PedAM
Pediatric Disease Annotations & Medicines
| synostosis | ||||
| Disease ID | 1786 |
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| Disease | synostosis |
| 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:6) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs4647924 | 11424131 | 57492 | ARID1B | umls:C0039093 | BeFree | Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. | 0.000814326 | 2001 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 20643727 | 2263 | FGFR2 | umls:C0039093 | BeFree | Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. | 0.000814326 | 2010 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 9042914 | 2261 | FGFR3 | umls:C0039093 | BeFree | Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. | 0.004624443 | 1997 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 20643727 | 57492 | ARID1B | umls:C0039093 | BeFree | Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. | 0.000814326 | 2010 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 20643727 | 2261 | FGFR3 | umls:C0039093 | BeFree | Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. | 0.004624443 | 2010 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 9580776 | 2261 | FGFR3 | umls:C0039093 | BeFree | Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. | 0.004624443 | 1998 | FGFR3 | 4 | 1801844 | C | G |
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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FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |