All Snps(Total Genotypes:41) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs104894345 | 20858900 | 3315 | HSPB1 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000814326 | 2010 | HSPB8 | 12 | 119187080 | G | C,T |
| rs104894345 | 20858900 | 26353 | HSPB8 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000542884 | 2010 | HSPB8 | 12 | 119187080 | G | C,T |
| rs104894345 | 20858900 | 4287 | ATXN3 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000271442 | 2010 | HSPB8 | 12 | 119187080 | G | C,T |
| rs104894351 | 20858900 | 4287 | ATXN3 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000271442 | 2010 | HSPB8 | 12 | 119187078 | A | G |
| rs104894351 | 20858900 | 26353 | HSPB8 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000542884 | 2010 | HSPB8 | 12 | 119187078 | A | G |
| rs104894351 | 20858900 | 3315 | HSPB1 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000814326 | 2010 | HSPB8 | 12 | 119187078 | A | G |
| rs104894619 | 14502374 | 5376 | PMP22 | umls:C0031117 | BeFree | The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. | 0.129500466 | 2003 | PMP22 | 17 | 15231047 | G | A |
| rs1050450 | 21185702 | 2876 | GPX1 | umls:C0031117 | BeFree | Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus. | 0.120271442 | 2012 | GPX1 | 3 | 49357401 | G | A |
| rs113994095 | 18546343 | 5428 | POLG | umls:C0031117 | BeFree | Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. | 0.120542884 | 2008 | POLG;MIR6766 | 15 | 89327201 | C | T |
| rs113994097 | 18546343 | 5428 | POLG | umls:C0031117 | BeFree | Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. | 0.120542884 | 2008 | POLG | 15 | 89323426 | C | G |
| rs11541796 | 17453626 | 7276 | TTR | umls:C0031117 | BeFree | We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome. | 0.004614512 | 2007 | TTR | 18 | 31593011 | A | G |
| rs116840778 | 20472890 | 859 | CAV3 | umls:C0031117 | BeFree | Our findings are of clinical interest because they might help explain the remarkable differences in the degree of muscle lesions caused by caveolin-3 mutations and also the co-occurrence of peripheral neuropathy in the R26Q caveolinopathy case presented. | 0.000271442 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs116840778 | 20472890 | 4804 | NGFR | umls:C0031117 | BeFree | Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor. | 0.000542884 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs116840778 | 20472890 | 1956 | EGFR | umls:C0031117 | BeFree | Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor. | 0.000814326 | 2010 | CAV3;SSUH2 | 3 | 8733956 | G | A,C |
| rs119103263 | 24862862 | 9927 | MFN2 | umls:C0031117 | BeFree | Mfn2(R94W) heterozygous mice show histopathology and age-dependent open-field test abnormalities, which support a mild peripheral neuropathy. | 0.004353001 | 2014 | MFN2 | 1 | 11992659 | C | T |
| rs121909078 | 23188822 | 7879 | RAB7A | umls:C0031117 | BeFree | Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease. | 0.000271442 | 2013 | RAB7A | 3 | 128806576 | C | T |
| rs121909079 | 23188822 | 7879 | RAB7A | umls:C0031117 | BeFree | Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease. | 0.000271442 | 2013 | RAB7A | 3 | 128807627 | G | A |
| rs121909080 | 23188822 | 7879 | RAB7A | umls:C0031117 | BeFree | Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease. | 0.000271442 | 2013 | RAB7A | 3 | 128807625 | A | C |
| rs121909081 | 23188822 | 7879 | RAB7A | umls:C0031117 | BeFree | Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease. | 0.000271442 | 2013 | RAB7A | 3 | 128807614 | G | C |
| rs121909112 | 23643870 | 3315 | HSPB1 | umls:C0031117 | BeFree | Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies. | 0.000814326 | 2013 | HSPB1 | 7 | 76303855 | C | G |
| rs121913595 | 25720167 | 4359 | MPZ | umls:C0031117 | BeFree | The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. | 0.009434452 | 2015 | MPZ | 1 | 161306785 | G | T,A |
