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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease
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Accession:DOID:10595 term browser browse the term
Definition:A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms:exact_synonym: CMT - Charcot-Marie-Tooth disease;   Charcot Marie Tooth hereditary neuropathy;   Charcot Marie Tooth muscular atrophy;   Charcot Marie Tooth syndrome;   Charcot Marie disease;   Roussy Levy disease;   Roussy Levy hereditary areflexic dystasia;   Roussy Levy syndrome;   hereditary areflexic dystasia;   hereditary areflexic dystasias;   peroneal muscular atrophies;   peroneal muscular atrophy
 primary_id: MESH:D002607
 alt_id: OMIM:180800;   RDO:0000338
 xref: GARD:6034;   NCI:C75467;   OMIM:PS118220
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arf1 ADP-ribosylation factor 1 JBrowse link 10 45,562,700 45,579,214 RGD:8554872
G Arhgef10 Rho guanine nucleotide exchange factor 10 JBrowse link 16 79,725,629 79,817,065 RGD:8554872
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Dctn2 dynactin subunit 2 JBrowse link 7 70,555,953 70,571,433 RGD:8554872
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:8554872
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:11554173
RGD:8554872
G Gan gigaxonin JBrowse link 19 49,692,790 49,746,178 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:1358634
RGD:8554872
RGD:12738398
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Gstt2 glutathione S-transferase, theta 2 JBrowse link 20 13,760,810 13,764,481 RGD:9686084
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:8554872
G Hint1 histidine triad nucleotide binding protein 1 JBrowse link 10 40,208,236 40,211,981 RGD:8554872
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11554173
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ifrd1 interferon-related developmental regulator 1 JBrowse link 6 60,132,025 60,151,354 RGD:8554872
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 RGD:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
RGD:11554173
G Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 RGD:8554872
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:11554173
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:1358513
RGD:8554872
RGD:7240710
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:8554872
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:1358514
RGD:8554872
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
G Nrg1 neuregulin 1 JBrowse link 16 62,969,573 64,065,063 RGD:10449027
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684901
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:1358786
RGD:8554872
RGD:2312445
RGD:11554173
RGD:7240710
RGD:1358560
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Sema5a semaphorin 5A JBrowse link 2 85,377,318 85,808,970 RGD:8554872
G Septin9 septin 9 JBrowse link 10 106,208,308 106,340,747 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:11554173
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:8554872
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:8554872
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205513
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:11554173
RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:8554872
Charcot-Marie-Tooth Disease and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:12738395
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eloc elongin C JBrowse link 5 2,042,991 2,059,357 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738397
RGD:12738396
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:7240710
RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
G Ube2w ubiquitin-conjugating enzyme E2W JBrowse link 5 29,798,845 29,812,777 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma JBrowse link 6 134,804,128 134,941,912 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars1 methionyl-tRNA synthetase 1 JBrowse link 7 70,585,011 70,602,425 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:8554872
RGD:7240710
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3galt2 alpha 1,3-galactosyltransferase 2 JBrowse link 5 146,933,592 146,945,882 RGD:8554872
G Adprhl2 ADP-ribosylhydrolase like 2 JBrowse link 5 144,336,312 144,341,586 RGD:8554872
G Ago1 argonaute RISC component 1 JBrowse link 5 144,444,390 144,479,430 RGD:8554872
G Ago3 argonaute RISC catalytic component 3 JBrowse link 5 144,355,792 144,436,509 RGD:8554872
G Ago4 argonaute RISC component 4 JBrowse link 5 144,501,875 144,557,165 RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:8554872
G Akirin1 akirin 1 JBrowse link 5 141,415,226 141,430,627 RGD:8554872
G Akr1a1 aldo-keto reductase family 1 member A1 JBrowse link 5 135,482,068 135,498,693 RGD:8554872
G Armh1 armadillo-like helical domain containing 1 JBrowse link 5 136,073,056 136,112,344 RGD:8554872
G Artn artemin JBrowse link 5 136,759,717 136,765,036 RGD:8554872
G Atp6v0b ATPase H+ transporting V0 subunit B JBrowse link 5 136,718,352 136,719,868 RGD:8554872
G Azin2 antizyme inhibitor 2 JBrowse link 5 147,120,128 147,148,576 RGD:8554872
G B4galt2 beta-1,4-galactosyltransferase 2 JBrowse link 5 136,707,510 136,717,345 RGD:8554872
G Best4 bestrophin 4 JBrowse link 5 136,013,978 136,017,742 RGD:8554872
G Bmp8a bone morphogenetic protein 8a JBrowse link 5 141,007,462 141,033,511 RGD:8554872
G Btbd19 BTB domain containing 19 JBrowse link 5 135,988,549 135,994,985 RGD:8554872
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 5 140,559,195 140,585,494 RGD:8554872
G Ccdc17 coiled-coil domain containing 17 JBrowse link 5 135,440,276 135,445,794 RGD:8554872
G Ccdc24 coiled-coil domain containing 24 JBrowse link 5 136,691,655 136,707,197 RGD:8554872
G Ccdc30 coiled-coil domain containing 30 JBrowse link 5 138,364,211 138,462,922 RGD:8554872
G Cdc20 cell division cycle 20 JBrowse link 5 137,260,728 137,264,931 RGD:8554872
G Cdca8 cell division cycle associated 8 JBrowse link 5 142,911,310 142,933,536 RGD:8554872
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5
137,383,065
137,652,118
137,458,594
137,670,067
RGD:8554872
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 JBrowse link 5 139,597,731 139,598,622 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Clspn claspin JBrowse link 5 144,577,670 144,617,507 RGD:8554872
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:8554872
G Csmd2 CUB and Sushi multiple domains 2 JBrowse link 5 146,091,167 146,743,436 RGD:8554872
G Ctps1 CTP synthase 1 JBrowse link 5 139,475,934 139,505,065 RGD:8554872
G Dlgap3 DLG associated protein 3 JBrowse link 5 145,234,757 145,304,536 RGD:8554872
G Dmap1 DNA methyltransferase 1-associated protein 1 JBrowse link 5 136,533,791 136,541,795 RGD:8554872
G Dnali1 dynein, axonemal, light intermediate chain 1 JBrowse link 5 143,053,365 143,062,203 RGD:8554872
G Dph2 diphthamide biosynthesis 2 JBrowse link 5 136,723,398 136,726,358 RGD:8554872
G Ebna1bp2 EBNA1 binding protein 2 JBrowse link 5 137,458,692 137,463,255 RGD:8554872
G Edn2 endothelin 2 JBrowse link 5 139,098,472 139,106,396 RGD:8554872
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:8554872
G Elovl1 ELOVL fatty acid elongase 1 JBrowse link 5 137,255,868 137,260,486 RGD:8554872
G Epha10 EPH receptor A10 JBrowse link 5 142,875,171 142,910,537 RGD:8554872
G Eri3 ERI1 exoribonuclease family member 3 JBrowse link 5 136,406,009 136,533,408 RGD:8554872
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Eva1b eva-1 homolog B JBrowse link 5 144,160,026 144,161,421 RGD:8554872
G Exo5 exonuclease 5 JBrowse link 5 139,849,930 139,853,247 RGD:8554872
G Fam183a family with sequence similarity 183 member A JBrowse link 10 44,736,547 44,746,907 RGD:8554872
G Fhl3 four and a half LIM domains 3 JBrowse link 5 142,688,962 142,696,330 RGD:8554872
G Fndc5 fibronectin type III domain containing 5 JBrowse link 5 147,323,240 147,330,266 RGD:8554872
G Foxj3 forkhead box J3 JBrowse link 5 138,587,968 138,676,948 RGD:8554872
G Foxo6 forkhead box O6 JBrowse link 5 139,208,153 139,227,288 RGD:8554872
G Gja4 gap junction protein, alpha 4 JBrowse link 5 145,374,688 145,377,221 RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb5 gap junction protein, beta 5 JBrowse link 5 145,422,034 145,440,558 RGD:8554872
G Gnl2 G protein nucleolar 2 JBrowse link 5 143,027,970 143,053,418 RGD:8554872
