PedAM
Pediatric Disease Annotations & Medicines
| charcot-marie-tooth disease | ||||
| Disease ID | 163 |
|---|---|
| Disease | charcot-marie-tooth disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:30) C2364118 | weakness C1335944 | sensory manifestations C0744539 | hand dysfunction C0700361 | distress C0700208 | scoliosis C0520679 | obstructive sleep apnoea C0442874 | neuropathy C0423716 | neuropathic pain C0393814 | tomaculous neuropathy C0158493 | pes cavovarus C0152025 | polyneuropathy C0151313 | sensory neuropathy C0085684 | foot-drop C0042928 | vocal cord paralysis C0040997 | trigeminal neuralgia C0037315 | sleep apnoeas C0035258 | restless legs syndrome C0035229 | respiratory insufficiency C0031117 | peripheral neuropathy C0030552 | paresis C0029124 | optic atrophy C0026846 | muscle atrophy C0023798 | lipoma C0022658 | nephropathy C0022408 | arthropathy C0022361 | jaw cysts C0018378 | acute inflammatory neuropathy C0017668 | focal glomerulosclerosis C0014550 | myoclonic seizures C0003881 | arthrodesis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0442874 | neuropathy | 6 C0004093 | weakness | 4 C0031117 | peripheral neuropathy | 1 C0029124 | optic atrophy | 1 C0152025 | polyneuropathy | 1 C0158493 | pes cavovarus | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:102) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894075 | 12707075 | 54332 | GDAP1 | umls:C0007959 | BeFree | Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. | 0.152818179 | 2003 | GDAP1 | 8 | 74362940 | C | G |
| rs104894078 | NA | 54332 | GDAP1 | umls:C0007959 | CLINVAR | NA | 0.152818179 | NA | GDAP1 | 8 | 74360184 | C | T |
| rs104894078 | 21199105 | 54332 | GDAP1 | umls:C0007959 | BeFree | Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. | 0.152818179 | 2010 | GDAP1 | 8 | 74360184 | C | T |
| rs104894080 | 17039978 | 54332 | GDAP1 | umls:C0007959 | BeFree | We report a homozygous Leu239Phe mutation in the GDAP1 gene in a 39-year-old female with a severe form of mixed axonal and demyelinating Charcot-Marie-Tooth disease. | 0.152818179 | 2006 | GDAP1 | 8 | 74364005 | C | T |
| rs104894080 | 20232219 | 54332 | GDAP1 | umls:C0007959 | BeFree | L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. | 0.152818179 | 2010 | GDAP1 | 8 | 74364005 | C | T |
| rs104894158 | 19244508 | 1959 | EGR2 | umls:C0007959 | BeFree | Here, we describe the engineering and characterization of a mouse carrying the I268N mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins. | 0.007524428 | 2009 | EGR2 | 10 | 62813835 | A | T |
| rs104894159 | 15947997 | 2705 | GJB1 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.203824302 | 2005 | EGR2 | 10 | 62813413 | G | A |
| rs104894159 | 15947997 | 1959 | EGR2 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.007524428 | 2005 | EGR2 | 10 | 62813413 | G | A |
| rs104894161 | 15947997 | 2705 | GJB1 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.203824302 | 2005 | EGR2 | 10 | 62813563 | G | A |
| rs104894161 | 15947997 | 1959 | EGR2 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.007524428 | 2005 | EGR2 | 10 | 62813563 | G | A |
| rs104894345 | 16935933 | 26353 | HSPB8 | umls:C0007959 | BeFree | Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. | 0.125167327 | 2006 | HSPB8 | 12 | 119187080 | G | C,T |
| rs104894345 | NA | 26353 | HSPB8 | umls:C0007959 | CLINVAR | NA | 0.125167327 | NA | HSPB8 | 12 | 119187080 | G | C,T |
| rs104894351 | 16935933 | 26353 | HSPB8 | umls:C0007959 | BeFree | Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. | 0.125167327 | 2006 | HSPB8 | 12 | 119187078 | A | G |
| rs104894351 | NA | 26353 | HSPB8 | umls:C0007959 | CLINVAR | NA | 0.125167327 | NA | HSPB8 | 12 | 119187078 | A | G |
| rs104894617 | 25385046 | 821 | CANX | umls:C0007959 | BeFree | These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system. | 0.000814326 | 2014 | PMP22 | 17 | 15260681 | A | G |
| rs104894617 | 25385046 | 5376 | PMP22 | umls:C0007959 | BeFree | These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system. | 0.18307166 | 2014 | PMP22 | 17 | 15260681 | A | G |
| rs104894617 | 25385046 | 84447 | SYVN1 | umls:C0007959 | BeFree | These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system. | 0.000271442 | 2014 | PMP22 | 17 | 15260681 | A | G |
