AutismKB 2.0

Annotation Detail for PTCD1


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Basic Information Top
Gene Symbol:PTCD1 ( KIAA0632 )
Gene Full Name: pentatricopeptide repeat domain 1
Band: 7q22.1
Quick LinksEntrez ID:26024; OMIM: NA; Uniprot ID:PTCD1_HUMAN; ENSEMBL ID: ENSG00000106246; HGNC ID: 22198
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PTCD1 mRNAaffects expression 21346803
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PTCD1 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7916705839
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.7818551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 2.0621346803 18551238
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver pirinixic acid 3.3120131406 19236843
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7619176532 18467677 19772884 16221962
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.4116705839
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 15890375 16377806
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.7418551238
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.9312819281 16049721
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.8518551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4316049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 5.2010091137
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