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 JBrowse link 5 135,398,926 135,439,772 RGD:8554872
G Grik3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 5 143,500,441 143,715,546 RGD:8554872
G Guca2a guanylate cyclase activator 2A JBrowse link 5 138,685,634 138,687,476 RGD:8554872
G Guca2b guanylate cyclase activator 2B JBrowse link 5 138,695,591 138,697,641 RGD:8554872
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 5 135,860,578 135,870,535 RGD:8554872
G Heyl hes-related family bHLH transcription factor with YRPW motif-like JBrowse link 5 140,923,914 140,940,905 RGD:8554872
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 JBrowse link 5 138,774,501 139,077,403 RGD:8554872
G Hmgb4 high-mobility group box 4 JBrowse link 5 146,445,545 146,446,227 RGD:8554872
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
G Hpcal4 hippocalcin-like 4 JBrowse link 5 140,870,127 140,882,242 RGD:8554872
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like JBrowse link 5 135,675,826 135,677,432 RGD:8554872
G Hyi hydroxypyruvate isomerase JBrowse link 5 137,189,440 137,192,125 RGD:8554872
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ipo13 importin 13 JBrowse link 5 136,728,744 136,749,187 RGD:8554872
G Ipp intracisternal A particle-promoted polypeptide JBrowse link 5 135,351,767 135,390,363 RGD:8554872
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:8554872
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8554872
G Kif2c kinesin family member 2C JBrowse link 5 136,027,923 136,053,268 RGD:8554872
G Klf17 Kruppel-like factor 17 JBrowse link 5 136,602,472 136,610,058 RGD:8554872
G LOC100294508 dyslexia susceptibility 2-like JBrowse link 5 144,779,306 144,872,271 RGD:8554872
G LOC100361083 hypothetical LOC100361083 JBrowse link 5 141,096,801 141,100,963 RGD:8554872
G LOC100912566 UPF0500 protein C1orf216 homolog JBrowse link 5 146,320,693 146,342,159 RGD:8554872
G LOC682102 hypothetical protein LOC682102 JBrowse link 5 146,023,695 146,069,623 RGD:8554872
G Lsm10 LSM10, U7 small nuclear RNA associated JBrowse link 5 144,106,339 144,108,703 RGD:8554872
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Maneal mannosidase, endo-alpha-like JBrowse link 5 142,850,139 142,857,292 RGD:8554872
G Map7d1 MAP7 domain containing 1 JBrowse link 5 144,250,416 144,274,981 RGD:8554872
G Mast2 microtubule associated serine/threonine kinase 2 JBrowse link 5 135,149,336 135,285,337 RGD:8554872
G Meaf6 MYST/Esa1-associated factor 6 JBrowse link 5 143,081,298 143,103,225 RGD:8554872
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
G Mir30c1 microRNA 30c-1 JBrowse link 5 139,699,877 139,699,965 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
G Mrps15 mitochondrial ribosomal protein S15 JBrowse link 5 144,054,452 144,065,045 RGD:8554872
G Mtf1 metal-regulatory transcription factor 1 JBrowse link 5 142,797,340 142,843,896 RGD:8554872
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:8554872
G Mycbp Myc binding protein JBrowse link 5 141,560,192 141,567,399 RGD:8554872
G Mycl MYCL proto-oncogene, bHLH transcription factor JBrowse link 5 140,691,947 140,698,837 RGD:8554872
G Nasp nuclear autoantigenic sperm protein JBrowse link 5 135,446,485 135,472,113 RGD:8554872
G Ncdn neurochondrin JBrowse link 5 144,769,452 144,779,271 RGD:8554872
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 5 141,390,577 141,405,507 RGD:8554872
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8554872
G Nt5c1a 5'-nucleotidase, cytosolic IA JBrowse link 5 140,888,862 140,909,322 RGD:8554872
G Oscp1 organic solute carrier partner 1 JBrowse link 5 144,067,391 144,099,693 RGD:8554872
G Oxct2b 3-oxoacid CoA transferase 2B JBrowse link 5 140,813,957 140,815,711 RGD:8554872
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:8554872
G Pabpc4 poly(A) binding protein, cytoplasmic 4 JBrowse link 5 140,978,893 140,994,732 RGD:8554872
G Phc2 polyhomeotic homolog 2 JBrowse link 5 146,832,552 146,931,444 RGD:8554872
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 5 135,069,972 135,145,633 RGD:8554872
G Plk3 polo-like kinase 3 JBrowse link 5 135,997,725 136,002,900 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pou3f1 POU class 3 homeobox 1 JBrowse link 5 142,643,599 142,646,580 RGD:8554872
