AutismKB 2.0

Annotation Detail for GLI3


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Basic Information Top
Gene Symbol:GLI3 ( ACLS,GCPS,PAP-A,PAPA,PAPA1,PAPB,PHS,PPDIV )
Gene Full Name: GLI family zinc finger 3
Band: 7p14.1
Quick LinksEntrez ID:2737; OMIM: 165240; Uniprot ID:GLI3_HUMAN; ENSEMBL ID: ENSG00000106571; HGNC ID: 4319
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04340Hedgehog signaling pathway
hsa05217Basal cell carcinoma
hsa05200Pathways in cancer
No data
Pathway IDPathway Name
200147Hedgehog signaling events mediated by Gli proteins
Pathway IDPathway Name
P00025Hedgehog signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1777Intractable epilepsy
1832Congenital abnormality
Desease Name
talipes equinovarus
DEVELOPMENTAL
No data
Desease Name
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, postaxial, types A1 and B
Hypothalamic hamartomas, somatic
Polydactyly, preaxial, type IV
Acrocallosal syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of GLI3 mRNAdecreases expression 19150397
20382639
D004958 Estradiol Estradiol results in decreased expression of GLI3 mRNAdecreases expression 15328011
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of GLI3 geneincreases mutagenesis 18397875
D014635 Valproic Acid GLI3 gene mutant form results in increased susceptibility to Valproic Acidincreases response to substance 16359493
D014635 Valproic Acid GLI3 protein results in decreased susceptibility to Valproic Aciddecreases response to substance 16359493
D014635 Valproic Acid Valproic Acid promotes the reaction [GLI3 gene mutant form affects the expression of FGF8 mRNA]affects expression|increases reaction 16359493
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D055673 Acrocallosal Syndrome marker/mechanism
MESH:D000230 Adenocarcinoma Estradiol 2.1711473722
MESH:D000236 Adenoma Ethylnitrosourea 3.926695378
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9819460635 20603192 17688650 17507914 18940202 18316065 18177632 16609825 19232924 15238991 18396377 18558336 17157402 18775368 18985861
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D001927 Brain Diseases Ethylnitrosourea 5.2814991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.6818412241 15144691 16357521 16651633 16436596
MESH:D001943 Breast Neoplasms Estradiol 2.1016675129 12948864 14630087 17289903 17261762 18497071 17018787 19861407
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0916111702
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7916924424
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.8620889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.8618566989
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 12.8616003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.7117160924
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 17688650 16575769
MESH:D003928 Diabetic Nephropathies Estradiol 3.7819279558
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.251733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.7118357618
MESH:D016889 Endometrial Neoplasms Estradiol 3.2218566989 11473722 19148513
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Valproic Acid 3.7219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.648888407 18558336
MESH:D005909 Glioblastoma Ethylnitrosourea 4.0716436596
MESH:D005910 Glioma Ethylnitrosourea 3.6218412241 16651633 16357521
MESH:C537300 Greig cephalopolysyndactyly syndrome marker/mechanism 10441342 9302279 14608643 15739154 18154020 18241058
MESH:D006558 Herpes Genitalis Estradiol 5.7615709030
MESH:D019584 Hot Flashes Estradiol 4.4717088409
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D017496 Hypopigmentation marker/mechanism 18397875
MESH:C537158 Hypothalamic hamartomas marker/mechanism
MESH:D007333 Insulin Resistance Estradiol 3.2116627594 16393666
MESH:D007674 Kidney Diseases Estradiol 2.7815618244
MESH:D007680 Kidney Neoplasms Estradiol 8.8815610895
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.8817379185
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814716833 14659978
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.636695378 16019985 17703301 16271038
MESH:D008223 Lymphoma Ethylnitrosourea 4.2215790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.6115375218
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 7.1017203775 16891317 11408345 11807958
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 7.1018041768 10767621 10838139
MESH:D020149 Manganese Poisoning Estradiol 5.2119453300
MESH:D008579 Meningioma Ethylnitrosourea 6.7117943659
MESH:D008881 Migraine Disorders Valproic Acid 3.4718803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5916810080
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.9616707424
MESH:D009389 Neovascularization, Pathologic Estradiol 4.3617289903
MESH:D009421 Nervous System Malformations Estradiol 4.1616427766 11399458
MESH:D009436 Neural Tube Defects marker/mechanism 16359493
MESH:D009436 Neural Tube Defects Valproic Acid 3.3716359493 8888407
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.0517160924 16003739 16651423
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.7117160924
MESH:D010051 Ovarian Neoplasms Estradiol 2.3119401270
MESH:D054975 Pallister-Hall Syndrome marker/mechanism 15739154 21532573
OMIM:174200 POLYDACTYLY, POSTAXIAL, TYPE A1 marker/mechanism
OMIM:174700 POLYDACTYLY, PREAXIAL IV marker/mechanism
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.3120887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0216740699
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9916876388 15475178 14763951 3137016 11044598 17978042 1511512 11738929
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.7915790496
MESH:D013978 Tibial Fractures Estradiol 5.4119048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
Pathway ID Pathway Name
KEGG:05217 Basal cell carcinoma
KEGG:04340 Hedgehog signaling pathway
KEGG:05200 Pathways in cancer
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28722
    • No data
    Releated disease ID Related disease Name
    PA444341Hamartoma
    PA162372751Hypothalamic Hamartomas
    No data
    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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