PedAM
Pediatric Disease Annotations & Medicines
| eye disease | ||||
| Disease ID | 822 |
|---|---|
| Disease | eye disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10237118 | 20395239 | 27147 | DENND2A | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | DENND2A | 7 | 140531330 | C | A |
| rs1061170 | 20385334 | 3075 | CFH | umls:C0015397 | BeFree | We review recent developments in molecular genetics; SNPs, including Y402H; the three-dimensional structure; and mass spectroscopy of Factor H as it relates to the pathogenesis of eye disease. | 0.003267234 | 2010 | CFH | 1 | 196690107 | C | T |
| rs12741973 | 20395239 | 5195 | PEX14 | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | PEX14 | 1 | 10578547 | C | T |
| rs1436900 | 20395239 | 2104 | ESRRG | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | ESRRG | 1 | 216885137 | C | T |
| rs17111394 | 20395239 | 7253 | TSHR | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.006448592 | 2010 | TSHR;LOC101928462 | 14 | 81056784 | T | C |
| rs201654095 | 22194652 | 778 | CACNA1F | umls:C0015397 | BeFree | A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. | 0.003267234 | 2011 | CACNA1F | X | 49224864 | C | G |
| rs231775 | 12534352 | 1493 | CTLA4 | umls:C0015397 | BeFree | We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian patients with Graves' disease (GD), of which 95 had clinically evident GO (NOSPECS class >or=3) and 319 Japanese patients with GD, of which 99 had ophthalmopathy. | 0.002171535 | 2003 | CTLA4 | 2 | 203867991 | A | G,T |
| rs2898681 | 20395239 | 152579 | SCFD2 | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | SCFD2 | 4 | 52890833 | G | A |
| rs3858145 | 20395239 | 220202 | ATOH7 | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | NA | 10 | 68252081 | A | G |
| rs735854 | 20395239 | 4627 | MYH9 | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | MYH9 | 22 | 36283012 | T | C |
| rs8000245 | 20395239 | 11278 | KLF12 | umls:C0015397 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | KLF12 | 13 | 74156255 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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:16) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0015397 | betaxolol | D015784 | 63659-18-7 | eye diseases | MESH:D005128 | marker/mechanism | 9342554 | ||
| C0015397 | carbamazepine | D002220 | 298-46-4 | eye diseases | MESH:D005128 | marker/mechanism | 18976089 | ||
| C0015397 | chloroquine | D002738 | 1954/5/7 | eye diseases | MESH:D005128 | marker/mechanism | 12608045 | ||
| C0015397 | cyclosporine | D016572 | 59865-13-3 | eye diseases | MESH:D005128 | therapeutic | 2566048 | ||
| C0015397 | cisplatin | D002945 | 15663-27-1 | eye diseases | MESH:D005128 | marker/mechanism | 10172409 | ||
| C0015397 | disopyramide | D004206 | 3737/9/5 | eye diseases | MESH:D005128 | marker/mechanism | 6509010 | ||
| C0015397 | doxycycline | D004318 | 564-25-0 | eye diseases | MESH:D005128 | therapeutic | 19061933 | ||
| C0015397 | ethambutol | D004977 | 74-55-5 | eye diseases | MESH:D005128 | marker/mechanism | 1026648 | ||
| C0015397 | fluoxetine | D005473 | 54910-89-3 | eye diseases | MESH:D005128 | marker/mechanism | 1621023 | ||
| C0015397 | ketorolac | D020910 | 66635-83-4 | eye diseases | MESH:D005128 | therapeutic | 11084241 | ||
| C0015397 | methadone | D008691 | 76-99-3 | eye diseases | MESH:D005128 | marker/mechanism | 6178811 | ||
| C0015397 | timolol | D013999 | 26839-75-8 | eye diseases | MESH:D005128 | marker/mechanism | 6125102 | ||
| C0015397 | tranexamic acid | D014148 | 1197-18-8 | eye diseases | MESH:D005128 | marker/mechanism | 7206930 | ||
| C0015397 | vigabatrin | D020888 | 60643-86-9 | eye diseases | MESH:D005128 | marker/mechanism | 12684739 | ||
| C0015397 | vitamin a | D014801 | 11103-57-4 | eye diseases | MESH:D005128 | marker/mechanism | 15488795 | ||
| C0015397 | vitamin e | D014810 | 1406-18-4 | eye diseases | MESH:D005128 | marker/mechanism | 14580610 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |