eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cerebellar ataxia | ||||
| Disease ID | 979 |
|---|---|
| Disease | cerebellar ataxia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2315430 | orthostatic tremor C1867923 | posterior column ataxia C1861457 | progressive encephalomyelitis with rigidity C1839611 | n syndrome C0917796 | leber's hereditary optic neuropathy (lhon) C0752303 | urological manifestation C0752166 | bardet-biedl syndrome C0520966 | incoordination C0431401 | gillespie syndrome C0426980 | motor symptoms C0423479 | ear symptoms C0234355 | asynergia C0085292 | stiff-person syndrome C0042024 | incontinence C0027145 | myxedema C0014574 | physeal dysplasia C0007570 | coeliac disease C0004135 | ataxia telangiectasia |
| Text Mined Symptom | (Waiting for update.) |
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:12) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894107 | 9989622 | 2395 | FXN | umls:C0007758 | BeFree | In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. | 0.002638474 | 1999 | FXN | 9 | 69064942 | G | C,T |
| rs11538758 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699534 | C | A,T |
| rs121908221 | 22549042 | 773 | CACNA1A | umls:C0007758 | BeFree | Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively. | 0.013440067 | 2012 | CACNA1A | 19 | 13235637 | A | G |
| rs121908224 | 22549042 | 773 | CACNA1A | umls:C0007758 | BeFree | Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively. | 0.013440067 | 2012 | CACNA1A | 19 | 13235262 | C | T |
| rs142157346 | 9989622 | 2395 | FXN | umls:C0007758 | BeFree | In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. | 0.002638474 | 1999 | FXN | 9 | 69053240 | G | T |
| rs28933385 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699818 | G | A |
| rs386134168 | 16547918 | 5582 | PRKCG | umls:C0007758 | BeFree | We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. | 0.007620235 | 2006 | PRKCG | 19 | 53889901 | T | A,C |
| rs74315401 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699525 | C | T |
| rs74315402 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699570 | C | T |
| rs74315407 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699848 | G | A |
| rs80356710 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699655 | T | G |
| rs80356713 | 11843825 | 22 | ABCB7 | umls:C0007758 | BeFree | X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. | 0.000271442 | 2001 | ABCB7 | X | 75070499 | C | G,A |
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 | 979 |
|---|---|
| Disease | cerebellar ataxia |
| Case | (Waiting for update.) |