PedAM
Pediatric Disease Annotations & Medicines
| neuropathy | ||||
| Disease ID | 1240 |
|---|---|
| Disease | neuropathy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:18) C0030193 | pain | 130 C0004093 | weakness | 26 C0426768 | o sign | 16 C1136085 | monoclonal gammopathy | 13 C1393529 | vascular complications | 11 C0085119 | foot ulcers | 9 C0085119 | foot ulceration | 7 C0020649 | hypotension | 6 C0235169 | excitability | 5 C0271672 | diabetic complication | 2 C0240991 | sensory ataxia | 2 C0002766 | analgesia | 2 C0042384 | vasculitides | 1 C0024314 | lymphoproliferative disease | 1 C0522224 | palsy | 1 C0242339 | dyslipidemia | 1 C0013604 | oedema | 1 C0422833 | ent symptoms | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:32) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894078 | 22546700 | 9927 | MFN2 | umls:C0442874 | BeFree | Our two cases show that heterozygous truncation of MFN2, which is silent at least until the sixth decade, when combined with the mild p.R120W GDAP1 variant, leads to a severe neuropathy. | 0.004614512 | 2012 | GDAP1 | 8 | 74360184 | C | T |
| rs104894078 | 22546700 | 54332 | GDAP1 | umls:C0442874 | BeFree | Our two cases show that heterozygous truncation of MFN2, which is silent at least until the sixth decade, when combined with the mild p.R120W GDAP1 variant, leads to a severe neuropathy. | 0.003528744 | 2012 | GDAP1 | 8 | 74360184 | C | T |
| rs104894619 | 21194947 | 5376 | PMP22 | umls:C0442874 | BeFree | Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance. | 0.013300652 | 2011 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 16437560 | 5376 | PMP22 | umls:C0442874 | BeFree | T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. | 0.013300652 | 2006 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 14502374 | 5376 | PMP22 | umls:C0442874 | 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. | 0.013300652 | 2003 | PMP22 | 17 | 15231047 | G | A |
| rs104894621 | 10399754 | 5376 | PMP22 | umls:C0442874 | BeFree | Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. | 0.013300652 | 1999 | PMP22 | 17 | 15239575 | G | A |
| rs116840817 | 12207932 | 2705 | GJB1 | umls:C0442874 | BeFree | A family with a novel S49P mutation in the connexin 32 gene had a neuropathy with very slow nerve conduction. | 0.005700279 | 2002 | GJB1 | X | 71223852 | T | C |
| rs121909113 | 23948568 | 3315 | HSPB1 | umls:C0442874 | BeFree | Some properties of G84R and L99M mutants of HspB1 associated with peripheral distal neuropathies were investigated. | 0.002442977 | 2013 | HSPB1 | 7 | 76303007 | C | A |
| rs121913587 | 21107784 | 4359 | MPZ | umls:C0442874 | BeFree | The Pro132Leu mutation segregates with a severe early-onset dysmyelinating-hypomyelinating neuropathy, whereas the Ile135Thr substitution is associated with the classical phenotype of CMT1. | 0.011129117 | 2011 | MPZ | 1 | 161306752 | A | G |
| rs121913590 | 23250879 | 4359 | MPZ | umls:C0442874 | BeFree | Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. | 0.011129117 | 2012 | MPZ | 1 | 161306864 | G | A |
| rs121913595 | 15094849 | 4359 | MPZ | umls:C0442874 | BeFree | In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. | 0.011129117 | 2004 | MPZ | 1 | 161306785 | G | T,A |
| rs121913602 | 10214757 | 4359 | MPZ | umls:C0442874 | BeFree | Family study revealed that de novo Ile62Phe mutation on the MPZ gene occurred in the proband and was inherited by her children with early onset slowly progressive neuropathy. | 0.011129117 | 1999 | MPZ | 1 | 161307308 | T | A |
| rs121918097 | 25471118 | 7276 | TTR | umls:C0442874 | BeFree | A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report. | 0.005971721 | 2014 | TTR | 18 | 31595137 | G | A |
| rs142616668 | 20979931 | 2950 | GSTP1 | umls:C0442874 | BeFree | Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to the time until onset of neuropathy than to the grade of neuropathy. | 0.000814326 | 2010 | ERCC1;PPP1R13L;CD3EAP | 19 | 45407183 | C | T |
