AutismKB 2.0

Annotation Detail for GALC


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Basic Information Top
Gene Symbol:GALC ( - )
Gene Full Name: galactosylceramidase
Band: 14q31.3
Quick LinksEntrez ID:2581; OMIM: 606890; Uniprot ID:GALC_HUMAN; ENSEMBL ID: ENSG00000054983; HGNC ID: 4115
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00600Sphingolipid metabolism
hsa04142Lysosome
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00135Krabbe disease
Genetic disorders
No data
No data
No data
Desease Name
Krabbe disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001104 Arbutin Arbutin results in increased expression of GALC mRNAincreases expression 17103032
D003520 Cyclophosphamide GALC protein affects the susceptibility to Cyclophosphamideaffects response to substance 16217747
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of GALC mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of GALC mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of GALC mRNAincreases expression 19465110
D014415 Tunicamycin Tunicamycin results in increased expression of GALC mRNAincreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Cyclophosphamide 11.6015014928
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 11.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Cyclophosphamide 1.9215093573 11325840 18323546 17388661 12006526 18234424 16978400 17020986 15136595
MESH:D001943 Breast Neoplasms Tamoxifen 1.9218855134 16273361 19115204 19410462 18629630 19244106 18351453 15565566 19221464 19066611 17893378 19487384 18815881 15668708 19011961 19200415 16202921 18984771 19084267 20065188 19142967 17049068 19189210 18425577 19189212 19289846 20135344 19288272 19155303 21138602 19059307 17261762 11161223 16873071 17242785 20005174 20544844 18997820 17440819 20390343 18821012 19103187 16818667 20859285 21152245
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Cyclophosphamide 3.4119701751
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.4116924424
MESH:D018827 Carcinoma, Lewis Lung Cyclophosphamide 5.3516152834
MESH:D002292 Carcinoma, Renal Cell Cyclophosphamide 3.6616201981
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1015861022 16105132 11677210 16919318 17110522 17333356 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2115340226 12621046 8697196 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003556 Cystitis Cyclophosphamide 5.5118093676 12388444 15643279 18483878 10498854 11948286 16614059 17010015 18372110 17979934 15276878 10700343 12913760 18295254 18433785 16651033 12161096 16413132 16989017 18710439
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003921 Diabetes Mellitus, Experimental Cyclophosphamide 4.3315331540 10990075 11751995
MESH:D003922 Diabetes Mellitus, Type 1 Cyclophosphamide 3.2918772604
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2420544844 16202921 19155303 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004802 Eosinophilia Cyclophosphamide 4.6311006010
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.7915345470
MESH:D005234 Fatty Liver Tamoxifen 8.7919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D018316 Gliosarcoma Cyclophosphamide 5.9811389073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006086 Graft vs Host Disease Cyclophosphamide 5.4511014644 16376943 15172196
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006467 Hemophilia A Cyclophosphamide 5.7111918545
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006504 Hepatic Veno-Occlusive Disease Cyclophosphamide 6.0514986274
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 16120746 12621046
MESH:D006689 Hodgkin Disease Cyclophosphamide 4.0716135485 17606976
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 16959395 15340226 18606429 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007154 Immune System Diseases Cyclophosphamide 5.8516076520
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Cyclophosphamide 7.557193160 16517039
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.5517937319
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3118625569
MESH:D007938 Leukemia Cyclophosphamide 3.6210602166
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Cyclophosphamide 3.6117296974 17802794 17658394 18587576 18172266 17008537
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Cyclophosphamide 4.3210373061
MESH:D007965 Leukodystrophy, Globoid Cell marker/mechanism
MESH:D007970 Leukopenia Cyclophosphamide 5.4310052129 11830472
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3218625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3211884234 19555203
MESH:D008223 Lymphoma Cyclophosphamide 4.0512854902
MESH:D016393 Lymphoma, B-Cell Cyclophosphamide 4.9516675587
MESH:D008228 Lymphoma, Non-Hodgkin Cyclophosphamide 4.4411911406
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8111731420 16827153 14580682 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008546 Melanoma, Experimental Cyclophosphamide 5.2216388313
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009369 Neoplasms Cyclophosphamide 3.2618854779
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219200415 19196722 19189210
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009447 Neuroblastoma Cyclophosphamide 3.788761367 16115947 15176712
MESH:D017599 Neuroectodermal Tumors Cyclophosphamide 5.358761367 12837982
MESH:D009503 Neutropenia Cyclophosphamide 4.688291058
MESH:D009845 Oligospermia Cyclophosphamide 5.1716517039
MESH:D010146 Pain Cyclophosphamide 3.8918093676 12161096
MESH:D010190 Pancreatic Neoplasms Cyclophosphamide 3.2711332152
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Cyclophosphamide 3.9621297632
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms Cyclophosphamide 3.4217136230
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.4215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D011658 Pulmonary Fibrosis Cyclophosphamide 3.3816636934
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012595 Scleroderma, Systemic Cyclophosphamide 5.1716636934
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
OMIM:102530 SPERMATOGENIC FAILURE 6 Cyclophosphamide 5.9816517039
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D015173 Supratentorial Neoplasms Cyclophosphamide 5.5212837982
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms Cyclophosphamide 5.6914692829
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.6917572228 16712894 8653321
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04142 Lysosome
KEGG:01100 Metabolic pathways
KEGG:00600 Sphingolipid metabolism
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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