AutismKB 2.0

Annotation Detail for GBA3


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Basic Information Top
Gene Symbol:GBA3 ( CBGL1,GLUC,KLrP,MGC104276,MGC126878 )
Gene Full Name: glucosidase, beta, acid 3 (cytosolic)
Band: 4p15.2
Quick LinksEntrez ID:57733; OMIM: 606619; Uniprot ID:GBA3_HUMAN; ENSEMBL ID: ENSG00000249948; HGNC ID: 19069
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00500Starch and sucrose metabolism
hsa00460Cyanoamino acid metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of GBA3 proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of GBA3 mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of GBA3 mRNAdecreases expression 20106945
D018038 Sodium Selenite Sodium Selenite results in decreased expression of GBA3 mRNAdecreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of GBA3 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 14514962 11752688
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Estradiol 1.9012948864 16675129 17289903 14630087 18497071 17261762 19861407 17018787
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9020435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1612619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1616924424
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3612371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.3618566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15340226 16354765 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.0915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 3.2011473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 4.3617088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 15340226 18606429 16959395 16354765
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance Estradiol 8.1616627594 16393666
MESH:D007333 Insulin Resistance Sodium Selenite 8.1614714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 6.5518776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 6.5515618244
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D007680 Kidney Neoplasms Estradiol 8.3015610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.819163691 15890375 2125692 18177683
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8116984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.498603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4912151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.3814755239
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3811884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7711408345 11807958 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5516810080
MESH:D009389 Neovascularization, Pathologic Estradiol 4.2717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 10.9716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.9714600291
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311222880 11118676 11399792 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.1916740699
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.1918760546
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:00460 Cyanoamino acid metabolism
KEGG:00500 Starch and sucrose metabolism
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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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