eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ataxia | ||||
| Disease ID | 1219 |
|---|---|
| Disease | ataxia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:21) C2700513 | aplastic anemia C2220255 | motor disturbances C1962958 | hematoma C1855534 | logic syndrome C0796110 | w syndrome C0796095 | c syndrome C0752347 | dementia with lewy bodies C0751378 | neurologic signs C0747102 | ovarian failure C0743039 | progressive dementia C0700109 | rigidity C0520966 | incoordination C0423479 | ear symptoms C0239889 | severe headache C0235169 | excitability C0235031 | neurologic symptoms C0085165 | bovine leukosis C0037772 | spastic paraplegia C0029089 | ophthalmoplegia C0026650 | movement disorders C0007760 | cerebellar syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:13) C0743039 | progressive dementia | 4 C0026650 | movement disorders | 3 C0037772 | spastic paraplegia | 3 C0029089 | ophthalmoplegia | 2 C0520966 | incoordination | 2 C0007760 | cerebellar syndrome | 2 C0796095 | c syndrome | 1 C0751378 | neurologic signs | 1 C2220255 | motor disturbances | 1 C0752347 | dementia with lewy bodies | 1 C0042580 | vesicoureteral reflux | 1 C1855534 | logic syndrome | 1 C0235031 | neurologic 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:14) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894107 | 20162437 | 2395 | FXN | umls:C0004134 | BeFree | We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation. | 0.023615443 | 2010 | FXN | 9 | 69064942 | G | C,T |
| rs113994097 | 20153822 | 5428 | POLG | umls:C0004134 | BeFree | In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. | 0.006524536 | 2010 | POLG | 15 | 89323426 | C | G |
| rs11538758 | 19443103 | 5621 | PRNP | umls:C0004134 | BeFree | A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis. | 0.003800186 | 2009 | PRNP | 20 | 4699534 | C | A,T |
| rs119456965 | 21873089 | 64374 | SIL1 | umls:C0004134 | BeFree | In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. | 0.000814326 | 2012 | SIL1 | 5 | 139050960 | G | A |
| rs121908212 | 15210532 | 773 | CACNA1A | umls:C0004134 | BeFree | A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. | 0.142493457 | 2004 | CACNA1A | 19 | 13303877 | G | A |
| rs121908217 | 22527033 | 773 | CACNA1A | umls:C0004134 | BeFree | R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update. | 0.142493457 | 2012 | CACNA1A | 19 | 13308452 | C | T |
| rs121918514 | 15841389 | 5582 | PRKCG | umls:C0004134 | BeFree | Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. | 0.001628651 | 2005 | PRKCG | 19 | 53889705 | G | A |
| rs150886026 | 15790557 | 54840 | APTX | umls:C0004134 | BeFree | The mild presentation allele, APTX-K197Q, associated with ataxia but not oculomotor apraxia, encodes a protein with a mild defect in stability and activity, while enzyme encoded by the atypical presentation allele, APTX-R199H, retained substantial function, consistent with altered and not loss of activity. | 0.013320515 | 2005 | APTX | 9 | 32984805 | C | T |
| rs2307441 | 20153822 | 5428 | POLG | umls:C0004134 | BeFree | In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. | 0.006524536 | 2010 | POLG | 15 | 89318595 | T | C |
| rs28933385 | 20514992 | 3918 | LAMC2 | umls:C0004134 | BeFree | A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia. | 0.001357209 | 2010 | PRNP | 20 | 4699818 | G | A |
| rs28933385 | 20514992 | 5621 | PRNP | umls:C0004134 | BeFree | A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia. | 0.003800186 | 2010 | PRNP | 20 | 4699818 | G | A |
| rs28933385 | 20514992 | 1437 | CSF2 | umls:C0004134 | BeFree | A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia. | 0.001357209 | 2010 | PRNP | 20 | 4699818 | G | A |
| rs387906881 | 24458321 | 9570 | GOSR2 | umls:C0004134 | BeFree | Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. | 0.000542884 | 2013 | GOSR2 | 17 | 46935122 | G | T |
| rs74315402 | 19675240 | 5621 | PRNP | umls:C0004134 | BeFree | Tg(A116V) mice express approximately six times the endogenous levels of PrP, develop progressive ataxia by approximately 140 d, and die by approximately 170 d. Compared with a mouse model of transmissible Creutzfeldt-Jakob disease (CJD), the ataxia of Tg(A116V) mice is more prominent, and the course of disease is more protracted, paralleling that observed in human disease. | 0.003800186 | 2009 | PRNP | 20 | 4699570 | 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 | 1219 |
|---|---|
| Disease | ataxia |
| Case | (Waiting for update.) |