G Ppcs phosphopantothenoylcysteine synthetase JBrowse link 5 138,466,298 138,470,108 RGD:8554872
G Ppie peptidylprolyl isomerase E JBrowse link 5 140,822,141 140,835,244 RGD:8554872
G Ppih peptidylprolyl isomerase H JBrowse link 5 138,343,934 138,361,743 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
G Psmb2 proteasome 20S subunit beta 2 JBrowse link 5 144,702,004 144,734,220 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Ptprf protein tyrosine phosphatase, receptor type, F JBrowse link 5 137,036,936 137,112,930 RGD:8554872
G RGD1305347 similar to RIKEN cDNA 2610528J11 JBrowse link 5 137,356,777 137,360,636 RGD:8554872
G RGD1559909 RGD1559909 JBrowse link 5 142,844,079 142,845,116 RGD:8554872
G RGD1560436 similar to hypothetical protein FLJ20508 JBrowse link 5 142,933,619 142,940,807 RGD:8554872
G RGD1564804 similar to chromosome 1 open reading frame 50 JBrowse link 5 138,274,907 138,279,285 RGD:8554872
G Rhbdl2 rhomboid like 2 JBrowse link 5 141,462,579 141,511,893 RGD:8554872
G Rimkla ribosomal modification protein rimK-like family member A JBrowse link 5 138,518,559 138,545,577 RGD:8554872
G Rims3 regulating synaptic membrane exocytosis 3 JBrowse link 5 139,790,395 139,819,014 RGD:8554872
G Rlf rearranged L-myc fusion JBrowse link 5 140,107,144 140,162,698 RGD:8554872
G Rnf19b ring finger protein 19B JBrowse link 5 147,246,032 147,270,892 RGD:8554872
G Rnf220 ring finger protein 220 JBrowse link 5 136,129,457 136,351,752 RGD:8554872
G Rps8 ribosomal protein S8 JBrowse link 5 136,020,941 136,023,511 RGD:8554872
G Rragc Ras-related GTP binding C JBrowse link 5 141,572,536 141,590,784 RGD:8554872
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Scmh1 Scm polycomb group protein homolog 1 JBrowse link 5 139,379,256 139,466,805 RGD:8554872
G Sf3a3 splicing factor 3a, subunit 3 JBrowse link 5 142,702,721 142,722,350 RGD:8554872
G Sfpq splicing factor proline and glutamine rich JBrowse link 5 145,079,803 145,088,517 RGD:8554872
G Sh3d21 SH3 domain containing 21 JBrowse link 5 144,161,881 144,178,161 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Slfnl1 schlafen-like 1 JBrowse link 5 139,467,933 139,473,599 RGD:8554872
G Smap2 small ArfGAP2 JBrowse link 5 139,885,321 139,931,366 RGD:8554872
G Smim12 small integral membrane protein 12 JBrowse link 5 145,311,317 145,315,185 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stk40 serine/threonine kinase 40 JBrowse link 5 144,112,612 144,150,653 RGD:8554872
G Svbp small vasohibin binding protein JBrowse link 5 138,245,639 138,251,353 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tctex1d4 Tctex1 domain containing 4 JBrowse link 5 135,995,128 135,997,807 RGD:8554872
G Tekt2 tektin 2 JBrowse link 5 144,341,955 144,345,500 RGD:8554872
G Tesk2 testis associated actin remodelling kinase 2 JBrowse link 5 135,574,172 135,659,842 RGD:8554872
G Tfap2e transcription factor AP-2 epsilon JBrowse link 5 144,740,950 144,761,787 RGD:8554872
G Thrap3 thyroid hormone receptor associated protein 3 JBrowse link 5 144,178,248 144,221,318 RGD:8554872
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 JBrowse link 5 137,294,544 137,321,116 RGD:8554872
G Tmco2 transmembrane and coiled-coil domains 2 JBrowse link 5 140,019,871 140,024,458 RGD:8554872
G Tmem125 transmembrane protein 125 JBrowse link 5 137,371,825 137,373,229 RGD:8554872
G Tmem35b transmembrane protein 35B JBrowse link 5 145,188,323 145,191,953 RGD:8554872
G Tmem53 transmembrane protein 53 JBrowse link 5 136,112,417 136,127,976 RGD:8554872
G Tmem54 transmembrane protein 54 JBrowse link 5 147,288,700 147,295,191 RGD:8554872
G Tmem69 transmembrane protein 69 JBrowse link 5 135,394,013 135,397,591 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim62 tripartite motif-containing 62 JBrowse link 5 147,068,725 147,099,024 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
G Utp11 UTP11, small subunit processome component JBrowse link 5 142,666,288 142,681,173 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:7240710
RGD:8554872
G Ybx1 Y box binding protein 1 JBrowse link 5 138,319,754 138,336,721 RGD:8554872
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing JBrowse link 5 142,845,265 142,850,110 RGD:8554872
