eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| muscular atrophy | ||||
| Disease ID | 1071 |
|---|---|
| Disease | muscular atrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1135207 | ataxia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0004093 | weakness | 23 C0587246 | limb weakness | 2 C0853892 | catabolic state | 2 C0027868 | neuromuscular diseases | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116840805 | 17039257 | 5063 | PAK3 | umls:C0026846 | BeFree | Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase in phosphorylated Smad2 (p-Smad2) as well as p21 (also known as Cdkn1a), a myostatin target gene. | 0.000271442 | 2006 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs116840805 | 17039257 | 1026 | CDKN1A | umls:C0026846 | BeFree | Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase in phosphorylated Smad2 (p-Smad2) as well as p21 (also known as Cdkn1a), a myostatin target gene. | 0.000271442 | 2006 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs121912438 | 11555629 | 6647 | SOD1 | umls:C0026846 | BeFree | Transgenic mice overexpressing a mutated form of human SOD1 with a Gly93Ala substitution develop progressive muscle wasting and paralysis as a result of spinal motoneuron loss and die at 5 to 6 months. | 0.122714419 | 2001 | SOD1 | 21 | 31667299 | G | C |
| rs121918551 | 18628786 | 8086 | AAAS | umls:C0026846 | BeFree | Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. | 0.000542884 | 2008 | AAAS | 12 | 53308095 | G | A |
| rs132630304 | 22068590 | 4534 | MTM1 | umls:C0026846 | BeFree | Hemizygous male Mtm1 p.R69C mice develop early muscle atrophy prior to the onset of weakness at 2 months. | 0.000814326 | 2012 | MTM1 | X | 150598660 | C | G,T |
| rs137853305 | 17430991 | 7169 | TPM2 | umls:C0026846 | BeFree | It is suggested that the R133W beta-Tm mutation induces alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin-binding state, resulting in overall muscle weakness in the absence of muscle wasting. | 0.000271442 | 2007 | TPM2 | 9 | 35685529 | G | A |
| rs267607486 | 19005210 | 1674 | DES | umls:C0026846 | BeFree | Here, we examined a desmin mutation, E245D, that is located within the coil IB (nebulin-binding) region of desmin and that has been reported to cause human cardiomyopathy and skeletal muscle atrophy. | 0.000542884 | 2009 | DES | 2 | 219420346 | G | C |
| rs267607486 | 19005210 | 4703 | NEB | umls:C0026846 | BeFree | Here, we examined a desmin mutation, E245D, that is located within the coil IB (nebulin-binding) region of desmin and that has been reported to cause human cardiomyopathy and skeletal muscle atrophy. | 0.000271442 | 2009 | DES | 2 | 219420346 | G | C |
| rs387906738 | 22847149 | 1778 | DYNC1H1 | umls:C0026846 | BeFree | Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. | 0.000271442 | 2012 | DYNC1H1 | 14 | 101980506 | A | G |
| rs57105105 | 22288874 | 4747 | NEFL | umls:C0026846 | BeFree | The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. | 0.000271442 | 2012 | NEFL;MIR6841 | 8 | 24953776 | 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.) |
| Disease ID | 1071 |
|---|---|
| Disease | muscular atrophy |
| Case | (Waiting for update.) |