PedAM
Pediatric Disease Annotations & Medicines
| distal muscular dystrophy | ||||
| Disease ID | 1647 |
|---|---|
| Disease | distal muscular dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1647 |
|---|---|
| Disease | distal muscular dystrophy |
| 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 |
| rs121908457 | 17698502 | 9499 | MYOT | umls:C0751336 | BeFree | Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. | 0.003810118 | 2008 | MYOT;LOC101928005 | 5 | 137870815 | C | T |
| rs121908458 | 19590214 | 9499 | MYOT | umls:C0751336 | BeFree | Lower limb radiology of distal myopathy due to the S60F myotilin mutation. | 0.003810118 | 2009 | MYOT;LOC101928005 | 5 | 137870830 | C | G,T |
| rs150516929 | 20171888 | 1410 | CRYAB | umls:C0751336 | BeFree | The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. | 0.000271442 | 2010 | CRYAB | 11 | 111908832 | 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: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.) | |