PedAM
Pediatric Disease Annotations & Medicines
| congenital myopathy | ||||
| Disease ID | 768 |
|---|---|
| Disease | congenital myopathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002047 | Malignant hyperthermia | 2 HP:0003798 | Nemaline rods | 2 HP:0002650 | Scoliosis | 1 HP:0001249 | Mental retardation | 1 HP:0001270 | Motor retardation | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0003687 | Central nuclei | 1 HP:0003131 | Cystinuria | 1 HP:0003473 | Fatigable weakness | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000602 | Ophthalmoplegia | 1 HP:0003198 | Myopathic changes | 1 HP:0001252 | Hypotonia | 1 HP:0009113 | Diaphragmatic weakness | 1 HP:0001324 | Muscular weakness | 1 HP:0001284 | Areflexia | 1 HP:0002094 | Dyspnea | 1 |
| Disease ID | 768 |
|---|---|
| Disease | congenital myopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 |
| rs121434589 | 15605950 | 4620 | MYH2 | umls:C0270960 | BeFree | A heterozygous mutation, Glu706Lys, in the core of the head of MyHC IIa is associated with a familial congenital myopathy, which, in most instances, has shown mild phenotypic expression in children but progressive course in some adults. | 0.000542884 | 2004 | MYH2;MYHAS | 17 | 10535137 | C | T |
| rs137853306 | 18420702 | 7169 | TPM2 | umls:C0270960 | BeFree | A novel E41K beta-tropomyosin (beta-Tm) mutation, associated with congenital myopathy and muscle weakness, was recently identified in a woman and her daughter. | 0.002442977 | 2008 | TPM2 | 9 | 35689265 | C | T |
| rs28933098 | 15605950 | 4625 | MYH7 | umls:C0270960 | BeFree | A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital myopathy, with large deposits of MyHC I in the subsarcolemmal region of type 1 muscle fibres, Myosin storage myopathy. | 0.000542884 | 2004 | MYH7;MHRT | 14 | 23415021 | G | T,A |
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.) | |