| rs104894617 | 25385046 | 11079 | RER1 | umls:C0007959 | BeFree | These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system. | 0.000271442 | 2014 | PMP22 | 17 | 15260681 | A | G |
| rs104894619 | 14502374 | 5376 | PMP22 | umls:C0007959 | BeFree | We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene. | 0.18307166 | 2003 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 16437560 | 5376 | PMP22 | umls:C0007959 | BeFree | Taken together, these findings suggest that T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PMP22 function. | 0.18307166 | 2006 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 19067730 | 5376 | PMP22 | umls:C0007959 | BeFree | We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M). | 0.18307166 | 2009 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 21194947 | 5376 | PMP22 | umls:C0007959 | 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. | 0.18307166 | 2011 | PMP22 | 17 | 15231047 | G | A |
| rs104894621 | 19259128 | 5376 | PMP22 | umls:C0007959 | BeFree | Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters. | 0.18307166 | 2009 | PMP22 | 17 | 15239575 | G | A |
| rs104894621 | 15625576 | 5376 | PMP22 | umls:C0007959 | BeFree | De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. | 0.18307166 | 2004 | PMP22 | 17 | 15239575 | G | A |
| rs104894623 | 11920834 | 5376 | PMP22 | umls:C0007959 | BeFree | This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype. | 0.18307166 | 2002 | PMP22 | 17 | 15239591 | C | T,G |
| rs104894706 | 11157804 | 57716 | PRX | umls:C0007959 | BeFree | After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese family which cosegregated with CMT. | 0.009434452 | 2001 | PRX | 19 | 40397766 | G | T,A |
| rs104894822 | 10071100 | 2705 | GJB1 | umls:C0007959 | BeFree | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. | 0.203824302 | 1999 | GJB1 | X | 71224321 | A | G |
| rs104894824 | 10220155 | 2705 | GJB1 | umls:C0007959 | BeFree | Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online. | 0.203824302 | 1999 | GJB1 | X | 71223871 | C | T |
| rs104894826 | 15947997 | 2705 | GJB1 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.203824302 | 2005 | GJB1 | X | 71224114 | T | C |
| rs104894826 | 15947997 | 1959 | EGR2 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.007524428 | 2005 | GJB1 | X | 71224114 | T | C |
| rs113994097 | NA | 5428 | POLG | umls:C0007959 | CLINVAR | NA | 0.120271442 | NA | POLG | 15 | 89323426 | C | G |
| rs116840818 | 9633821 | 2705 | GJB1 | umls:C0007959 | BeFree | One male patient with an early onset CMT had a double Cx32 mutation, Arg22Gln and Val63Ile. | 0.203824302 | 1998 | GJB1 | X | 71223894 | G | A |
| rs119103268 | NA | 9927 | MFN2 | umls:C0007959 | CLINVAR | NA | 0.145112067 | NA | MFN2 | 1 | 11992689 | C | T |
| rs119103268 | 21531138 | 9927 | MFN2 | umls:C0007959 | BeFree | Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. | 0.145112067 | 2011 | MFN2 | 1 | 11992689 | C | T |
| rs119483085 | 22978647 | 10397 | NDRG1 | umls:C0007959 | BeFree | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 0.008815624 | 2012 | NDRG1 | 8 | 133258374 | G | A |
| rs119483085 | 22978647 | 79628 | SH3TC2 | umls:C0007959 | BeFree | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 0.123528744 | 2012 | NDRG1 | 8 | 133258374 | G | A |
| rs121908113 | 18231710 | 54332 | GDAP1 | umls:C0007959 | BeFree | A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. | 0.152818179 | 2008 | GDAP1 | 8 | 74363011 | C | G |
| rs121908160 | NA | 23095 | KIF1B | umls:C0007959 | CLINVAR | NA | 0.142182289 | NA | KIF1B | 1 | 10258602 | A | T |
| rs121909344 | NA | 1639 | DCTN1 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | DCTN1 | 2 | 74366896 | G | A |
| rs121913595 | 11080237 | 4359 | MPZ | umls:C0007959 | BeFree | An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). | 0.303925712 | 2000 | MPZ | 1 | 161306785 | G | T,A |
| rs121913595 | 12948789 | 4359 | MPZ | umls:C0007959 | BeFree | Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene. | 0.303925712 | 2003 | MPZ | 1 | 161306785 | G | T,A |
