AutismKB 2.0

Annotation Detail for GNPTG


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GNPTG ( C16orf27,GNPTAG,LP2537,RJD9 )
Gene Full Name: N-acetylglucosamine-1-phosphate transferase, gamma subunit
Band: 16p13.3
Quick LinksEntrez ID:84572; OMIM: 607838; Uniprot ID:GNPTG_HUMAN; ENSEMBL ID: ENSG00000090581; HGNC ID: 23026
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00143Mucolipidosis II and III
Genetic disorders
No data
No data
No data
Desease Name
Mucolipidosis III gamma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C025643 vinclozolin vinclozolin affects the expression of GNPTG mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001008 Anxiety Disorders vinclozolin 4.1019015723
MESH:D003456 Cryptorchidism vinclozolin 5.1314966744
MESH:D030342 Genetic Diseases, Inborn vinclozolin 6.0216973722
MESH:D005832 Genital Diseases, Male vinclozolin 6.7216417039
MESH:D007248 Infertility, Male vinclozolin 3.3816467254
MESH:D007984 Leydig Cell Tumor vinclozolin 5.8216417039
OMIM:252605 MUCOLIPIDOSIS III GAMMA marker/mechanism
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.9818220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 6.0218220299
MESH:D011472 Prostatitis vinclozolin 6.0218629315
Pathway ID Pathway Name
KEGG:04142 Lysosome
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134990433
    • No data
    Releated disease ID Related disease Name
    PA445757Stuttering
    No data
    Drug Bank Top

    Simple Query:


      (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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved