AutismKB 2.0

Annotation Detail for REG1A


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Basic Information Top
Gene Symbol:REG1A ( ICRF,MGC12447,P19,PSP,PSPS,PSPS1,PTP,REG )
Gene Full Name: regenerating islet-derived 1 alpha
Band: 2p12
Quick LinksEntrez ID:5967; OMIM: 167770; Uniprot ID:REG1A_HUMAN; ENSEMBL ID: ENSG00000115386; HGNC ID: 9951
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
1847Alimentary system disease
1730Disseminated cancer
1943Adenocarcinoma
2148Stomach disease
2164Barrett's esophagus
Desease Name
IMMUNE
diabetes, type 2
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of REG1A mRNAaffects expression 16483693
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in decreased expression of REG1A mRNAaffects cotreatment|decreases expression 17183730
C025462 sulindac sulfide sulindac sulfide results in decreased expression of REG1A mRNAdecreases expression 16184548
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in decreased expression of REG1A mRNAaffects cotreatment|decreases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D000544 Alzheimer Disease sulindac sulfide 3.1518759972
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9819460635 15238991 17157402 18558336 18316065 16609825 18396377 17507914 17688650 18940202 19232924 20603192 18985861 18775368 18177632
MESH:D001714 Bipolar Disorder Valproic Acid 3.2417594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D002289 Carcinoma, Non-Small-Cell Lung sulindac sulfide 3.5512391285
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 17688650 8888407
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2519641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.643922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.967562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D005234 Fatty Liver Valproic Acid 3.7219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.648888407 18558336
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.3716359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9915475178 14763951 3137016 1511512 11738929 17978042 16876388 11044598
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
MESH:D014594 Uterine Neoplasms sulindac sulfide 5.1618645019
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB03721 - O-Sialic Acid
DB04522 - Phosphonoserine
No data
No data
No data

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  (e.g. CHD8)

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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