Evidence Detail for DMPK

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Basic Information Top
Gene Full Name: dystrophia myotonica-protein kinase
Band: 19q13.3
Quick LinksEntrez ID:1760; OMIM: 605377; Uniprot ID:DMPK_HUMAN; ENSEMBL ID: ENSG00000104936
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMMyotonic dystrophy 1 (160900)
DescriptionMyotonic dystrophy 1 (Steinert disease). In a study of 57 children and adolescents with myotonic dystrophy 1, 49% had ASD (including 35% with autism). Several individuals with Asperger syndrome have been reported
Reference(s)8810716; 18228241; 9183272; 2789860;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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