eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| axonal neuropathy | ||||
| Disease ID | 1699 |
|---|---|
| Disease | axonal neuropathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119467003 | 17948061 | 55775 | TDP1 | umls:C0270921 | BeFree | This result provides a direct demonstration that Tdp1 repairs Topo I covalent lesions in vivo and suggests that SCAN1 arises from the recessive neomorphic mutation H493R. | 0.001900093 | 2007 | TDP1 | 14 | 89993420 | A | G |
| rs119467003 | 20687496 | 55775 | TDP1 | umls:C0270921 | BeFree | Spinocerebellar ataxia with axonal neuropathy (SCAN 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene. | 0.001900093 | 2010 | TDP1 | 14 | 89993420 | A | G |
| rs121918312 | 20605452 | 9531 | BAG3 | umls:C0270921 | BeFree | We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. | 0.000271442 | 2010 | BAG3 | 10 | 119672373 | C | A,T |
| rs121918551 | 18628786 | 8086 | AAAS | umls:C0270921 | BeFree | Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. | 0.000271442 | 2008 | AAAS | 12 | 53308095 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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 | 1699 |
|---|---|
| Disease | axonal neuropathy |
| Case | (Waiting for update.) |