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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Charcot-Marie-Tooth disease type 2
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Accession:DOID:0050539 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type II;   Charcot-Marie-Tooth, type 2;   HMSN II;   HMSN type II;   hereditary motor and sensory neuropathy Guadalajara neuronal type;   hereditary motor and sensory neuropathy Okinawa type;   hereditary motor and sensory neuropathy type 2;   hereditary motor and sensory neuropathy type II
 xref: GARD:12431;   ICD9CM:356.0;   ORDO:64746
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:25025039 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27549087 PMID:28492532 PMID:28493438 PMID:29653220 PMID:30124830 PMID:30373780 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18057387 PMID:18585921 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23963299 PMID:24024128 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26282322 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:27868354 PMID:28362824 PMID:28492532 PMID:28832565 PMID:29336362 PMID:29482223 PMID:31372974 PMID:31475473 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368 		JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,251,510...43,271,865
Ensembl chr19:43,217,161...43,275,287 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,217,199...43,246,196
Ensembl chr19:43,217,161...43,275,287 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:8872480 PMID:10732809 PMID:12690580 PMID:16014653 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:21737751 PMID:23279345 PMID:24078732 PMID:24088041 PMID:24604904 PMID:24669931 PMID:25058219 PMID:25168514 PMID:25356970 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28492532 PMID:28594869 PMID:28708278 PMID:29648643 PMID:31985473 PMID:32181591 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:40,855,537...40,905,007
Ensembl chr19:40,855,433...40,904,121 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:188,051,657...188,080,280
Ensembl chr 2:188,052,236...188,080,301 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:18334619 PMID:24033266 PMID:24469107 PMID:25025039 PMID:25741868 PMID:28492532 PMID:29590070 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,911,530...187,914,930
Ensembl chr 2:187,911,533...187,915,596 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:1839274 PMID:1849984 PMID:2007407 PMID:2270059 PMID:2280636 PMID:2526018 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10980552 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:11901143 PMID:11973618 PMID:12015247 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12783988 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14569138 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15148145 PMID:15184648 PMID:15219508 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15832002 PMID:15919811 PMID:15961312 PMID:15965218 PMID:15972724 PMID:15982412 PMID:15998779 PMID:16008174 PMID:16061563 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16478798 PMID:16537768 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16891232 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17469202 PMID:17536044 PMID:17599607 PMID:17612587 PMID:17711925 PMID:17848409 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18035816 PMID:18182166 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18480576 PMID:18502446 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19095983 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19220582 PMID:19318026 PMID:19328042 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19768759 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20092787 PMID:20127487 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20498703 PMID:20576434 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20709679 PMID:20848652 PMID:20886652 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PMID:26602028 PMID:26620845 PMID:26662654 PMID:26752647 PMID:26899768 PMID:26900797 PMID:27000522 PMID:27034135 PMID:27066507 PMID:27153395 PMID:27199538 PMID:27220833 PMID:27234031 PMID:27363342 PMID:27373676 PMID:27374873 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27506821 PMID:27532257 PMID:27534416 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27673727 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841901 PMID:27841971 PMID:27854218 PMID:27876398 PMID:27884249 PMID:27886618 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28125586 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28688748 PMID:28701371 PMID:28785654 PMID:28790152 PMID:28798025 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29047356 PMID:29057633 PMID:29078011 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29211919 PMID:29237675 PMID:29237690 PMID:29250285 PMID:29367541 PMID:29382405 PMID:29432544 PMID:29438482 PMID:29511324 PMID:29676528 PMID:29693488 PMID:29753763 PMID:29770364 PMID:29791652 PMID:29893365 PMID:29907918 PMID:29943882 PMID:29952368 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30083363 PMID:30123186 PMID:30137533 PMID:30165862 PMID:30402260 PMID:30420677 PMID:30453078 PMID:30488537 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30901896 PMID:30954027 PMID:31019283 PMID:31296869 PMID:31303467 PMID:31383942 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31847799 PMID:32004434 PMID:32456328 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:25488817 PMID:25527630 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 PMID:30800049 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,893,678...187,902,546
Ensembl chr 2:187,893,368...187,898,310 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:12601114 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:19909486 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21601224 PMID:21647385 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:22189565 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22556188 PMID:22653593 PMID:22762946 PMID:22851605 PMID:22926664 PMID:22957060 PMID:23147504 PMID:23456260 PMID:23615052 PMID:23733358 PMID:23806086 PMID:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26316991 PMID:26365381 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26752306 PMID:26801520 PMID:26916081 PMID:26930221 PMID:26955893 PMID:26956144 PMID:26968897 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27100445 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30642740 PMID:30882371 PMID:31188717 PMID:32963807 PMID:198122151 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,903,301...187,909,398
Ensembl chr 2:187,903,307...187,909,394 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:188,026,531...188,027,685 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997 		JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,392,071...43,429,582
Ensembl chr19:43,392,085...43,429,580 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,772,013...187,786,829
Ensembl chr 2:187,774,062...187,786,731 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,951,316...187,960,067
