AutismKB 2.0

Annotation Detail for PTCD3


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Basic Information Top
Gene Symbol:PTCD3 ( DKFZp666K071,FLJ20758 )
Gene Full Name: Pentatricopeptide repeat domain 3
Band: 2p11.2
Quick LinksEntrez ID:55037; OMIM: NA; Uniprot ID:PTCD3_HUMAN; ENSEMBL ID: ENSG00000132300; HGNC ID: 24717
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
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 PTCD3 mRNAdecreases expression 19150397
C006780 bisphenol A bisphenol A results in decreased expression of PTCD3 mRNAdecreases expression 20678512
D004317 Doxorubicin PTCD3 protein affects the susceptibility to Doxorubicinaffects response to substance 16217747
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PTCD3 mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 15322242 11752688
MESH:D000230 Adenocarcinoma Doxorubicin 2.6417418594
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000419 Albuminuria Doxorubicin 5.0521441931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.4214601052
MESH:D001862 Bone Resorption bisphenol A 4.2911985600
MESH:D001932 Brain Neoplasms Doxorubicin 4.2017150277
MESH:D001943 Breast Neoplasms bisphenol A 1.9117123778
MESH:D001943 Breast Neoplasms Doxorubicin 1.9116595493 15939500 18628466 19526202 18234424 17426702 16096432 16264153 15692762 15567936 15634643 16935488 16115903 18382427 15668708 18695136 17983394 15136595 17369602 16322301 15994142 15993339 11325840 16826403
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9120435547
MESH:D002276 Carcinoid Tumor Doxorubicin 5.5316051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 2.2618059187 16234567 16023760 17876044
MESH:D002278 Carcinoma in Situ bisphenol A 5.6217123778
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.3116201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.726189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 16120746 18670907
MESH:D009202 Cardiomyopathies Doxorubicin 3.7716269455 16242529 16651473 16455267 16952015 17519947 15505089 17924179 16109756 16612575 16731534 17974986 15792986 16364871 15811867 17007740 17308081 17382496 17131338 17329180 17928571 16278810 18627295 15476868 17351982
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0516243910 17334414
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.248697196 16354765 15340226 15668235 12621046
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1518802399 18259882
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 4.1817416283
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.1820420201
MESH:D004362 Drug Toxicity Doxorubicin 9.1018602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 9.1011462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6216714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.6917359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.8818037988
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.2219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005909 Glioblastoma Doxorubicin 3.5917150277
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.7815692506
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006331 Heart Diseases Doxorubicin 3.7516244371 14766674 17888722 16879835 16330681 17875725 12587719 16244372 16707910 18006777 16144979 16495754 18674790
MESH:D006333 Heart Failure Doxorubicin 3.5617481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.3315692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D006689 Hodgkin Disease Doxorubicin 3.7717606976 18501091 15147373
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716354765 15340226 16959395 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 3.5316393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007674 Kidney Diseases Doxorubicin 3.2515369732 15699352 16775033
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.5816707910
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.8816085563
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.5216439617 16595196
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5212878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 6.6716842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.6712151625
MESH:D008175 Lung Neoplasms Doxorubicin 2.496189445 17418594
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4919555203 11884234
MESH:D008223 Lymphoma Doxorubicin 3.7316098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.1317654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.1315621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2615458769
MESH:D008545 Melanoma Doxorubicin 2.3316827129
MESH:D008654 Mesothelioma Doxorubicin 3.1817638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.9315792986
MESH:D052016 Mucositis Doxorubicin 5.4217415656
MESH:D009203 Myocardial Infarction Doxorubicin 3.0819429709 15857846
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0818259882
MESH:D009401 Nephrosis Doxorubicin 5.3316899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.3716889571 15640375
MESH:D009421 Nervous System Malformations bisphenol A 11.3211399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.3214600291
MESH:D009447 Neuroblastoma Doxorubicin 3.4315555623
MESH:D012516 Osteosarcoma Doxorubicin 4.4415930896
MESH:D010049 Ovarian Diseases bisphenol A 5.6211985600
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D003557 Phyllodes Tumor Doxorubicin 5.8817983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.8817638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 11.7010548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.7011399792 11118676 11222880 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.6320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3616740699
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.3616868541 15897917 18437689 15749863 16729912 16888761
MESH:D011629 Puberty, Precocious bisphenol A 5.4210548101
MESH:D051437 Renal Insufficiency Doxorubicin 4.7817922066
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012509 Sarcoma Doxorubicin 4.3815625365 16767912 15675481 17710206 18313854 17203757
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.7514601052 16326096
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.4217846226
MESH:D012878 Skin Neoplasms Doxorubicin 6.2215692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.2216192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.1315625365 16767912 17203757
MESH:D019966 Substance-Related Disorders bisphenol A 4.6116684133 16045194
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.6716010429 17909728
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 2.8817653716
MESH:D014591 Uterine Diseases bisphenol A 5.7314652134
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.7817638931 16364871 17678736 17334414
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
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