PedAM
Pediatric Disease Annotations & Medicines
| polydactyly | ||||
| Disease ID | 436 |
|---|---|
| Disease | polydactyly |
| 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:1) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912765 | 18252212 | 652 | BMP4 | umls:C0152427 | BeFree | Using a positional candidate gene approach, we analyzed the BMP4 (Bone Morphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydactyly in a family and a nonconservative missense mutation (c.278A-->G, p.E93G) in a highly conserved base in another family. | 0.000542884 | 2008 | BMP4 | 14 | 53951945 | 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:3) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0152427 | amphetamine | D000661 | 300-62-9 | polydactyly | MESH:D017689 | marker/mechanism | 8207770 | ||
| C0152427 | bexarotene | C095105 | - | polydactyly | MESH:D017689 | marker/mechanism | 9006080 | ||
| C0152427 | phenytoin | D010672 | 57-41-0 | polydactyly | MESH:D017689 | marker/mechanism | 9212184 | ||
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.) | |