PedAM
Pediatric Disease Annotations & Medicines
| microphthalmia | ||||
| Disease ID | 453 |
|---|---|
| Disease | microphthalmia |
| 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) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913507 | 18390729 | 3815 | KIT | umls:C0026010 | BeFree | We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic mastocytosis, induces cluster formation and expression of several mast cell differentiation and adhesion Ags, including microphthalmia transcription factor, IL-4 receptor, histamine, CD63, and ICAM-1 in IL-3-dependent BaF3 cells. | 0.000542884 | 2008 | KIT | 4 | 54733155 | A | T |
| rs149617956 | 23774529 | 4286 | MITF | umls:C0026010 | BeFree | A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. | 0.003257302 | 2013 | MITF | 3 | 69964940 | G | A |
| rs387906911 | 22226084 | 10058 | ABCB6 | umls:C0026010 | BeFree | Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC. | 0.000271442 | 2012 | ABCB6 | 2 | 219218505 | C | T |
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) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0026010 | busulfan | D002066 | 55-98-1 | microphthalmos | MESH:D008850 | marker/mechanism | 17290349 | ||
| C0026010 | cladribine | D017338 | 4291-63-8 | microphthalmos | MESH:D008850 | marker/mechanism | 12115775 | ||
| C0026010 | phenytoin | D010672 | 57-41-0 | microphthalmos | MESH:D008850 | marker/mechanism | 4441320 | ||
| C0026010 | thalidomide | D013792 | 50-35-1 | microphthalmos | MESH:D008850 | marker/mechanism | 4631040 | ||
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.) | |