AutismKB 2.0

Annotation Detail for CKMT1A


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Basic Information Top
Gene Symbol:CKMT1A ( CKMT1,CKMT1B,FLJ50967,UMTCK )
Gene Full Name: creatine kinase, mitochondrial 1A
Band: 15q15.3
Quick LinksEntrez ID:548596; OMIM: 613415; Uniprot ID:KCRU_HUMAN; ENSEMBL ID: ENSG00000223572; HGNC ID: 31736
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00330Arginine and proline metabolism
hsa01100Metabolic pathways
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
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Pathway ID Pathway Name
KEGG:00330 Arginine and proline metabolism
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00148 ligand Creatine Dietary supplement;Micronutrient
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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