| rs1413239 | 20864405 | 1806 | DPYD | umls:C0031117 | BeFree | Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | 0.120271442 | 2010 | DPYD;DPYD-AS1 | 1 | 97221459 | C | T |
| rs1413239 | 20864405 | 4363 | ABCC1 | umls:C0031117 | BeFree | Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | 0.120271442 | 2010 | DPYD;DPYD-AS1 | 1 | 97221459 | C | T |
| rs141672872 | 20858900 | 3315 | HSPB1 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000814326 | 2010 | ATXN3 | 14 | 92083151 | C | T |
| rs141672872 | 20858900 | 4287 | ATXN3 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000271442 | 2010 | ATXN3 | 14 | 92083151 | C | T |
| rs141672872 | 20858900 | 26353 | HSPB8 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000542884 | 2010 | ATXN3 | 14 | 92083151 | C | T |
| rs1695 | 19223573 | 2950 | GSTP1 | umls:C0031117 | BeFree | Relationship between GSTP1 Ile(105)Val polymorphism and docetaxel-induced peripheral neuropathy: clinical evidence of a role of oxidative stress in taxane toxicity. | 0.12973957 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs17183814 | 19738391 | 6326 | SCN2A | umls:C0031117 | BeFree | Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy. | 0.002638474 | 2009 | SCN2A | 2 | 165295879 | G | A |
| rs28937569 | 20858900 | 3315 | HSPB1 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000814326 | 2010 | HSPB1 | 7 | 76304100 | C | T |
| rs28937569 | 20858900 | 4287 | ATXN3 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000271442 | 2010 | HSPB1 | 7 | 76304100 | C | T |
| rs28937569 | 20858900 | 26353 | HSPB8 | umls:C0031117 | BeFree | The K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1. | 0.000542884 | 2010 | HSPB1 | 7 | 76304100 | C | T |
| rs3887412 | 20864405 | 1806 | DPYD | umls:C0031117 | BeFree | Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | 0.120271442 | 2010 | ABCC1 | 16 | 16081173 | A | T |
| rs3887412 | 20864405 | 4363 | ABCC1 | umls:C0031117 | BeFree | Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | 0.120271442 | 2010 | ABCC1 | 16 | 16081173 | A | T |
| rs397507444 | 23910811 | 4524 | MTHFR | umls:C0031117 | BeFree | We found bilateral peripheral neuropathy, persistent aPL and elevated Lp(a) level and heterozygous A1298C/MTHFR mutation. | 0.120542884 | 2013 | MTHFR | 1 | 11794407 | T | G |
| rs397515323 | 23297365 | 5165 | PDK3 | umls:C0031117 | BeFree | Our findings suggest a reduced pyruvate flux due to R158H mutant PDK3-mediated hyper-phosphorylation of the PDC as the underlying pathogenic cause of peripheral neuropathy. | 0.000271442 | 2013 | PDK3 | X | 24503479 | G | A |
| rs4630 | 21435719 | 2952 | GSTT1 | umls:C0031117 | BeFree | Finally, polymorphism in GSTT1 (rs4630) was associated with a lower frequency of thalidomide-induced peripheral neuropathy (p=0.04). | 0.005005506 | 2011 | NA | NA | NA | NA | NA |
| rs492338 | 24706167 | 9619 | ABCG1 | umls:C0031117 | BeFree | One intronic SNP in ABCG1 (rs492338) surpassed the exploratory significance threshold for an association with PIPN in the Caucasian cohort (p = 0.0008) but not in the non-Caucasian replication group (p = 0.54). | 0.000271442 | 2014 | ABCG1 | 21 | 42281867 | A | G |
| rs74315316 | 19755382 | 2707 | GJB3 | umls:C0031117 | BeFree | The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. | 0.121085767 | 2009 | GJB3;LOC105378643 | 1 | 34784797 | G | A |
| rs74315317 | 19755382 | 2707 | GJB3 | umls:C0031117 | BeFree | The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. | 0.121085767 | 2009 | GJB3;LOC105378643 | 1 | 34785018 | T | A,C |
| rs74315321 | 19755382 | 2707 | GJB3 | umls:C0031117 | BeFree | The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. | 0.121085767 | 2009 | GJB3;LOC105378643 | 1 | 34784887 | G | A,C |
| rs74315401 | 8698234 | 5621 | PRNP | umls:C0031117 | BeFree | Besides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101L) mice suffered from a myopathy and a peripheral neuropathy. | 0.001085767 | 1996 | PRNP | 20 | 4699525 | C | T |
