AutismKB 2.0

Annotation Detail for SGSH


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Basic Information Top
Gene Symbol:SGSH ( HSS,MPS3A,SFMD )
Gene Full Name: N-sulfoglucosamine sulfohydrolase
Band: 17q25.3
Quick LinksEntrez ID:6448; OMIM: 605270; Uniprot ID:SPHM_HUMAN; ENSEMBL ID: ENSG00000181523; HGNC ID: 10818
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
hsa00531Glycosaminoglycan degradation
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00130Mucopolysaccharidosis type III (MPS3)
Genetic disorders
Desease IDDesease Name
2027Connective tissue disease
No data
No data
Desease Name
Sanfilippo syndrome, type A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of SGSH mRNAincreases expression 20106945
D012643 Selenium Selenium results in increased expression of SGSH mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of SGSH mRNA]affects reaction|increases expression 16891777
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SGSH mRNAincreases expression 16891777
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 12621046 8697196 15668235 16354765
MESH:D003092 Colitis Selenium 4.4317936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Selenium 4.1115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.1120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7715322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Cyclosporine 10.7512639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.7520067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006333 Heart Failure Selenium 3.3217162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.918697196 16354765 16959395 15340226 18606429
MESH:D006973 Hypertension Cyclosporine 5.3910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3918850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412878042 12200463
MESH:D007251 Influenza, Human Selenium 5.0616624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.568314463 10903974 18776723
MESH:D007676 Kidney Failure, Chronic Selenium 4.3716518626
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Selenium 3.0215318939
MESH:D008654 Mesothelioma Selenium 2.9315107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009084 Mucopolysaccharidosis III marker/mechanism
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D010954 Plasmacytoma Selenium 5.7615087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311118676 11399792 11896295 11222880
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
KEGG:00531 Glycosaminoglycan degradation
KEGG:04142 Lysosome
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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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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