Bowen's Disease Sulindac 5.7311207687
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0120146248 17474063
MESH:D001943 Breast Neoplasms decitabine 2.0119208741 18320071
MESH:D001943 Breast Neoplasms Sulindac 2.0116642371
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7117687452 15504454
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.767296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.763084413
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.7617306315 16507464
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002294 Carcinoma, Squamous Cell Arsenic 7.9417687452 18922899 15504454
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.9420419170
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.9419215824
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.3018640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Arsenic 3.6119152805 17938729 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.5218022660 16973168
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.917505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.439022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.4319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1912621046 15340226 16354765 8697196 15668235
MESH:D003110 Colonic Neoplasms decitabine 4.2417616700
MESH:D003110 Colonic Neoplasms Sulindac 4.2412902858 12458338
MESH:D015179 Colorectal Neoplasms decitabine 2.9318981723
MESH:D015179 Colorectal Neoplasms Sulindac 2.9310666051 18059344 11076880 11197048
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1012868966 8970840 14531868 18759878 8156756 2524372 11298694 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.753621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003930 Diabetic Retinopathy Sulindac 5.4617621415 12861449
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.4718692083 6679447 18289764 9022650 1440618 11289319 8291058 18648102 6482804 7440962 9653073 9328219 16192314
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4716485898 17522070 17906064 15619225 18071297 19923254 11739529 16781746 12153990 14725611 11529661 16109766 14550746 11461765 12540782 11834606 17562736 11421492 12705907 16081117 10663392 12594235 12392966 10915739 11743745 16227642 16393943 11287661 10774834 19739265 19420014 19164858 19370779 15968718 18713872 19085960 16177239 19416960 14986274 2444490 12958197
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 18230668 15322242
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.4919294695
MESH:D004715 Endometriosis Sulindac 9.9615652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.969294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.643581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.6416530937
MESH:D004938 Esophageal Neoplasms Sulindac 7.6412235107
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver pirinixic acid 3.0119236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D018221 Fibromatosis, Abdominal Sulindac 5.8214745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 5.4719069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005534 Foot Diseases Arsenic 5.946392382
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005764 Gastroesophageal Reflux Sulindac 5.2911910360
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6419215824
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8211294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.796705139
MESH:D006529 Hepatomegaly pirinixic acid 9.3018467677 19176532 16221962 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3015340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 15340226 18606429 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6817050553
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Arsenic 5.4911953799 16076760 9931084
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.4918850075 18670907
MESH:D006987 Hypesthesia Arsenic 5.9416093927
MESH:D007248 Infertility, Male decitabine 3.3517581917
MESH:D007249 Inflammation Sulindac 5.613291741
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.6112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007414 Intestinal Neoplasms Sulindac 4.8612628509 10223192 12584176 10213222 12663524 12351151
MESH:D007417 Intestinal Polyps Sulindac 5.2512394442 11245490
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.408074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007642 Keratosis Arsenic 5.3316930632 12749816
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.176582329
MESH:D007938 Leukemia decitabine 3.1819235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.2419117987 18454857 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4119010910 17679729 18206229 18460780 19387464 18704418
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.8418055864
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.7017339181
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 8.9715034207 9327722
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 8.9712468960
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 6.9712587719 12969438 19784758 19014921 16610002 16611625 11587558 19460945
MESH:D008107 Liver Diseases Arsenic 6.9711134558
MESH:D008107 Liver Diseases Sulindac 6.9714986274 16867024
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008113 Liver Neoplasms Arsenic 11.3416368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.3420195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 11.3420007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3416984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.20598648 6587162 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2012151625
MESH:D008175 Lung Neoplasms Arsenic 5.0817976673 17306315 19168569
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0820869020 17053015 20135361 18816296 18569708 18520028 6695378 20464547 20064080
MESH:D008175 Lung Neoplasms Sulindac 5.0815713900 19359593
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0819555203 11884234
MESH:D008223 Lymphoma decitabine 3.5819470736
MESH:D008545 Melanoma decitabine 3.8616505122 17785578
MESH:D008545 Melanoma Sulindac 3.8616642371
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009101 Multiple Myeloma decitabine 3.5118172295
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5119157545 18608210 19010910 16882708
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Arsenic 9.6515371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.6512213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Benzo(a)pyrene 8.8611141357
MESH:D009369 Neoplasms decitabine 8.8619116145 17925555 19470736
MESH:D009369 Neoplasms pirinixic acid 8.8617405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.876679447
MESH:D009436 Neural Tube Defects Arsenic 7.8716620997
MESH:D019636 Neurodegenerative Diseases Acetaminophen 9.2118514411
MESH:D019636 Neurodegenerative Diseases Sulindac 9.2116850258 17266991
MESH:D020078 Neurogenic Inflammation Arsenic 4.6417056641
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.656482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010051 Ovarian Neoplasms Arsenic 5.3217306315
MESH:D010051 Ovarian Neoplasms decitabine 5.3219259094 19331143
MESH:D010146 Pain Acetaminophen 7.5916870215
MESH:D010146 Pain Sulindac 7.593291741
MESH:D010190 Pancreatic Neoplasms decitabine 5.9519294695
MESH:D010190 Pancreatic Neoplasms Sulindac 5.9511504793 16820089
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.4616093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.336392382 16905509 15371236
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11399792 11118676 11222880
MESH:D055728 Primary Myelofibrosis decitabine 5.0317616702
MESH:D011471 Prostatic Neoplasms Arsenic 3.2516140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2517292933
MESH:D011507 Proteinuria Arsenic 4.2621343184
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012208 Rhabdomyosarcoma decitabine 4.6619155313
MESH:D012871 Skin Diseases Arsenic 2.8015952646 18709164 17548696 19834688 17938729 17050553 6392382 16702368 16759981 16353154 17453740
MESH:D012878 Skin Neoplasms Arsenic 10.0317976673 15504454 17050553 19538983 17029826 16251483
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 10.0310029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.0316192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.502093021 20155912
MESH:D013274 Stomach Neoplasms decitabine 2.5019037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.867505956 6587162 1399818 6582329 3712494
MESH:D013964 Thyroid Neoplasms decitabine 7.8617967635
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 12.638074119
MESH:D001749 Urinary Bladder Neoplasms Arsenic 12.6319322015 19429237 11144890 15987713 18640142 17306315 17976673
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 12.6317053015
MESH:D001749 Urinary Bladder Neoplasms decitabine 12.6317616700 19087683
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Sulindac 4.8818645019
MESH:D014604 Uveal Neoplasms decitabine 5.2917785578
MESH:D014652 Vascular Diseases Arsenic 5.0717056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
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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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