AutismKB 2.0

Annotation Detail for PLEKHG4


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Basic Information Top
Gene Symbol:PLEKHG4 ( ARHGEF44,DKFZp434I216,PRTPHN1,SCA4 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Band: 16q22.1
Quick LinksEntrez ID:25894; OMIM: 609526; Uniprot ID:PKHG4_HUMAN; ENSEMBL ID: ENSG00000196155; HGNC ID: 24501
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2055Spinocerebellar ataxias
No data
No data
Desease Name
Spinocerebellar ataxia-4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of PLEKHG4 mRNAincreases expression 19774075
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PLEKHG4 mRNAaffects binding|decreases expression|increases activity 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:D001145 Arrhythmias, Cardiac Amiodarone 4.3120041841 18057881 18218290
MESH:D001281 Atrial Fibrillation Amiodarone 4.2718651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.9719483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.9719483382
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0219225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.9718974383
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4915265979 18218290
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver Amiodarone 9.6914986274
MESH:D005234 Fatty Liver pirinixic acid 9.6919236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly Amiodarone 11.2615265979
MESH:D006529 Hepatomegaly pirinixic acid 11.2619772884 16221962 18467677 19176532
MESH:D006937 Hypercholesterolemia Amiodarone 4.428137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007037 Hypothyroidism Amiodarone 5.2818020914 17991464
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008064 Lipidoses Amiodarone 3.8517567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9515890375 20007298 16377806
MESH:D008133 Long QT Syndrome Amiodarone 3.9617391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.5518516814
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009181 Mycoses Amiodarone 5.9712754197 17974566
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9911597910 12832656 12490602
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.9718724381
MESH:D020754 Spinocerebellar Ataxias marker/mechanism
MESH:D013276 Stomach Ulcer Amiodarone 3.8618087811
MESH:D013610 Tachycardia Amiodarone 4.9611238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.8619225199
MESH:D013959 Thyroid Diseases Amiodarone 5.8319731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.6218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 5.0811989578 17467628
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