AutismKB 2.0

Annotation Detail for KCNH8


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Basic Information Top
Gene Symbol:KCNH8 ( ELK,ELK1,Kv12.1,elk3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 8
Band: 3p24.3
Quick LinksEntrez ID:131096; OMIM: 608260; Uniprot ID:KCNH8_HUMAN; ENSEMBL ID: ENSG00000183960; HGNC ID: 18864
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
METABOLIC
hip geometry
Desease Name
Hip geometry
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNH8 mRNAaffects expression 16483693
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.6518287403
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