G Zc3h12a zinc finger CCCH type containing 12A JBrowse link 5 143,111,342 143,120,131 RGD:8554872
G Zfp362 zinc finger protein 362 JBrowse link 5 146,951,195 146,985,450 RGD:8554872
G Zfp69 zinc finger protein 69 JBrowse link 5 139,856,457 139,871,896 RGD:8554872
G Zfp691 zinc finger protein 691 JBrowse link 5 138,217,841 138,222,534 RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:8554872
G Zmym1 zinc finger MYM-type containing 1 JBrowse link 5 145,106,518 145,123,869 RGD:8554872
G Zmym4 zinc finger MYM-type containing 4 JBrowse link 5 144,878,212 144,996,431 RGD:8554872
G Zmym6 zinc finger MYM-type containing 6 JBrowse link 5 145,138,667 145,186,285 RGD:8554872
G Zmynd12 zinc finger, MYND-type containing 12 JBrowse link 5 138,470,165 138,505,928 RGD:8554872
G Zscan20 zinc finger and SCAN domain containing 20 JBrowse link 5 146,760,822 146,788,945 RGD:8554872
G Zswim5 zinc finger, SWIM-type containing 5 JBrowse link 5 135,735,825 135,854,525 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb4 G protein subunit beta 4 JBrowse link 2 118,978,965 119,007,877 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Yars1 tyrosyl-tRNA synthetase 1 JBrowse link 5 147,375,350 147,403,578 RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox6a1 cytochrome c oxidase subunit 6A1 JBrowse link 12 47,024,442 47,027,495 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdrt4 CMT1A duplicated region transcript 4 JBrowse link 10 49,368,183 49,400,284 RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:8554872
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 10 50,369,097 50,402,584 RGD:8554872
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:8554872
G LOC102553110 ral guanine nucleotide dissociation stimulator-like JBrowse link 16 12,173,055 12,177,781 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Tekt3 tektin 3 JBrowse link 10 49,472,520 49,506,473 RGD:8554872
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdrt4 CMT1A duplicated region transcript 4 JBrowse link 10 49,368,183 49,400,284 RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 10 50,369,097 50,402,584 RGD:8554872
G LOC102553110 ral guanine nucleotide dissociation stimulator-like JBrowse link 16 12,173,055 12,177,781 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Tekt3 tektin 3 JBrowse link 10 49,472,520 49,506,473 RGD:8554872
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
RGD:7240710
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:7240710
RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease Type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp2 peripheral myelin protein 2 JBrowse link 2 93,827,504 93,831,419 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:8554872
G Ddx19a DEAD-box helicase 19A JBrowse link 19 43,251,510 43,271,865 RGD:8554872
G Ddx19b DEAD-box helicase 19B JBrowse link 19 43,217,199 43,246,196 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Fcsk fucose kinase JBrowse link 19 43,338,146 43,357,826 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Il34 interleukin 34 JBrowse link 19 40,855,537 40,905,007 RGD:8554872
G Khdc4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 2 188,051,657 188,080,280 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 2 187,911,530 187,914,930 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
G Mex3a mex-3 RNA binding family member A JBrowse link 2 187,893,678 187,902,546 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pmf1 polyamine-modulated factor 1 JBrowse link 2 187,751,770 187,771,933 RGD:8554872
G Rab25 RAB25, member RAS oncogene family JBrowse link 2 187,903,301 187,909,398 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rxfp4 relaxin family peptide/INSL5 receptor 4 JBrowse link 2 188,026,531 188,027,685 RGD:8554872
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:8554872
G Sf3b3 splicing factor 3b, subunit 3 JBrowse link 19 43,392,071 43,429,582 RGD:8554872
G Slc25a44 solute carrier family 25, member 44 JBrowse link 2 187,772,013 187,786,829 RGD:8554872
G Ssr2 signal sequence receptor subunit 2 JBrowse link 2 187,951,316 187,960,067 RGD:8554872