| rs142616668 | 20979931 | 2067 | ERCC1 | umls:C0442874 | BeFree | Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to the time until onset of neuropathy than to the grade of neuropathy. | 0.000542884 | 2010 | ERCC1;PPP1R13L;CD3EAP | 19 | 45407183 | C | T |
| rs145770066 | 19290556 | 81857 | MED25 | umls:C0442874 | BeFree | We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3. | 0.000271442 | 2009 | MED25;MIR6800 | 19 | 49830790 | C | T |
| rs151090729 | 24006052 | 6336 | SCN10A | umls:C0442874 | BeFree | The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability. | 0.000542884 | 2014 | SCN10A | 3 | 38698236 | C | T |
| rs1695 | 20979931 | 2067 | ERCC1 | umls:C0442874 | BeFree | Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to the time until onset of neuropathy than to the grade of neuropathy. | 0.000542884 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23695028 | 2950 | GSTP1 | umls:C0442874 | BeFree | To assess the relationship between GSTP1 gene Ile105Val polymorphism and its susceptibility to oxaliplatin-induced neuropathy, a meta-analysis of previous studies was conducted. | 0.000814326 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20979931 | 2950 | GSTP1 | umls:C0442874 | BeFree | Our results suggest that ERCC1, C118T and GSTP1 Ile105Val polymorphisms are more strongly related to the time until onset of neuropathy than to the grade of neuropathy. | 0.000814326 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1934951 | 25495407 | 2067 | ERCC1 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.000542884 | 2015 | CYP2C8 | 10 | 95038791 | C | T |
| rs1934951 | 25495407 | 1558 | CYP2C8 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.001085767 | 2015 | CYP2C8 | 10 | 95038791 | C | T |
| rs28940291 | 20418531 | 9927 | MFN2 | umls:C0442874 | BeFree | Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. | 0.004614512 | 2010 | MFN2 | 1 | 11992660 | G | A |
| rs3212986 | 25495407 | 1558 | CYP2C8 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.001085767 | 2015 | ERCC1;CD3EAP | 19 | 45409478 | C | A |
| rs3212986 | 25495407 | 2067 | ERCC1 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.000542884 | 2015 | ERCC1;CD3EAP | 19 | 45409478 | C | A |
| rs371856018 | 16844954 | 4359 | MPZ | umls:C0442874 | BeFree | MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs. | 0.011129117 | 2006 | MPZ | 1 | 161307376 | T | C,G |
| rs386580934 | 25495407 | 1558 | CYP2C8 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.001085767 | 2015 | NA | NA | NA | NA | NA |
| rs386580934 | 25495407 | 2067 | ERCC1 | umls:C0442874 | BeFree | Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERCC1 Gln504Lys with neuropathy (p≤0.01). | 0.000542884 | 2015 | NA | NA | NA | NA | NA |
| rs397515442 | 23456260 | 54332 | GDAP1 | umls:C0442874 | BeFree | We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. | 0.003528744 | 2013 | GDAP1 | 8 | 74360194 | A | G |
| rs4986790 | 21628510 | 7099 | TLR4 | umls:C0442874 | BeFree | Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently been identified either as candidate protector genes against DM2 and associated neuropathy or risk alleles for the manifestation of diabetic retinopathy. | 0.000271442 | 2011 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 21628510 | 7099 | TLR4 | umls:C0442874 | BeFree | Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently been identified either as candidate protector genes against DM2 and associated neuropathy or risk alleles for the manifestation of diabetic retinopathy. | 0.000271442 | 2011 | TLR4 | 9 | 117713324 | C | T |
| rs71428908 | 23280954 | 6335 | SCN9A | umls:C0442874 | BeFree | Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons. | 0.001085767 | 2013 | SCN9A | 2 | 166304242 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |