AutismKB 2.0

Annotation Detail for C9orf82


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Basic Information Top
Gene Symbol:C9orf82 ( FLJ13657,RP11-337A23.1 )
Gene Full Name: chromosome 9 open reading frame 82
Band: 9p21.2
Quick LinksEntrez ID:79886; OMIM: NA; Uniprot ID:CI082_HUMAN; ENSEMBL ID: ENSG00000120159; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D014810 Vitamin E Vitamin E results in decreased expression of C9ORF82 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.8416050911
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:C538011 Eales disease Vitamin E 6.129068938
MESH:D006330 Heart Defects, Congenital Vitamin E 3.2216080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8416490937 16863852
MESH:D019584 Hot Flashes Vitamin E 5.3914716179
MESH:D007251 Influenza, Human Vitamin E 5.6316624496
MESH:D007674 Kidney Diseases Vitamin E 3.0712488133
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.5216863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2315084515
MESH:D012871 Skin Diseases Vitamin E 2.5418709164
MESH:D020521 Stroke Vitamin E 3.9716517955
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