eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| muscular dystrophy | ||||
| Disease ID | 330 |
|---|---|
| Disease | muscular dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:35) C2720186 | atrial standstill C2364118 | weakness C2364051 | fatigue C2248595 | dedifferentiation C2242708 | hypertransaminasemia C2186532 | liver disease C1263871 | type i duane's syndrome C0878544 | cardiomyopathy C0750323 | intractable vomiting C0700208 | scoliosis C0684249 | lung carcinoma C0454641 | expressive language delay C0270971 | congenital hypotonia C0263369 | poikiloderma atrophicans vasculare C0238621 | aminoaciduria C0234958 | muscle degeneration C0231230 | fatigability C0154832 | coats' disease C0152020 | gastroparesis C0079299 | eb simplex C0079298 | epidermolysis bullosa simplex C0042961 | volvulus C0035204 | respiratory disease C0033626 | protein deficiencies C0027126 | myotonic dystrophy C0026848 | muscle disease C0026846 | muscle wasting C0022116 | ischaemia C0018801 | heart failure C0018799 | heart diseases C0015732 | fecal incontinence C0013261 | duane's retraction syndrome C0010201 | chronic cough C0007222 | cardiovascular diseases C0007193 | dilated cardiomyopathy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:15) C0878544 | cardiomyopathy | 30 C0007193 | dilated cardiomyopathy | 13 C0004093 | weakness | 13 C0079298 | epidermolysis bullosa simplex | 12 C0036439 | scoliosis | 10 C0018801 | heart failure | 4 C0234958 | muscle degeneration | 3 C0079299 | eb simplex | 2 C0154832 | coats' disease | 1 C0231230 | fatigability | 1 C0022116 | ischaemia | 1 C0878544 | cardiomyopathies | 1 C2242708 | hypertransaminasemia | 1 C0015672 | fatigue | 1 C0026846 | muscle wasting | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116840805 | 18509671 | 859 | CAV3 | umls:C0026850 | BeFree | Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. | 0.006253095 | 2008 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs116840805 | 18509671 | 779 | CACNA1S | umls:C0026850 | BeFree | Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. | 0.000271442 | 2008 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs121908457 | 16684602 | 9499 | MYOT | umls:C0026850 | BeFree | Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. | 0.001357209 | 2006 | MYOT;LOC101928005 | 5 | 137870815 | C | T |
| rs121908458 | 16684602 | 9499 | MYOT | umls:C0026850 | BeFree | Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. | 0.001357209 | 2006 | MYOT;LOC101928005 | 5 | 137870830 | C | G,T |
| rs121909518 | 23155419 | 1674 | DES | umls:C0026850 | BeFree | We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. | 0.000814326 | 2012 | FLNC | 7 | 128858475 | G | A |
| rs121909518 | 23155419 | 2318 | FLNC | umls:C0026850 | BeFree | We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. | 0.000814326 | 2012 | FLNC | 7 | 128858475 | G | A |
| rs1800553 | 18024811 | 24 | ABCA4 | umls:C0026850 | BeFree | Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. | 0.000271442 | 2007 | ABCA4 | 1 | 94008251 | C | T |
| rs199474724 | 22431096 | 4000 | LMNA | umls:C0026850 | BeFree | The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1. | 0.018226332 | 2012 | LMNA | 1 | 156134839 | G | A |
| rs267607545 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156136121 | G | A,T |
| rs28928902 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156136951 | C | G,T |
| rs28936383 | 8968749 | 6443 | SGCB | umls:C0026850 | BeFree | Truncating mutations in the 43 kDa beta-sarcoglycan gene (LGMD 2E) were originally identified in a sporadic case of Duchenne-like muscular dystrophy, and a common missense mutation (T151R) was identified independently in Indiana Amish pedigrees with a milder form of LGMD. | 0.001900093 | 1996 | SGCB | 4 | 52028899 | G | C |
| rs376510500 | 15736300 | 7052 | TGM2 | umls:C0026850 | BeFree | Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well. | 0.000542884 | 2005 | TGM2 | 20 | 38156054 | G | A |
| rs57207746 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156134860 | G | A |
| rs57318642 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156137203 | C | T |
| rs60934003 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156137213 | T | C |
| rs61616775 | 16772334 | 2010 | EMD | umls:C0026850 | BeFree | The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). | 0.005710211 | 2006 | LMNA | 1 | 156135257 | A | C |
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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 330 |
|---|---|
| Disease | muscular dystrophy |
| Case | (Waiting for update.) |