AutismKB

Evidence Detail for GUCY2D


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Basic Information Top
Gene Symbol:GUCY2D ( CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC )
Gene Full Name: guanylate cyclase 2D, membrane (retina-specific)
Band: 17p13.1
Quick LinksEntrez ID:3000; OMIM: 600179; Uniprot ID:GUC2D_HUMAN; ENSEMBL ID: ENSG00000132518
Sequences Top
>GUCY2D|3000|nucleotide
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>GUCY2D|3000|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMLeber congenital amaurosis 1 (204000)
DescriptionLeber congenital amaurosis
Reference(s)20683928;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000082 17p13.1 17 D17S513 1.13 - - Lamb, 2005

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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
  • Click to Download Data

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