| rs121913595 | NA | 4359 | MPZ | umls:C0007959 | CLINVAR | NA | 0.303925712 | NA | MPZ | 1 | 161306785 | G | T,A |
| rs121913595 | 25720167 | 4359 | MPZ | umls:C0007959 | BeFree | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype. | 0.303925712 | 2015 | MPZ | 1 | 161306785 | G | T,A |
| rs121913595 | 10071056 | 4359 | MPZ | umls:C0007959 | BeFree | The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. | 0.303925712 | 1999 | MPZ | 1 | 161306785 | G | T,A |
| rs121913597 | 11080237 | 4359 | MPZ | umls:C0007959 | BeFree | An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). | 0.303925712 | 2000 | MPZ | 1 | 161307268 | T | A |
| rs121913597 | NA | 4359 | MPZ | umls:C0007959 | CLINVAR | NA | 0.303925712 | NA | MPZ | 1 | 161307268 | T | A |
| rs121913599 | 12940837 | 4359 | MPZ | umls:C0007959 | BeFree | Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report. | 0.303925712 | 2003 | MPZ | 1 | 161306763 | G | T |
| rs121918052 | NA | 5428 | POLG | umls:C0007959 | CLINVAR | NA | 0.120271442 | NA | POLG;MIR6766 | 15 | 89327006 | C | T,G |
| rs137852667 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68935404 | G | A |
| rs142000963 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156138719 | C | A,T |
| rs145770066 | NA | 81857 | MED25 | umls:C0007959 | CLINVAR | NA | 0.120271442 | NA | MED25;MIR6800 | 19 | 49830790 | C | T |
| rs145770066 | 19290556 | 81857 | MED25 | umls:C0007959 | 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. | 0.120271442 | 2009 | MED25;MIR6800 | 19 | 49830790 | C | T |
| rs199927590 | NA | 1785 | DNM2 | umls:C0007959 | CLINVAR | NA | 0.130877538 | NA | DNM2 | 19 | 10797424 | A | G |
| rs267606621 | NA | 16 | AARS | umls:C0007959 | CLINVAR | NA | 0.121085767 | NA | AARS | 16 | 70268356 | C | T |
| rs267607143 | NA | 59341 | TRPV4 | umls:C0007959 | CLINVAR | NA | 0.241085767 | NA | TRPV4 | 12 | 109798823 | G | A |
| rs267607144 | NA | 59341 | TRPV4 | umls:C0007959 | CLINVAR | NA | 0.241085767 | NA | TRPV4 | 12 | 109800665 | C | T |
| rs267607145 | NA | 59341 | TRPV4 | umls:C0007959 | CLINVAR | NA | 0.241085767 | NA | TRPV4 | 12 | 109798820 | G | A |
| rs267607146 | NA | 59341 | TRPV4 | umls:C0007959 | CLINVAR | NA | 0.241085767 | NA | TRPV4 | 12 | 109800666 | G | A |
| rs281865137 | 10762521 | 1959 | EGR2 | umls:C0007959 | BeFree | The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). | 0.007524428 | 2000 | EGR2 | 10 | 62813496 | C | T |
| rs28928902 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156136951 | C | G,T |
| rs28940291 | 20418531 | 9927 | MFN2 | umls:C0007959 | BeFree | Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. | 0.145112067 | 2010 | MFN2 | 1 | 11992660 | G | A |
| rs29001571 | 20660910 | 3315 | HSPB1 | umls:C0007959 | BeFree | Twenty-one members of a five generation Sardinian family have been studied, including thirteen members affected by peroneal muscular atrophy and proved heterozygous for the known HSP27 R127W mutation. | 0.133440067 | 2010 | HSPB1 | 7 | 76303816 | C | T |
| rs372000714 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68906120 | T | A |
| rs372491511 | 15947997 | 1959 | EGR2 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.007524428 | 2005 | EGR2 | 10 | 62814078 | G | A |
| rs372491511 | 15947997 | 2705 | GJB1 | umls:C0007959 | BeFree | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 0.203824302 | 2005 | EGR2 | 10 | 62814078 | G | A |
| rs373698346 | NA | 23095 | KIF1B | umls:C0007959 | CLINVAR | NA | 0.142182289 | NA | KIF1B | 1 | 10275444 | A | G |
| rs387906738 | NA | 1778 | DYNC1H1 | umls:C0007959 | CLINVAR | NA | 0.121900093 | NA | DYNC1H1 | 14 | 101980506 | A | G |
| rs57318642 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156137203 | C | T |
| rs587777712 | NA | 9639 | ARHGEF10 | umls:C0007959 | CLINVAR | NA | 0.120271442 | NA | ARHGEF10 | 8 | 1882687 | G | C |
| rs587777718 | NA | 4141 | MARS | umls:C0007959 | CLINVAR | NA | 0.12 | NA | MARS;MIR6758 | 12 | 57512849 | C | T |
| rs587781246 | NA | 2705 | GJB1 | umls:C0007959 | CLINVAR | NA | 0.203824302 | NA | GJB1 | X | 71224395 | C | T |
| rs587781248 | NA | 65055 | REEP1 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | REEP1 | 2 | 86217101 | T | C |
