AutismKB 2.0

Annotation Detail for PHF5A


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Basic Information Top
Gene Symbol:PHF5A ( INI,MGC1346,Rds3,SAP14b,SF3b14b,bK223H9.2 )
Gene Full Name: PHD finger protein 5A
Band: 22q13.2
Quick LinksEntrez ID:84844; OMIM: NA; Uniprot ID:PHF5A_HUMAN; ENSEMBL ID: ENSG00000100410; HGNC ID: 18000
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PHF5A mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PHF5A mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of PHF5A mRNAincreases expression 19774075
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of PHF5A mRNAaffects expression 17331233
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 increased expression of PHF5A mRNAincreases expression 20018196
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PHF5A mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PHF5A mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHF5A mRNAaffects cotreatment|increases expression 17942748
D005419 Flavonoids Flavonoids results in increased expression of PHF5A mRNAincreases expression 18035473
D013629 Tamoxifen Tamoxifen affects the expression of PHF5A mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHF5A mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PHF5A mRNAincreases expression 17942748
D014303 Trinitrotoluene Trinitrotoluene affects the expression of PHF5A mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.3715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 9.377525203
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9618218290 20041841 18057881
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.0318651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.6219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.6212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9419189212 19115204 17242785 19244106 16873071 15668708 19059307 20135344 19289846 19011961 19410462 18855134 19288272 15565566 17893378 20544844 21138602 19155303 19189210 11161223 20859285 16202921 20390343 18351453 19200415 18629630 16818667 19142967 18815881 19103187 17049068 18997820 18821012 19487384 18425577 19084267 19221464 17440819 20065188 18984771 21152245 20005174 19066611 17261762 16273361
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.653084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18850075 18670907
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9415710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3218974383
MESH:D002386 Cataract Acetaminophen 7.8210977129
MESH:D002386 Cataract Trinitrotoluene 7.8214694615 15817613
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0015861022 17333356 16105132 17681005 17110522 16919318 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1615340226 8697196 12621046 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.7917141729 14669216
MESH:D000013 Congenital Abnormalities Trinitrotoluene 9.7915095906
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.9618551238
MESH:D003490 Cyanosis Trinitrotoluene 11.9618551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5217562736 19739265 12705907 15619225 11461765 17906064 11834606 10774834 16485898 2444490 19085960 19420014 19164858 19923254 16393943 12153990 16177239 18713872 18071297 14550746 15968718 11743745 16109766 11739529 16081117 12392966 14725611 11529661 17522070 10915739 12958197 11287661 19416960 12540782 14986274 10663392 19370779 16227642 12594235 11421492 16781746
MESH:D056486 Drug-Induced Liver Injury Amiodarone 12.5215265979 18218290
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5220420201
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 12.5221346803 18551238
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1520544844 17893378 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Amiodarone 14.1714986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.1715345470
MESH:D005234 Fatty Liver Tamoxifen 14.1719224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Amiodarone 15.8915265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.8915340226 16120746 12621046
MESH:D006529 Hepatomegaly Trinitrotoluene 15.8915817613
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.048137927 9751232
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 4.7317991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.2617937319
MESH:D007248 Infertility, Male Trinitrotoluene 7.2612150543
MESH:D007249 Inflammation Flavonoids 8.7917296493
MESH:D007249 Inflammation Tamoxifen 8.7919457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.7912200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 7.8718625569
MESH:D008064 Lipidoses Amiodarone 8.3217567588 15342952
MESH:D008064 Lipidoses Tamoxifen 8.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3318564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3312878042
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 11587558 16611625 12587719 19014921 16610002 12969438 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.727678174
MESH:D008113 Liver Neoplasms Tamoxifen 7.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7216984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.072876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7111989578 17391786 15350150
MESH:D008171 Lung Diseases Amiodarone 3.4812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.7418516814
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2417365036
MESH:D008175 Lung Neoplasms Tamoxifen 2.2918625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2919555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7314580682 16827153 19196722 19196723 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2416966607 16166281 18303189
MESH:D009181 Mycoses Amiodarone 5.1712754197 17974566
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.497678174 18551238
MESH:D009336 Necrosis Trinitrotoluene 11.4918551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.7616049721
MESH:D009784 Occupational Diseases Trinitrotoluene 9.7614694615 12819281 17852074
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.1110923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 6.0811597910 12490602 12832656
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 6.0817322281 17365031 17975199 15814490
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5818551238
MESH:D012640 Seizures Trinitrotoluene 6.5818551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3218724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D013163 Splenomegaly Trinitrotoluene 5.4215817613
MESH:D013276 Stomach Ulcer Amiodarone 3.4818087811
MESH:D013610 Tachycardia Amiodarone 4.4911238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3919225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Amiodarone 12.9519731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.9512697716
MESH:D013971 Thyrotoxicosis Amiodarone 5.0819584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.4317467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2316049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.238653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5610091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
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Simple Query:


  (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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