AutismKB 2.0

Annotation Detail for PDE6A


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Basic Information Top
Gene Symbol:PDE6A ( CGPR-A,PDEA,RP43 )
Gene Full Name: phosphodiesterase 6A, cGMP-specific, rod, alpha
Band: 5q32
Quick LinksEntrez ID:5145; OMIM: 180071; Uniprot ID:PDE6A_HUMAN; ENSEMBL ID: ENSG00000132915; HGNC ID: 8785
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00230Purine metabolism
hsa04744Phototransduction
Pathway IDPathway Name
Hemostasis
Pathway IDPathway Name
200139Visual signal transduction: Rods
Pathway IDPathway Name
P00028Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Retinitis pigmentosa-43
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D012174 Retinitis Pigmentosa marker/mechanism
Pathway ID Pathway Name
REACT:604 Hemostasis
KEGG:04744 Phototransduction
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33133
    • No data
    Releated disease ID Related disease Name
    PA447321Depressive Disorder, Major
    Releated drug ID Related drug Name
    PA450191lecithin
    PA449673fluoxetine
    Drug Bank Top

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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


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