PedAM
Pediatric Disease Annotations & Medicines
| gilles de la tourette syndrome | ||||
| Disease ID | 487 |
|---|---|
| Disease | gilles de la tourette syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0100033 | Tic disorder | 34 HP:0000752 | Hyperactive behavior | 5 HP:0100034 | Motor tics | 3 HP:0007018 | Attention deficits | 3 HP:0000708 | Behavioral problems | 2 HP:0000722 | Obsessive compulsive disorder | 2 HP:0100660 | Dyskinesis | 2 HP:0100035 | Vocal tics | 2 HP:0000563 | Conical cornea | 1 HP:0002930 | Resistance to thyroid hormone | 1 HP:0000716 | Depression | 1 HP:0001631 | Atria septal defect | 1 HP:0100716 | Autoagression | 1 HP:0000473 | Spasmodic torticollis | 1 HP:0040141 | Tardive dyskinesia | 1 HP:0100022 | Movement disorder | 1 HP:0011468 | Facial tics | 1 HP:0000734 | Disinhibition | 1 HP:0002196 | Myelopathy | 1 HP:0007302 | Bipolar disorder | 1 HP:0000739 | Anxiety | 1 HP:0002315 | Headaches | 1 HP:0002318 | Cervical myelopathy | 1 |
| Disease ID | 487 |
|---|---|
| Disease | gilles de la tourette syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1059004 | 17283288 | 10215 | OLIG2 | umls:C0040517 | BeFree | The following 3 single nucleotide polymorphism markers on OLIG2 were associated with the OCD without TD phenotype: rs762178 (minor allele frequency, 35%; P<.001), rs1059004 (minor allele frequency, 44%; P = .005), and rs9653711 (minor allele frequency, 44%; P = .004). | 0.000271442 | 2007 | OLIG2 | 21 | 33028155 | C | A |
| rs191284403 | NA | 114798 | SLITRK1 | umls:C0040517 | CLINVAR | NA | 0.347161507 | NA | SLITRK1 | 13 | 83878728 | C | T |
| rs193302861 | NA | 114798 | SLITRK1 | umls:C0040517 | CLINVAR | NA | 0.347161507 | NA | SLITRK1 | 13 | 83880244 | G | - |
| rs267606861 | NA | 3067 | HDC | umls:C0040517 | CLINVAR | NA | 0.200814326 | NA | HDC | 15 | 50252520 | C | T |
| rs386602276 | 20010450 | 3350 | HTR1A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.002638474 | 2010 | NA | NA | NA | NA | NA |
| rs386602276 | 20010450 | 6532 | SLC6A4 | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | NA | NA | NA | NA | NA |
| rs386602276 | 20010450 | 3356 | HTR2A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | NA | NA | NA | NA | NA |
| rs386602280 | 20010450 | 3356 | HTR2A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | NA | NA | NA | NA | NA |
| rs386602280 | 20010450 | 3350 | HTR1A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.002638474 | 2010 | NA | NA | NA | NA | NA |
| rs386602280 | 20010450 | 6532 | SLC6A4 | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | NA | NA | NA | NA | NA |
| rs6280 | 25698199 | 1814 | DRD3 | umls:C0040517 | BeFree | Association between Tourette syndrome and the dopamine D3 receptor gene rs6280. | 0.12554839 | 2015 | DRD3 | 3 | 114171968 | C | T |
| rs6295 | 20010450 | 6532 | SLC6A4 | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | HTR1A | 5 | 63962738 | C | G |
| rs6295 | 20010450 | 3350 | HTR1A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.002638474 | 2010 | HTR1A | 5 | 63962738 | C | G |
| rs6295 | 20010450 | 3356 | HTR2A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | HTR1A | 5 | 63962738 | C | G |
| rs6311 | 17241828 | 3356 | HTR2A | umls:C0040517 | BeFree | Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic disorder and OCD (p = .05), replicating a previous finding in Tourette syndrome and OCD. | 0.005276948 | 2007 | HTR2A | 13 | 46897343 | C | T |
| rs6313 | 20010450 | 3350 | HTR1A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.002638474 | 2010 | HTR2A | 13 | 46895805 | G | A |
| rs6313 | 20010450 | 3356 | HTR2A | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | HTR2A | 13 | 46895805 | G | A |
| rs6313 | 20010450 | 6532 | SLC6A4 | umls:C0040517 | BeFree | As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls. | 0.005276948 | 2010 | HTR2A | 13 | 46895805 | G | A |
| rs762178 | 17283288 | 10215 | OLIG2 | umls:C0040517 | BeFree | The following 3 single nucleotide polymorphism markers on OLIG2 were associated with the OCD without TD phenotype: rs762178 (minor allele frequency, 35%; P<.001), rs1059004 (minor allele frequency, 44%; P = .005), and rs9653711 (minor allele frequency, 44%; P = .004). | 0.000271442 | 2007 | OLIG2 | 21 | 33027093 | A | G |
| rs7868992 | 22889924 | 85301 | COL27A1 | umls:C0040517 | GWASCAT | Genome-wide association study of Tourette's syndrome. | 0.12 | 2014 | COL27A1 | 9 | 114228791 | G | A |
| rs9653711 | 17283288 | 10215 | OLIG2 | umls:C0040517 | BeFree | The following 3 single nucleotide polymorphism markers on OLIG2 were associated with the OCD without TD phenotype: rs762178 (minor allele frequency, 35%; P<.001), rs1059004 (minor allele frequency, 44%; P = .005), and rs9653711 (minor allele frequency, 44%; P = .004). | 0.000271442 | 2007 | OLIG2 | 21 | 33029641 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:14) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0040517 | aripiprazole | D000068180 | - | tourette syndrome | MESH:D005879 | therapeutic | 16569800 | ||
| C0040517 | carbamazepine | D002220 | 298-46-4 | tourette syndrome | MESH:D005879 | marker/mechanism | 6587312 | ||
| C0040517 | clonidine | D003000 | 4205-90-7 | tourette syndrome | MESH:D005879 | marker/mechanism | 1564044 | ||
| C0040517 | clonidine | D003000 | 4205-90-7 | tourette syndrome | MESH:D005879 | therapeutic | 2768153 | ||
| C0040517 | dronabinol | D013759 | - | tourette syndrome | MESH:D005879 | therapeutic | 15108190 | ||
| C0040517 | fluoxetine | D005473 | 54910-89-3 | tourette syndrome | MESH:D005879 | therapeutic | 2057015 | ||
| C0040517 | fluvoxamine | D016666 | 54739-18-3 | tourette syndrome | MESH:D005879 | marker/mechanism | 7952995 | ||
| C0040517 | haloperidol | D006220 | 52-86-8 | tourette syndrome | MESH:D005879 | marker/mechanism | 2340455 | ||
| C0040517 | haloperidol | D006220 | 52-86-8 | tourette syndrome | MESH:D005879 | therapeutic | 12405556 | ||
| C0040517 | methylphenidate | D008774 | 113-45-1 | tourette syndrome | MESH:D005879 | marker/mechanism | 268954 | ||
| C0040517 | nicotine | D009538 | - | tourette syndrome | MESH:D005879 | therapeutic | 15774505 | ||
| C0040517 | olanzapine | C076029 | 132539-06-1 | tourette syndrome | MESH:D005879 | marker/mechanism | 17597439 | ||
| C0040517 | oxycodone | D010098 | 76-42-6 | tourette syndrome | MESH:D005879 | therapeutic | 2057015 | ||
| C0040517 | tetrabenazine | D013747 | 58-46-8 | tourette syndrome | MESH:D005879 | therapeutic | 3279337 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |