Evidence Detail for NDUFA4

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Basic Information Top
Gene Symbol:NDUFA4 ( CI-9k,CI-MLRQ,FLJ27440,MGC104422,MGC126843,MGC126845,MLRQ )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
Band: 7p21.3
Quick LinksEntrez ID:4697; OMIM: 603833; Uniprot ID:NDUA4_HUMAN; ENSEMBL ID: ENSG00000189043
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) No 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
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
Hussman, 2011_1 Discovery 1 (detail) 597 -
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Kuwano, 2011_2 Japan Mother with ASD children 21
---- 21
-2.02 Down 0.00277
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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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