AutismKB 2.0

Annotation Detail for PDZD2


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Basic Information Top
Gene Symbol:PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 )
Gene Full Name: PDZ domain containing 2
Band: 5p13.3
Quick LinksEntrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of PDZD2 mRNAdecreases expression 19933214
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PDZD2 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PDZD2 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in decreased expression of PDZD2 mRNAdecreases expression 15761015
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 PDZD2 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of PDZD2 mRNAdecreases expression 15336504
D002117 Calcitriol Calcitriol results in increased expression of PDZD2 mRNAincreases expression 16002434
D004958 Estradiol [Progesterone co-treated with Estradiol] results in increased expression of PDZD2 mRNAaffects cotreatment|increases expression 17404688
D005419 Flavonoids Flavonoids results in increased expression of PDZD2 mRNAincreases expression 18035473
D011374 Progesterone [Progesterone co-treated with Estradiol] results in increased expression of PDZD2 mRNAaffects cotreatment|increases expression 17404688
D011374 Progesterone Progesterone results in increased expression of PDZD2 mRNAincreases expression 17404688
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PDZD2 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0414514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000230 Adenocarcinoma arsenic trioxide 4.5011798837 19825857
MESH:D000230 Adenocarcinoma Estradiol 4.5011473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.4316206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5617868700
MESH:D001930 Brain Injuries Progesterone 4.4315665606 15845082 15380490
MESH:D001943 Breast Neoplasms Calcitriol 1.9711237771
MESH:D001943 Breast Neoplasms Estradiol 1.9712948864 17261762 17018787 19861407 18497071 16675129 14630087 17289903
MESH:D001943 Breast Neoplasms Progesterone 1.9716175315 15562024 17614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4811589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7016705839
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.7014691202 15553829 16217749 15073043 11135700
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.7016924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2512490120
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6611237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.736135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.7320889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.7318566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515668235 8697196 16354765 15340226 12621046
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3512609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5110525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5110048152 15322242 20055451
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2415213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6717187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.8218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 9.8515138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.8517692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0719148513 18566989 11473722
MESH:D004715 Endometriosis Progesterone 9.3716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5712903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver arsenic trioxide 3.4315073043
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4216904648
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4011294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 18606429 8697196 16354765 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518850075 18670907
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5815869954
MESH:D007249 Inflammation Flavonoids 8.7417296493
MESH:D007249 Inflammation Progesterone 8.7415869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.7412200463 12878042
MESH:D007333 Insulin Resistance Estradiol 3.0516627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Estradiol 2.6615618244
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.7616705839
MESH:D007680 Kidney Neoplasms Estradiol 7.7615610895
MESH:D007938 Leukemia arsenic trioxide 2.8915070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9317077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1616467208 17050201 19850784 20471514 16968895
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.309834237 12679006 15213294 17649720 16112521 11161223 19075265 19225113 17107899 17217047 15336539 17869043 17712046 16330433 19642359 15622746 16331271 16966277 12712474 16823087 19035177 15748426 12018890 16891316 11468182
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5116882451
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3014716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3012878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.687678174
MESH:D008113 Liver Neoplasms arsenic trioxide 7.6814682389
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.292876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.2920377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.2912151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4615213294
MESH:D008175 Lung Neoplasms arsenic trioxide 2.3319825857 11798837
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3311884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3516891317 11408345 17203775 11807958
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.3511408345 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.7019453300
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2019549372 14977855 19417148 11468182 15949261
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2216882451 16105982
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3916810080
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.057678174 18551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1216624393
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009421 Nervous System Malformations Estradiol 10.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0114600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2010525206
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5616049721
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.1316624393 12452020 19769630
MESH:D010051 Ovarian Neoplasms Estradiol 8.1319401270
MESH:D010051 Ovarian Neoplasms Progesterone 8.1316525653 17393432
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5715580305
MESH:D010235 Paraganglioma arsenic trioxide 4.3119927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811118676 11399792 11896295 11222880
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.9715572423
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5719131511
MESH:D011471 Prostatic Neoplasms Calcitriol 2.5716644109 16289102 15754350 12479363 18247401
MESH:D011471 Prostatic Neoplasms Estradiol 2.5716740699
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9018045962
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1216646077
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6218551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.798532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7916192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.4715862959 16503802
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1919014326
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1515213294
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2516049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2512973940 20435036 11780464 12845720
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
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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