AutismKB 2.0

Annotation Detail for RPH3AL


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Basic Information Top
Gene Symbol:RPH3AL ( NOC2 )
Gene Full Name: rabphilin 3A-like (without C2 domains)
Band: 17p13.3
Quick LinksEntrez ID:9501; OMIM: 604881; Uniprot ID:RPH3L_HUMAN; ENSEMBL ID: ENSG00000181031; HGNC ID: 10296
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 RPH3AL mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of RPH3AL mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RPH3AL mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of RPH3AL mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of RPH3AL mRNAdecreases expression 20106945
D004128 Dimethylnitrosamine Dimethylnitrosamine results in increased expression of RPH3AL mRNAincreases expression 17072980
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of RPH3AL mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of RPH3AL mRNAincreases expression 19619570
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of RPH3AL mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RPH3AL mRNAincreases expression 19619570
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.4520127859 20464547
MESH:D000230 Adenocarcinoma Dimethylnitrosamine 7.4516033868
MESH:D000230 Adenocarcinoma Estradiol 7.4511473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 11.983712494
MESH:D000236 Adenoma Benzo(a)pyrene 11.986695378
MESH:D000236 Adenoma Dimethylnitrosamine 11.9819555203
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4011289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7917474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 1.7917018787 16675129 14630087 12948864 17289903 18497071 19861407 17261762
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8016111702
MESH:D002277 Carcinoma Dimethylnitrosamine 9.0019555203
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 9.0016835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.683581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6816924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 5.0120419170
MESH:D002294 Carcinoma, Squamous Cell Dimethylnitrosamine 5.0116033868
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 12.097505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.0912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.0918566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.479022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.4719486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 15340226 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1011298694 8156756 18759878 11906362 8970840 2524372 12868966 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.752952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.499653073 6679447 18289764 18648102 18692083 16192314 9022650 9328219 8291058 6482804 7440962 11289319 1440618
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4914986274 10915739 12153990 11461765 2444490 11739529 16177239 11529661 19164858 16781746 10774834 19416960 11834606 18071297 12958197 17906064 15968718 11743745 10663392 19739265 11421492 14725611 19085960 16081117 14550746 11287661 16485898 16109766 16227642 12705907 17562736 17522070 19923254 19370779 16393943 15619225 12540782 12594235 19420014 12392966 18713872
MESH:D056486 Drug-Induced Liver Injury Dimethylnitrosamine 9.498172417
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 18230668 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 3.1311473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.603581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.6016530937
MESH:D004938 Esophageal Neoplasms Dimethylnitrosamine 7.6017016578
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 3.1019224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D005355 Fibrosis Cyclosporine 9.5212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5220067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
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 6.8211294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.796705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.4115709030
MESH:D019584 Hot Flashes Estradiol 4.1317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 16959395 18606429 8697196 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Cyclosporine 5.2110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612878042 12200463
MESH:D007333 Insulin Resistance Estradiol 3.1116627594 16393666
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.409022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Acetaminophen 10.7212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.7218776723 8314463 10903974
MESH:D007674 Kidney Diseases Estradiol 10.7215618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.576582329
MESH:D007680 Kidney Neoplasms Cyclosporine 13.5712371664
MESH:D007680 Kidney Neoplasms Estradiol 13.5715610895
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3315034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental marker/mechanism 17072980
MESH:D008106 Liver Cirrhosis, Experimental Dimethylnitrosamine 3.6617198567 17465448 15591649 15798949 16009107 15479170 14568256 15298665 15383259 15942678 14643895 17534399 17724770 16544323 16169303 15081153 14726149 17196135 15571005 15842777 16627068 18364076 17203207 18210741 17719030 16042886 16570917 15339415 15577212 15161499 16603200 18371158 15369754 15086199 15744066 18629640 17201889 17640959 18239293 18567088 15099470 18095165 15723089 17666798 17432682 15067225 15793283 15763062 18237412 12925901 18672772 15138612 15504291 15492853 17348192 17881167 12918455 18637143 16270385 17036385 14709902 14659978 15733078 15864749 15366600
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.6614659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6612878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719014921 12587719 19784758 16611625 19460945 11587558 12969438 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 10.4417185352 16871587
MESH:D017114 Liver Failure, Acute Dimethylnitrosamine 10.4417457977
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9221137059 20195826
MESH:D008113 Liver Neoplasms Dimethylnitrosamine 7.923113478 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.71598648 1399818 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Dimethylnitrosamine 10.711848544 6150874 15603536
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.7112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5618520028 18569708 6695378 20464547 20064080 18816296 20135361 20869020 17053015
MESH:D008175 Lung Neoplasms Dimethylnitrosamine 3.5616061637 11884234 19555203
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5619555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7011807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.8619453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4616810080
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 10.4216427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.4214600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.066679447
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:D010051 Ovarian Neoplasms Estradiol 2.2819401270
MESH:D010146 Pain Acetaminophen 2.5916870215
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:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311222880 11118676 11399792 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1320887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0517292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013158 Splenic Diseases Dimethylnitrosamine 5.6512587719
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.6420155912 2093021
MESH:D013274 Stomach Neoplasms Dimethylnitrosamine 2.6416033868
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.061399818 6587162 3712494 6582329 7505956
MESH:D013978 Tibial Fractures Estradiol 5.0619048282
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.248074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
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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