eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rippling muscle disease | ||||
| Disease ID | 939 |
|---|---|
| Disease | rippling muscle disease |
| Synonym | rippling muscle disease (disorder) rippling muscle disease, 1 rippling muscle syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1838254 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 820 | CAMP | 3.315 | DISEASES 857 | CAV1 | 1.201 | DISEASES 859 | CAV3 | 7.473 | DISEASES 8476 | CDC42BPA | 3.855 | DISEASES 1180 | CLCN1 | 2.65 | DISEASES 1756 | DMD | 1.878 | DISEASES 1760 | DMPK | 1.908 | DISEASES 8291 | DYSF | 4.719 | DISEASES 2932 | GSK3B | 3.217 | DISEASES 3005 | H1F0 | 1.901 | DISEASES 3055 | HCK | 1.091 | DISEASES 4508 | MT-ATP6 | 2.168 | DISEASES 4914 | NTRK1 | 1.41 | DISEASES 5213 | PFKM | 2.502 | DISEASES 6329 | SCN4A | 2.405 | DISEASES 7273 | TTN | 2.626 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CAV3 | 3p25.3 |
| Disease ID | 939 |
|---|---|
| Disease | rippling muscle disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 939 |
|---|---|
| Disease | rippling muscle disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0423061 | intermittent esotropia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116840778 | 20472890 | 1956 | EGFR | umls:C1853698 | BeFree | Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor. | 0.000271442 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs116840778 | 20472890 | 859 | CAV3 | umls:C1853698 | BeFree | Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor. | 0.245700279 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs116840778 | 20472890 | 4804 | NGFR | umls:C1853698 | BeFree | Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor. | 0.000271442 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs116840789 | 20229577 | 859 | CAV3 | umls:C1853698 | BeFree | Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. | 0.245700279 | 2010 | CAV3;SSUH2 | 3 | 8745547 | G | A,T |
| rs28936685 | 12666119 | 859 | CAV3 | umls:C1853698 | UNIPROT | Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. | 0.245700279 | 2003 | CAV3;SSUH2 | 3 | 8745671 | T | A,C |
| rs28936686 | 12666119 | 859 | CAV3 | umls:C1853698 | UNIPROT | Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. | 0.245700279 | 2003 | CAV3;SSUH2 | 3 | 8745688 | G | A,T |
| rs72546668 | 22245016 | 859 | CAV3 | umls:C1853698 | BeFree | We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. | 0.245700279 | 2012 | CAV3;SSUH2 | 3 | 8745644 | C | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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.) |
| Disease ID | 939 |
|---|---|
| Disease | rippling muscle disease |
| Case | (Waiting for update.) |