Ensembl chr 2:187,951,344...187,960,063 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,273,251...43,324,265
Ensembl chr19:43,274,493...43,290,363 		JBrowse link
G Tfg trafficking from ER to golgi regulator ISS
ISO		 OMIM:118230 | OMIM:604484
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type		 MouseDO
ClinVar		 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,915,701...187,931,035
Ensembl chr 2:187,915,751...187,931,035 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO DNA:missense mutation:cds:p.G327D (human) RGD PMID:21365284 RGD:12738395 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921 		JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C		 OMIM
ClinVar
CTD		 PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:10463355 PMID:11891693 PMID:14755468 PMID:15668982 PMID:18587396 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27066566 PMID:27330106 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 PMID:29770609 PMID:31041394 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC ClinVar
OMIM		 PMID:27040688 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by OMIM:606595		 OMIM
ClinVar		 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18832141 PMID:20178975 PMID:20660910 PMID:20870250 PMID:21611841 PMID:21785432 PMID:21892769 PMID:21983720 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22521462 PMID:22734906 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:24607769 PMID:25025039 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,042,991...2,059,357
Ensembl chr 5:2,042,991...2,059,351 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human)
ClinVar Annotator: match by OMIM:607831		 OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18492089 PMID:18504680 PMID:18991200 PMID:19089472 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21681106 PMID:21753178 PMID:21840889 PMID:21890626 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:25231362 PMID:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28492532, PMID:18492089, PMID:20232219 RGD:12738397, RGD:12738396 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K OMIM
ClinVar		 PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038 		JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:29,798,845...29,812,777 JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
ClinVar Annotator: match by OMIM:608673		 OMIM
ClinVar		 PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
ClinVar Annotator: match by OMIM:613287		 OMIM
ClinVar		 PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26752306 PMID:28492532 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O		 OMIM
ClinVar		 PMID:10862709 PMID:18414213 PMID:21820100 PMID:22847149 PMID:23603762 PMID:23664119 PMID:24033266 PMID:24136616 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25590979 PMID:25700176 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26846447 PMID:27549087 PMID:27754416 PMID:28196890 PMID:28492532 PMID:28554554 PMID:29286531 PMID:29653220 PMID:30122514 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O ClinVar PMID:28492532 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
ClinVar Annotator: match by OMIM:614436		 OMIM
ClinVar		 PMID:3022865 PMID:14985381 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26392352 PMID:26752306 PMID:26900582 PMID:27164712 PMID:27615052 PMID:27686364 PMID:28286897 PMID:28335037 PMID:28492532 PMID:29341362 PMID:30996334 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2Q
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2q		 OMIM
ClinVar		 PMID:23141294 PMID:25326637 PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2S
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
ClinVar Annotator: match by OMIM:616155		 OMIM
ClinVar		 PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:18802676 PMID:19157874 PMID:19158098 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24088041 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26257172 PMID:27450922 PMID:28492532 PMID:29858556 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2t ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668 		JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2T ClinVar
OMIM		 PMID:15464186 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
ClinVar Annotator: match by term: MARS-Related Disorder		 OMIM
ClinVar		 PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V ClinVar
OMIM		 PMID:25741868 PMID:25818867 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2X OMIM
ClinVar		 PMID:17322883 PMID:18079167 PMID:18332254 PMID:18663179 PMID:19105190 PMID:19438933 PMID:20110243 PMID:25299611 PMID:25741868 PMID:26467025 PMID:26556829 PMID:27217339 PMID:28492532 PMID:28554332 PMID:29246610 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z		 OMIM
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:27329773 PMID:27794525 PMID:28135719 PMID:28334961 PMID:28402445 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:32693025 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522 		JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A1
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1		 OMIM
ClinVar		 PMID:9409358 PMID:11389829 PMID:25741868 PMID:28492532 PMID:29590070, PMID:11389829 RGD:12738406 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491 		JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A		 ClinVar
CTD		 PMID:15064763 PMID:16043786 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17296794 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19889647 PMID:20008656 PMID:20350294 PMID:20482598 PMID:20587496 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21840889 PMID:22206013 PMID:22442078 PMID:22492563 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26307494 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27582484 PMID:27863451 PMID:28063088 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:29473246 PMID:30158064 PMID:31188717, PMID:22206013 RGD:12738379 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A		 OMIM
ClinVar		 PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 PMID:15064763 PMID:15136675 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:21987543 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22851605 PMID:22926664 PMID:23806086 PMID:24033266 PMID:24053775 PMID:24088041 PMID:24126688 PMID:24450158 PMID:24473995 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30882371 PMID:31188717 PMID:32963807 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B		 ClinVar
OMIM		 PMID:15549395 PMID:16043786 PMID:16835246 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19812251 PMID:20008656 PMID:20350294 PMID:20482598 PMID:21326314 PMID:21531138 PMID:21715711 PMID:21840889 PMID:22492563 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24803844 PMID:24957169 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26257172 PMID:26307494 PMID:26382835 PMID:26633545 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:30158064 PMID:32214227 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 4:119,572,669...119,626,852 JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:600882
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b		 ClinVar
