PedAM
Pediatric Disease Annotations & Medicines
| keratoconjunctivitis | ||||
| Disease ID | 1486 |
|---|---|
| Disease | keratoconjunctivitis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0000563 | Conical cornea | 3 HP:0001047 | Atopic dermatitis | 3 HP:0000969 | Dropsy | 3 HP:0001097 | Keratoconjunctivitis sicca | 2 HP:0000572 | Visual loss | 2 HP:0000491 | Corneal inflammation | 2 HP:0012804 | Corneal ulceration | 2 HP:0002960 | Autoimmune condition | 2 HP:0001880 | Eosinophilia | 1 HP:0011496 | Corneal vascularization | 1 HP:0000643 | Spontaneous closure of eyelid | 1 HP:0200020 | Corneal erosion | 1 HP:0100533 | Ocular inflammation | 1 HP:0000554 | Uveitis | 1 HP:0012122 | Anterior uveitis | 1 HP:0100324 | Progressive systemic scleroderma | 1 HP:0000498 | Inflammation of eyelids | 1 HP:0000618 | Blindness | 1 HP:0007957 | Corneal clouding | 1 HP:0000989 | pruritis | 1 HP:0000509 | Conjunctivitis | 1 HP:0100539 | Periorbital swelling | 1 HP:0012384 | Nasal inflammation | 1 HP:0000613 | Extreme light sensitivity | 1 |
| Disease ID | 1486 |
|---|---|
| Disease | keratoconjunctivitis |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1478604 | 24679443 | 7057 | THBS1 | umls:C0022573 | BeFree | Carriers of the rs1478604 minor allele expressed significantly reduced levels of thrombospondin 1 (TSP1) (P = 0.042) and increased levels of an inflammatory cytokine associated with keratoconjunctivitis, interleukin-1β (P = 0.025), in their ocular surface epithelial cells compared with homozygous major allele controls. | 0.000271442 | 2014 | THBS1 | 15 | 39581120 | T | 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: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.) | |