AutismKB 2.0

Annotation Detail for GJD4


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Basic Information Top
Gene Symbol:GJD4 ( CX40.1,FLJ90023,RP11-425A6.2 )
Gene Full Name: gap junction protein, delta 4, 40.1kDa
Band: 10p11.21
Quick LinksEntrez ID:219770; OMIM: 611922; Uniprot ID:CXD4_HUMAN; ENSEMBL ID: ENSG00000177291; HGNC ID: 23296
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Membrane Trafficking
No data
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No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GJD4 mRNAaffects expression 16483693
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of GJD4 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of GJD4 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818177632 18316065 18775368 17507914 18396377 15238991 17157402 20603192 19460635 18558336 19232924 18985861 18940202 17688650 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2617594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 8888407 17688650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.8117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.783922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1220417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 4.006254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D005234 Fatty Liver Valproic Acid 3.7819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.718888407 18558336
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.2816612254
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5018765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.3916359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.4111422049 12752131
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0216876388 1511512 11738929 15475178 17978042 3137016 11044598 14763951
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
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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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