eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| distal myopathy | ||||
| Disease ID | 560 |
|---|---|
| Disease | distal myopathy |
| Definition | A group of genetic degenerative muscle disorders affecting the muscles of the lower arms, hands, lower legs, and feet. |
| Synonym | distal muscular dystrophies distal muscular dystrophy distal muscular dystrophy (disorder) distal myopathies distal myopathies [disease/finding] muscular dystrophies, distal muscular dystrophy, distal myopathies, distal myopathy, distal |
| Orphanet | |
| DOID | |
| UMLS | C0751336 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:50) 58 | ACTA1 | 1.971 | DISEASES 88 | ACTN2 | 2.211 | DISEASES 159 | ADSS | 2.239 | DISEASES 122622 | ADSSL1 | 4.457 | DISEASES 375790 | AGRN | 1.27 | DISEASES 79026 | AHNAK | 2.372 | DISEASES 9140 | ATG12 | 1.474 | DISEASES 9474 | ATG5 | 1.028 | DISEASES 9531 | BAG3 | 2.907 | DISEASES 825 | CAPN3 | 3.896 | DISEASES 859 | CAV3 | 5.196 | DISEASES 1020 | CDK5 | 1.452 | DISEASES 1180 | CLCN1 | 1.696 | DISEASES 1520 | CTSS | 2.013 | DISEASES 1756 | DMD | 4.166 | DISEASES 1798 | DPAGT1 | 1.213 | DISEASES 1837 | DTNA | 1.856 | DISEASES 8291 | DYSF | 6.685 | DISEASES 2010 | EMD | 2.164 | DISEASES 2317 | FLNB | 1.661 | DISEASES 2318 | FLNC | 3.578 | DISEASES 10211 | FLOT1 | 1.804 | DISEASES 10020 | GNE | 7.114 | DISEASES 3679 | ITGA7 | 2.303 | DISEASES 3908 | LAMA2 | 2.015 | DISEASES 11155 | LDB3 | 5.85 | DISEASES 9782 | MATR3 | 5.805 | DISEASES 221938 | MMD2 | 3.102 | DISEASES 4534 | MTM1 | 1.261 | DISEASES 4624 | MYH6 | 2.676 | DISEASES 4625 | MYH7 | 5.525 | DISEASES 4626 | MYH8 | 3.243 | DISEASES 26509 | MYOF | 2.123 | DISEASES 4703 | NEB | 4.198 | DISEASES 5213 | PFKM | 1.548 | DISEASES 57104 | PNPLA2 | 1.02 | DISEASES 374308 | PTCHD3 | 1.611 | DISEASES 284119 | PTRF | 1.755 | DISEASES 6261 | RYR1 | 2.532 | DISEASES 6329 | SCN4A | 1.45 | DISEASES 10011 | SRA1 | 1.455 | DISEASES 23336 | SYNM | 2.571 | DISEASES 84258 | SYT3 | 3.385 | DISEASES 7072 | TIA1 | 3.04 | DISEASES 7135 | TNNI1 | 2.604 | DISEASES 7169 | TPM2 | 2.771 | DISEASES 7170 | TPM3 | 1.423 | DISEASES 7273 | TTN | 4.619 | DISEASES 7402 | UTRN | 1.97 | DISEASES 7415 | VCP | 3.758 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 560 |
|---|---|
| Disease | distal myopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0003198 | Myopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0003805 | Rimmed vacuoles | 42 HP:0001638 | Cardiomyopathy | 4 HP:0003560 | Muscular dystrophy | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 HP:0003715 | Myofibrillar changes | 1 HP:0007354 | Amyotrophic lateral sclerosis | 1 HP:0001324 | Muscular weakness | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0002460 | Weakness of distal muscles | 1 |
| Disease ID | 560 |
|---|---|
| Disease | distal myopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0242422 | parkinsonism |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| Disease ID | 560 |
|---|---|
| Disease | distal myopathy |
| Case | (Waiting for update.) |