OMIM		 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 PMID:18272684 PMID:18501189 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:23458836 PMID:24344282 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173 		JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1		 ClinVar
OMIM		 PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11799477 PMID:12032588 PMID:12467734 PMID:12629077 PMID:12649505 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14684700 PMID:14749366 PMID:15140538 PMID:15372542 PMID:15475483 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17347251 PMID:17377071 PMID:17536044 PMID:17711925 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18564364 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21520333 PMID:21632249 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22331516 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25214167 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862, PMID:14607793 RGD:1358482 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar		 PMID:11112660 PMID:25728773 PMID:25741868 PMID:27066567 PMID:28492532 PMID:30039206 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084 		JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
ClinVar Annotator: match by OMIM:601472		 OMIM
ClinVar		 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 PMID:16534118 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:19329989 PMID:21737751 PMID:24088041 PMID:24669931 PMID:25168514 PMID:25326637 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:31173493 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD		 ClinVar
OMIM		 PMID:25741868 PMID:29499166 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023 		JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E
ClinVar Annotator: match by OMIM:607684		 OMIM
ClinVar		 PMID:10841809 PMID:11220745 PMID:12393795 PMID:12477167 PMID:12481988 PMID:12566280 PMID:14733962 PMID:15111691 PMID:16452125 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17620486 PMID:17881652 PMID:19158810 PMID:19286384 PMID:20039262 PMID:21149811 PMID:21168446 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22765307 PMID:23618875 PMID:24078732 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26392352 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:30373780 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737 PMID:9371959 PMID:9712007 PMID:21252112 PMID:21692910 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE		 ClinVar
OMIM		 PMID:20074988 PMID:22508010 PMID:23714749 PMID:24190800 PMID:25129007 PMID:25741868 PMID:25861990 PMID:26437932 PMID:26741492 PMID:27536553 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I
ClinVar Annotator: match by OMIM:607677		 OMIM
ClinVar		 PMID:3467805 PMID:7506095 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:9595994 PMID:10071056 PMID:10214757 PMID:10329755 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11935267 PMID:12207153 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:12953275 PMID:14638973 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15249646 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:20385006 PMID:20461396 PMID:21149811 PMID:22433810 PMID:24053775 PMID:24444136 PMID:25326637 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:27639257 PMID:28286897 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
ClinVar Annotator: match by OMIM:607736		 OMIM
ClinVar		 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:12207153 PMID:12402337 PMID:12911457 PMID:12948789 PMID:12953275 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15326256 PMID:15377707 PMID:16279991 PMID:16775239 PMID:17663472 PMID:18337304 PMID:19629567 PMID:20461396 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R
ClinVar Annotator: match by OMIM:615490		 OMIM
ClinVar		 PMID:23562820 PMID:23806086 PMID:24088041 PMID:25893792 PMID:26257172 PMID:28492532 NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228 		JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y		 OMIM
ClinVar		 PMID:25125609 PMID:25878907 PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w ClinVar
OMIM		 PMID:22930593 PMID:25741868 PMID:26072516 PMID:27353947 PMID:28492532 PMID:29235198 PMID:29790872 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087 		JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:15064763 RGD:1601408 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590		 OMIM
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013 		JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type
ClinVar Annotator: match by OMIM:604484		 OMIM
ClinVar		 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        neuromuscular disease 1766
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth Disease, Type 2A + 2
              Charcot-Marie-Tooth disease axonal type 2C 3
              Charcot-Marie-Tooth disease axonal type 2CC 1
              Charcot-Marie-Tooth disease axonal type 2F 1
              Charcot-Marie-Tooth disease axonal type 2H 0
              Charcot-Marie-Tooth disease axonal type 2K 6
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 1
              Charcot-Marie-Tooth disease axonal type 2O 2
              Charcot-Marie-Tooth disease axonal type 2P 1
              Charcot-Marie-Tooth disease axonal type 2Q 1
              Charcot-Marie-Tooth disease axonal type 2S 1
              Charcot-Marie-Tooth disease axonal type 2T 2
              Charcot-Marie-Tooth disease axonal type 2U 1
              Charcot-Marie-Tooth disease axonal type 2V 1
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2B 3
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 2
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2DD 1
              Charcot-Marie-Tooth disease type 2E 2
              Charcot-Marie-Tooth disease type 2EE 1
              Charcot-Marie-Tooth disease type 2I 1
              Charcot-Marie-Tooth disease type 2J 1
              Charcot-Marie-Tooth disease type 2R 1
              Charcot-Marie-Tooth disease type 2Y 1
              Charcot-Marie-Tooth disease, axonal type 2W 1
              Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
              distal hereditary motor neuronopathy type 2A 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth Disease, Type 2A + 2
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2H 0
                    Charcot-Marie-Tooth disease axonal type 2K 6
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 1
                    Charcot-Marie-Tooth disease axonal type 2O 2
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2S 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 1
                    Charcot-Marie-Tooth disease axonal type 2V 1
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 2
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 2
                    Charcot-Marie-Tooth disease type 2EE 1
                    Charcot-Marie-Tooth disease type 2I 1
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2R 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
                    distal hereditary motor neuronopathy type 2A 1
paths to the root