Evidence Detail for DMD

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Basic Information Top
Gene Symbol:DMD ( BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272 )
Gene Full Name: dystrophin
Band: Xp21.2
Quick LinksEntrez ID:1756; OMIM: 300377; Uniprot ID:DMD_HUMAN; ENSEMBL ID: ENSG00000198947
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 2 (2) 0 (0) 1 (5) 0 (0) 0 (0) 0 (0) 14 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMDuchenne muscular dystrophy (310200)
DescriptionMuscular dystrophy, Duchenne and Becker types; in one study, 19% (16/85) met criteria for ASD
Reference(s)20358624; 18354150; 19818935; 6746506; 11725514; 16417872; 18056690; 12757359; 6746506;
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
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
(% Women)
ADI-R ADOS Diagnosis Age
Wang, 2009_1 Discovery 1 (detail) 780 1299
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Wang, 2009_2 Discovery 1 (detail) 1204
ASD 10.3±6.6
10.9±6.7 6491
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000711 X Xp21.1 gain 2 1 Overlapping/Recurrent CNVs; Pagnamenta, 2011
AutCNV0000802 X Xp21.1 gain 1 - maternal Pinto, 2010
AutCNV0000962 X Xp21.1 gain 1 - maternal Pinto, 2010
AutCNV0003446 X Xp21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004428 X Xp21.1 gain - - CNVs Only Present In Patients; Nord, 2011
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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