AutismKB 2.0

Annotation Detail for NAGA


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Basic Information Top
Gene Symbol:NAGA ( D22S674,GALB )
Gene Full Name: N-acetylgalactosaminidase, alpha-
Band: 22q13.2
Quick LinksEntrez ID:4668; OMIM: 104170; Uniprot ID:NAGAB_HUMAN; ENSEMBL ID: ENSG00000198951; HGNC ID: 7631
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00603Glycosphingolipid biosynthesis - globo series
hsa04142Lysosome
No data
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Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00146Alpha-N-acetylgalactosaminidase deficiency
Genetic disorders
No data
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Desease Name
Schindler disease, type I
Schindler disease, type III
Kanzaki disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000001 Calcimycin Calcimycin affects the activity of NAGA proteinaffects activity 18475545
D016572 Cyclosporine Cyclosporine results in decreased expression of NAGA mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of NAGA mRNAincreases expression 17942748
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NAGA mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D002779 Cholestasis Cyclosporine 15.0819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 15.0816105132 11677210 16919318 17110522 17333356 15861022 17681005
MESH:D002779 Cholestasis pirinixic acid 15.0819176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D005234 Fatty Liver Cyclosporine 15.6019224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.6015345470
MESH:D005234 Fatty Liver pirinixic acid 15.6020131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.7012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly pirinixic acid 3.5516221962 19772884 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:C536891 Kanzaki disease marker/mechanism
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.548314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9320007298 15890375 16377806
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011537 Pruritus Ethinyl Estradiol 3.9415861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
OMIM:609241 SCHINDLER DISEASE, TYPE I marker/mechanism
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
Pathway ID Pathway Name
KEGG:00603 Glycosphingolipid biosynthesis - globo series
KEGG:04142 Lysosome
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB04077 - Glycerol Solvents;Cryoprotective Agents
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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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