PedAM
Pediatric Disease Annotations & Medicines
| optic nerve disease | ||||
| Disease ID | 860 |
|---|---|
| Disease | optic nerve disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 860 |
|---|---|
| Disease | optic nerve disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11258194 | 16885188 | 10133 | OPTN | umls:C0029132 | BeFree | The role of the Met98Lys optineurin variant in inherited optic nerve diseases. | 0.000542884 | 2006 | OPTN | 10 | 13110400 | T | A |
| rs491391 | 20395239 | 53353 | LRP1B | umls:C0029132 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | LRP1B | 2 | 140604489 | A | C,G |
| rs6480314 | 20395239 | 84665 | MYPN | umls:C0029132 | GAD | [Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.] | 0.002367032 | 2010 | MYPN;LOC105378341 | 10 | 68207690 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 4 | 96458433 | rs10032931 | T | C | rs10032931 | 20395239 | 4.00E-06 | NA | 0.2 | [0.10-0.29] unit decrease | 1,368 European ancestry twins from 666 families | European(1368) | ALL(1368) | EUR(1368) | ALL(1368) | Optic nerve measurement (cup-to-disc ratio) | HPOID:0000587 | Abnormality of the optic nerve | DOID:1891 | optic nerve disease | NA | NA | NA | NA | Neuropathy | rs10032931-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 12 | 90444042 | rs10858946 | A | C | rs10858946 | 20395239 | 6.00E-06 | NA | 0.18 | [0.093-0.265] unit increase | 1,368 European ancestry twins from 666 families | European(1368) | ALL(1368) | EUR(1368) | ALL(1368) | Optic nerve measurement (cup-to-disc ratio) | HPOID:0000587 | Abnormality of the optic nerve | DOID:1891 | optic nerve disease | NA | NA | NA | NA | Neuropathy | rs10858945-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
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:18) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0029132 | carmustine | D002330 | 154-93-8 | optic nerve diseases | MESH:D009901 | marker/mechanism | 11020424 | ||
| C0029132 | chloramphenicol | D002701 | 56-75-7 | optic nerve diseases | MESH:D009901 | marker/mechanism | 7417077 | ||
| C0029132 | cimetidine | D002927 | 51481-61-9 | optic nerve diseases | MESH:D009901 | marker/mechanism | 10394044 | ||
| C0029132 | ciprofloxacin | D002939 | 85721-33-1 | optic nerve diseases | MESH:D009901 | marker/mechanism | 17300586 | ||
| C0029132 | colchicine | D003078 | 64-86-8 | optic nerve diseases | MESH:D009901 | marker/mechanism | 17421021 | ||
| C0029132 | cisplatin | D002945 | 15663-27-1 | optic nerve diseases | MESH:D009901 | marker/mechanism | 11020424 | ||
| C0029132 | digoxin | D004077 | 20830-75-5 | optic nerve diseases | MESH:D009901 | marker/mechanism | 12365708 | ||
| C0029132 | ethambutol | D004977 | 74-55-5 | optic nerve diseases | MESH:D009901 | marker/mechanism | 11229182 | ||
| C0029132 | fluorouracil | D005472 | 51-21-8 | optic nerve diseases | MESH:D009901 | marker/mechanism | 12635664 | ||
| C0029132 | folic acid | D005492 | 59-30-3 | optic nerve diseases | MESH:D009901 | therapeutic | 15937433 | ||
| C0029132 | linezolid | D000069349 | - | optic nerve diseases | MESH:D009901 | marker/mechanism | 16857689 | ||
| C0029132 | methotrexate | D008727 | 1959/5/2 | optic nerve diseases | MESH:D009901 | marker/mechanism | 15937433 | ||
| C0029132 | norepinephrine | D009638 | 51-41-2 | optic nerve diseases | MESH:D009901 | therapeutic | 6213676 | ||
| C0029132 | paclitaxel | D017239 | - | optic nerve diseases | MESH:D009901 | marker/mechanism | 7912737 | ||
| C0029132 | quinine | D011803 | 130-95-0 | optic nerve diseases | MESH:D009901 | marker/mechanism | 5977436 | ||
| C0029132 | ribavirin | D012254 | 36791-04-5 | optic nerve diseases | MESH:D009901 | marker/mechanism | 17878818 | ||
| C0029132 | tacrolimus | D016559 | 109581-93-3 | optic nerve diseases | MESH:D009901 | marker/mechanism | 10764869 | ||
| C0029132 | vincristine | D014750 | - | optic nerve diseases | MESH:D009901 | marker/mechanism | 6512355 | ||
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.) | |