PedAM
Pediatric Disease Annotations & Medicines
| strabismus | ||||
| Disease ID | 314 |
|---|---|
| Disease | strabismus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C2712332 | vomiting C2364108 | stigma C1963184 | nystagmus C1856184 | hemihyperplasia C1270923 | functional amblyopia C0948289 | dellen C0595921 | intraocular pressure C0520905 | postoperative vomiting C0339611 | monofixation syndrome C0302129 | rod monochromatism C0271190 | monocular diplopia C0262471 | ent problem C0155010 | anomalous retinal correspondence C0042790 | vision disorder C0037763 | spasm C0036454 | scotoma C0035321 | retinal perforation C0034951 | refractive errors C0030201 | postoperative pain C0027092 | myopia C0012569 | double vision C0012569 | diplopia C0004106 | astigmatism C0002636 | amniotic band syndrome C0002418 | amblyopia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0002418 | amblyopia | 19 C0012569 | diplopia | 12 C0028738 | nystagmus | 5 C0034951 | refractive errors | 3 C0004106 | astigmatism | 2 C0027092 | myopia | 2 C0012569 | double vision | 1 C0155010 | anomalous retinal correspondence | 1 C0030201 | postoperative pain | 1 C0037763 | spasm | 1 C0042790 | vision disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs730882198 | NA | 23111 | SPG20 | umls:C0038379 | CLINVAR | NA | 0.12 | NA | SPG20 | 13 | 36314259 | - | T |
| rs730882203 | NA | 127343 | DMBX1 | umls:C0038379 | CLINVAR | NA | 0.12 | NA | DMBX1 | 1 | 46510953 | C | T |
| rs77543610 | 17251833 | 2263 | FGFR2 | umls:C0038379 | BeFree | There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation. | 0.000542884 | 2007 | FGFR2 | 10 | 121520160 | G | C |
| rs79184941 | 17251833 | 2263 | FGFR2 | umls:C0038379 | BeFree | There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation. | 0.000542884 | 2007 | FGFR2 | 10 | 121520163 | G | C,A |
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:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0038379 | bupivacaine | D002045 | 2180-92-9 | strabismus | MESH:D013285 | marker/mechanism | 11641647 | ||
| C0038379 | lidocaine | D008012 | 137-58-6 | strabismus | MESH:D013285 | marker/mechanism | 11641647 | ||
| C0038379 | thalidomide | D013792 | 50-35-1 | strabismus | MESH:D013285 | marker/mechanism | 2019959 | ||
| C0038379 | valproic acid | D014635 | 99-66-1 | strabismus | MESH:D013285 | marker/mechanism | 11986102 | ||
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.) | |