AutismKB 2.0

Annotation Detail for PHF17


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Basic Information Top
Gene Symbol:PHF17 ( FLJ22479,JADE1,KIAA1807 )
Gene Full Name: PHD finger protein 17
Band: 4q26-q27
Quick LinksEntrez ID:79960; OMIM: 610514; Uniprot ID:JADE1_HUMAN; ENSEMBL ID: ENSG00000077684; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1766Renal Cell cancer
1913Von Hippel-Lindau syndrome
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PHF17 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PHF17 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PHF17 mRNAdecreases expression 20064835
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 PHF17 mRNAdecreases expression 19150397
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PHF17 mRNAaffects expression 17484886
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PHF17 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PHF17 mRNAdecreases expression 19933214
D014635 Valproic Acid Valproic Acid results in decreased expression of PHF17 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.4615322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.468875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3520127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3514692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.023712494
MESH:D000236 Adenoma Benzo(a)pyrene 7.026695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8619460635 18396377 19232924 18558336 16609825 17507914 18775368 18940202 17688650 15238991 17157402 18985861 18316065 20603192 18177632
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4011289319 1440618
MESH:D001714 Bipolar Disorder Valproic Acid 3.1820046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.5015746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.508888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8720146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.083786805 16050911 16097048 15721981 16124888 16192424 10355542 15700767 16011737 16227642 18705752 15673190
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.693581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.693084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.6918788625
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.187505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1820889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.4519486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 8.4516919318 11677210 16105132 15861022 17681005 17110522 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5315322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.538888407 17688650 16575769
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1011906362 8970840 14531868 12868966 8156756 11298694 2524372 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.752952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.679022650 18289764 6482804 18692083 18648102 8291058 11289319 9653073 1440618 9328219 16192314 7440962 6679447
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.6712540782 19416960 12594235 11743745 12392966 11834606 11421492 14986274 11529661 19739265 19370779 16227642 17522070 11287661 16393943 10915739 10663392 16781746 19923254 18071297 2444490 18713872 15619225 14725611 16485898 12958197 14550746 16109766 17562736 11739529 10774834 11461765 12153990 16177239 19420014 19085960 15968718 17906064 19164858 16081117 12705907
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.673732212 7440962 6623471 17522070 15998439 16227642 7179309 9327722 19336974 11566570 21278145 10915739 6884620 2869522 7120509 15968718 15027814 16177239 10092053 4309450 3786805 19085960
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.6720420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.671733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004421 Dystonia Valproic Acid 4.311851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.463659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.2916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0418234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.807562514 6426943 6254150
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 7.493581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4920426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.5716239168 61145 15959796 17595544 19224547 12795759 12631006 16045604
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.5715345470
MESH:D005234 Fatty Liver Valproic Acid 14.5714986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
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 Carbon Tetrachloride 9.6418705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6420067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8210048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 10.186705139
MESH:D006505 Hepatitis Carbon Tetrachloride 10.1819900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2016120746 15340226 12621046
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 18606429 15340226 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.408074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3212587719 15629191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.176582329
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1817596541 16294345
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9211408273 11903743 17334410 17157831 17174718 16221502 16943688 16239168 21278145
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3315034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3418317297 18472094 12445421 12445418 18187930 15370692 16192424 18251166 12632512 17823541 12667390 12898905 17631135 18376398 15362042 15925388 18205269 17976157 17900296 12632514 17565644 14620537 12609069 15818738 18395095 15052691 18418968 14716496 12546737 17714472 15338365 18263696 14716833 12649538 16027843 16011737 18420326 18472332 15876570 16116963 18429990 17922224 10355542 15650968 17525996 15959796 17766677 15893842 18210741 18006644 20821823 12666154 16248980 12389079 11481614 16136751 16097048 14512876 18395914 17557913 15730626 17481882 12586293 14748882 18412020 17698563 18339082 16638106 12741479 18054572 18279442 18277467 16033810 17761835 15673190 15931870 13678700 16015684 14724832 17708605 18156304 17869086 17721639 18705752 15057751 12958196 18166357 17640975 15996030 18481824 17805973 17944888 15123356
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Acetaminophen 4.0712969438 16611625 12587719 11587558 16610002 19014921 19460945 19784758
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0716246199 17285989 15720792 16964402 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.1817185352 16871587
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.1816899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.8221137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.8219294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.611399818 598648 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.6112014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.6112151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2418569708 18520028 18816296 20064080 20464547 6695378 17053015 20135361 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3618765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2817596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.756679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.7516359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.656482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6111399792 11896295 11222880 11118676
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.6120603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 4.9211422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4419155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8915475178 14763951 11738929 11044598 17978042 3137016 16876388 1511512
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.063712494 6587162 7505956 6582329 1399818
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.248074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
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  (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


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