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 JBrowse link 19 43,273,251 43,324,265 RGD:8554872
G Tfg trafficking from ER to golgi regulator JBrowse link 11 46,180,189 46,206,723 RGD:13592920
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ubqln4 ubiquilin 4 JBrowse link 2 187,915,701 187,931,035 RGD:8554872
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:7240710
RGD:8554872
RGD:12738406
Charcot-Marie-Tooth disease type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:12738379
RGD:8554872
RGD:11554173
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:1358482
RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim2 tripartite motif-containing 2 JBrowse link 2 183,145,096 183,223,819 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn4 cellular communication network factor 4 JBrowse link 7 107,695,227 107,723,759 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:8554872
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
G Phf20l1 PHD finger protein 20-like 1 JBrowse link 7
7
107,406,948
108,613,731
107,445,219
108,759,741
RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Sla src-like adaptor JBrowse link 7 107,585,055 107,604,950 RGD:8554872
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:8554872
G Tmem71 transmembrane protein 71 JBrowse link 7 107,264,235 107,392,808 RGD:8554872
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738393
RGD:12738391
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:11554173
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:1601409
RGD:11554173
RGD:8554872
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:13592920
Charcot-Marie-Tooth Disease Type 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdk3 pyruvate dehydrogenase kinase 3 JBrowse link X 62,836,131 62,904,114 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2DD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Axonal, Type 2EE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:1601408
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        neuromuscular disease 1522
          Charcot-Marie-Tooth disease 318
            Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
            Charcot-Marie-Tooth Disease and Deafness + 1
            Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
            Charcot-Marie-Tooth Disease, Foot Deformity of 0
            Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
            Charcot-Marie-Tooth disease intermediate type + 185
            Charcot-Marie-Tooth disease type 1 + 12
            Charcot-Marie-Tooth disease type 2 + 62
            Charcot-Marie-Tooth disease type 3 5
            Charcot-Marie-Tooth disease type 4 + 26
            Charcot-Marie-Tooth disease type 5 0
            Charcot-Marie-Tooth disease type 6 + 3
            Charcot-Marie-Tooth disease type 7 0
            Charcot-Marie-Tooth disease type X + 5
            Mixed Polyneuropathy of Early Onset 0
            Palmoplantar Keratoderma, Spastic Paralysis 0
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          neurodegenerative disease 2694
            Nervous System Heredodegenerative Disorders 1720
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
                  Charcot-Marie-Tooth Disease and Deafness + 1
                  Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
                  Charcot-Marie-Tooth Disease, Foot Deformity of 0
                  Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
                  Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
                  Charcot-Marie-Tooth disease intermediate type + 185
                  Charcot-Marie-Tooth disease type 1 + 12
                  Charcot-Marie-Tooth disease type 2 + 62
                  Charcot-Marie-Tooth disease type 3 5
                  Charcot-Marie-Tooth disease type 4 + 26
                  Charcot-Marie-Tooth disease type 5 0
                  Charcot-Marie-Tooth disease type 6 + 3
                  Charcot-Marie-Tooth disease type 7 0
                  Charcot-Marie-Tooth disease type X + 5
                  Mixed Polyneuropathy of Early Onset 0
                  Palmoplantar Keratoderma, Spastic Paralysis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.