PedAM
Pediatric Disease Annotations & Medicines
| stargardt disease | ||||
| Disease ID | 426 |
|---|---|
| Disease | stargardt disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0000603 | Central scotoma HP:0008059 | Aplasia/Hypoplasia of the macula HP:0000551 | Abnormality of color vision HP:0007722 | Loss of retinal pigment epithelium HP:0008002 | Abnormality of macular pigmentation HP:0007663 | Reduced visual acuity HP:0007704 | Paroxysmal involuntary eye movements HP:0030500 | Yellow/white lesions of the macula HP:0000610 | Abnormality of the choroid HP:0000649 | Abnormality of visual evoked potentials HP:0000662 | Nyctalopia HP:0007814 | Salt and pepper retinopathy HP:0030329 | Retinal thinning HP:0000493 | Abnormality of the fovea HP:0000608 | Macular degeneration |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000662 | Poor night vision | 1 HP:0011504 | Bull's eye maculopathy | 1 HP:0007642 | Congenital stationary night blindness | 1 HP:0000603 | Central scotomata | 1 HP:0000575 | Scotoma | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0000572 | Visual loss | 1 HP:0030637 | Cone dysfunction | 1 HP:0100014 | Macular pucker | 1 |
| Disease ID | 426 |
|---|---|
| Disease | stargardt 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 |
| rs28938473 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94007731 | G | A |
| rs61753033 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94008767 | A | G |
| rs61753034 | NA | 24 | ABCA4 | umls:C0271093 | CLINVAR | NA | 0.247101096 | NA | ABCA4 | 1 | 94007727 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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:0) | |
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| (Waiting for update.) | |
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.) | |