AutismKB 2.0

Annotation Detail for ANO5


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Basic Information Top
Gene Symbol:ANO5 ( GDD1,LGMD2L,TMEM16E )
Gene Full Name: anoctamin 5
Band: 11p14.3
Quick LinksEntrez ID:203859; OMIM: 608662; Uniprot ID:ANO5_HUMAN; ENSEMBL ID: ENSG00000171714; HGNC ID: 27337
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Muscular dystrophy, limb-girdle, type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D014635 Valproic Acid Valproic Acid results in increased expression of ANO5 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.578875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.5619490988
MESH:D000550 Amblyopia Valproic Acid 6.6517688650
MESH:D001008 Anxiety Disorders Valproic Acid 4.0317497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9817157402 18316065 16609825 15238991 18775368 20603192 18177632 17507914 18940202 19232924 17688650 19460635 18985861 18558336 18396377
MESH:D001714 Bipolar Disorder Valproic Acid 3.3020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.728888407
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8520734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 8888407 17688650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2819641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.751851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 5.0617275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 5.3316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1618234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 4.117562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 5.207750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 5.153659116
MESH:D005234 Fatty Liver Valproic Acid 3.9214986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 6.3016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.928888407 18558336
OMIM:166260 GNATHODIAPHYSEAL DYSPLASIA marker/mechanism
MESH:D006849 Hydrocephalus Valproic Acid 5.9617688650
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2116294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.6817228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5718803445 18765137
OMIM:613319 MIYOSHI MUSCULAR DYSTROPHY 3 marker/mechanism
OMIM:611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L marker/mechanism
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.668888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.4217596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.4516359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.9220603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.9612752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.8719155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0816876388 17978042 3137016 11738929 1511512 15475178 11044598 14763951
MESH:D016135 Spinal Dysraphism Valproic Acid 4.2119490988
MESH:D013226 Status Epilepticus Valproic Acid 5.9612833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.6517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.613119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.558888407
No data
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Syndromic Genes

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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