| rs587781249 | NA | 23064 | SETX | umls:C0007959 | CLINVAR | NA | 0.12 | NA | SETX | 9 | 132328522 | - | TCA |
| rs587781250 | NA | 3315 | HSPB1 | umls:C0007959 | CLINVAR | NA | 0.133440067 | NA | HSPB1 | 7 | 76303817 | G | T |
| rs587781253 | NA | 1778 | DYNC1H1 | umls:C0007959 | CLINVAR | NA | 0.121900093 | NA | DYNC1H1 | 14 | 101985925 | G | A |
| rs58982919 | 25552649 | 4747 | NEFL | umls:C0007959 | BeFree | Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. | 0.133059004 | 2016 | NEFL | 8 | 24956223 | T | C |
| rs59885338 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156135268 | C | T |
| rs59885338 | 14607793 | 4000 | LMNA | umls:C0007959 | BeFree | Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. | 0.130172833 | 2004 | LMNA | 1 | 156135268 | C | T |
| rs59885338 | 18549403 | 4000 | LMNA | umls:C0007959 | BeFree | Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. | 0.130172833 | 2008 | LMNA | 1 | 156135268 | C | T |
| rs60261494 | NA | 4747 | NEFL | umls:C0007959 | CLINVAR | NA | 0.133059004 | NA | NA | NA | NA | NA | NA |
| rs60864230 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156130658 | G | A,C,T |
| rs62636522 | 16930284 | 4747 | NEFL | umls:C0007959 | BeFree | Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models. | 0.133059004 | 2006 | NEFL | 8 | 24955877 | G | C |
| rs690016543 | NA | 6305 | SBF1 | umls:C0007959 | CLINVAR | NA | 0.120542884 | NA | SBF1 | 22 | 50465006 | C | T |
| rs724159958 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68911496 | T | G |
| rs724159994 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68939660 | AG | - |
| rs730882139 | NA | 3300 | DNAJB2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | DNAJB2 | 2 | 219281772 | G | A |
| rs730882140 | NA | 3300 | DNAJB2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | DNAJB2 | 2 | 219279847 | A | G |
| rs756880678 | NA | 90678 | LRSAM1 | umls:C0007959 | CLINVAR | NA | 0.121085767 | NA | LRSAM1 | 9 | 127501009 | G | A |
| rs756985703 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68934517 | C | A |
| rs781249411 | NA | 4141 | MARS | umls:C0007959 | CLINVAR | NA | 0.12 | NA | MARS | 12 | 57515926 | C | A |
| rs786200930 | NA | 90678 | LRSAM1 | umls:C0007959 | CLINVAR | NA | 0.121085767 | NA | LRSAM1 | 9 | 127502849 | - | GC |
| rs797044801 | NA | 16 | AARS | umls:C0007959 | CLINVAR | NA | 0.121085767 | NA | AARS | 16 | 70254688 | T | G |
| rs797044802 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68908338 | G | T |
| rs797044803 | NA | 3508 | IGHMBP2 | umls:C0007959 | CLINVAR | NA | 0.12 | NA | IGHMBP2 | 11 | 68938355 | G | T |
| rs80338925 | 19272779 | 79628 | SH3TC2 | umls:C0007959 | BeFree | Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations. | 0.123528744 | 2009 | SH3TC2 | 5 | 149027763 | C | T |
| rs80338933 | NA | 79628 | SH3TC2 | umls:C0007959 | CLINVAR | NA | 0.123528744 | NA | SH3TC2 | 5 | 149026872 | G | A |
| rs80338934 | 22978647 | 79628 | SH3TC2 | umls:C0007959 | BeFree | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 0.123528744 | 2012 | SH3TC2 | 5 | 149010272 | G | A |
| rs80338934 | 17470135 | 79628 | SH3TC2 | umls:C0007959 | BeFree | The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. | 0.123528744 | 2007 | SH3TC2 | 5 | 149010272 | G | A |
| rs80338934 | 22978647 | 10397 | NDRG1 | umls:C0007959 | BeFree | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 0.008815624 | 2012 | SH3TC2 | 5 | 149010272 | G | A |
| rs80338957 | 15642860 | 4359 | MPZ | umls:C0007959 | BeFree | A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members. | 0.303925712 | 2005 | SCN4A | 17 | 63957427 | G | A |
| rs80338957 | 15642860 | 6329 | SCN4A | umls:C0007959 | BeFree | A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members. | 0.000271442 | 2005 | SCN4A | 17 | 63957427 | G | A |
| rs80356814 | NA | 4000 | LMNA | umls:C0007959 | CLINVAR | NA | 0.130172833 | NA | LMNA | 1 | 156138697 | C | T |
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:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0007959 | vincristine | D014750 | - | charcot-marie-tooth disease | MESH:D002607 | marker/mechanism | 10519723 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |