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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

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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 Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:6492094 PMID:7842019 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624746:12,540,969...12,566,989
Ensembl chrNW_004624746:12,540,633...12,567,376 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,441,298...2,451,061
Ensembl chrNW_004624885:2,441,217...2,451,057 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
G Agtrap angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,226,876...1,239,975
Ensembl chrNW_004624818:1,228,175...1,240,059 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,620,741...1,626,704
Ensembl chrNW_004624818:1,619,790...1,626,474 		JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:3,014,853...3,032,920
Ensembl chrNW_004624885:3,014,351...3,022,248 		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:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,314,885...1,362,730
Ensembl chrNW_004624885:1,311,512...1,362,730 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:961,880...1,136,990
Ensembl chrNW_004624885:961,880...1,136,731 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,995,379...3,014,207
Ensembl chrNW_004624885:2,994,020...3,012,995 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,816,591...1,829,971
Ensembl chrNW_004624885:1,820,105...1,832,510 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		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 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:1674639 PMID:5964029 PMID:9536098 PMID:11479539 PMID:11916958 More... NCBI chrNW_004624926:1,189,990...1,197,220
Ensembl chrNW_004624926:1,190,072...1,196,076 		JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,024,553...2,078,708
Ensembl chrNW_004624818:2,024,461...2,076,551 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,575,560...1,592,540
Ensembl chrNW_004624885:1,575,562...1,592,594 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,244,114...2,256,870
Ensembl chrNW_004624818:2,249,369...2,256,834 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,507,462...2,510,842
Ensembl chrNW_004624885:2,507,462...2,510,818 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,151,981...1,184,648
Ensembl chrNW_004624818:1,151,981...1,184,616 		JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,285,116...2,295,959
Ensembl chrNW_004624885:2,284,953...2,296,735 		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 chrNW_004624746:12,715,437...12,747,187
Ensembl chrNW_004624746:12,715,437...12,747,823 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,085,654...2,200,843
Ensembl chrNW_004624819:2,086,512...2,197,951 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,862,911...1,867,656
Ensembl chrNW_004624885:1,862,822...1,867,726 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:114,383...161,010
Ensembl chrNW_004624739:114,342...161,044 		JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,199,994...1,218,489 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,135,770...1,170,447
Ensembl chrNW_004624885:1,137,191...1,170,139 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,451,247...2,465,459
Ensembl chrNW_004624885:2,451,404...2,465,397 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,465,530...2,474,418
Ensembl chrNW_004624885:2,465,636...2,471,722 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624749:29,105,310...29,135,124
Ensembl chrNW_004624749:29,115,561...29,137,276 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624746:12,569,308...12,592,168
Ensembl chrNW_004624746:12,569,331...12,587,821 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,225,777...2,239,897 JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,373,337...1,421,575
Ensembl chrNW_004624818:1,378,009...1,421,687 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:16199547 PMID:22522442 PMID:25274842 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624823:5,730,553...5,737,668
Ensembl chrNW_004624823:5,730,386...5,738,459 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,377,850...2,378,390
Ensembl chrNW_004624885:2,377,880...2,378,390 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,253,968...1,274,418
Ensembl chrNW_004624818:1,256,169...1,263,904 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,382,712...2,388,805
Ensembl chrNW_004624885:2,383,045...2,389,107 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,420,610...2,428,048
Ensembl chrNW_004624885:2,421,467...2,428,011 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,436,629...2,440,196
Ensembl chrNW_004624885:2,436,535...2,440,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,301,637...2,307,839
Ensembl chrNW_004624885:2,302,530...2,307,299 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,699,729...1,722,999
Ensembl chrNW_004624818:1,699,744...1,725,343 		JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,300,191...1,311,245
Ensembl chrNW_004624818:1,299,067...1,309,667 		JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,286,819...1,292,565
Ensembl chrNW_004624818:1,286,820...1,292,755 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624746:12,695,007...12,715,173
Ensembl chrNW_004624746:12,694,660...12,714,574 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:942,998...949,529
Ensembl chrNW_004624885:943,571...949,528 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:770,775...791,251
Ensembl chrNW_004624739:770,808...781,949 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,496,448...2,503,277
Ensembl chrNW_004624885:2,496,448...2,503,180 		JBrowse link
G Gars1 glycyl-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 Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chrNW_004624739:172,111...211,229
Ensembl chrNW_004624739:171,777...211,164 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327 		JBrowse link
G Ggct gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:260,777...271,460
Ensembl chrNW_004624739:217,223...274,710 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624783:200,935...214,453
Ensembl chrNW_004624783:200,940...214,373 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,568,096...1,571,001
Ensembl chrNW_004624885:1,568,551...1,570,924 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,179,033...1,246,592 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,783,892...1,793,074 JBrowse link
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:3,025,323...3,052,486
Ensembl chrNW_004624818:3,025,252...3,051,260 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,799,303...1,805,977
Ensembl chrNW_004624885:1,798,904...1,805,318 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362 		JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,271,991...2,281,575
Ensembl chrNW_004624885:2,272,935...2,281,588 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,900,835...1,910,886 JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chrNW_004624759:4,933,086...4,933,828
Ensembl chrNW_004624759:4,933,197...4,933,655 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624746:12,793,797...12,867,591
Ensembl chrNW_004624746:12,861,018...12,867,587 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624783:17,712...22,867
Ensembl chrNW_004624783:17,084...20,921 		JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,730,079...1,765,250
Ensembl chrNW_004624885:1,730,771...1,765,180 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,878,939...1,885,743
Ensembl chrNW_004624885:1,874,331...1,885,001 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,597,605...2,731,598
Ensembl chrNW_004624885:2,597,466...2,726,363 		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:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,285,461...1,306,207
Ensembl chrNW_004624885:1,285,465...1,306,193 		JBrowse link
G Kiaa2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,096,493...1,102,788
Ensembl chrNW_004624818:1,095,993...1,105,296 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 More... NCBI chrNW_004624847:4,961,552...5,035,125
Ensembl chrNW_004624847:4,961,552...5,035,061 		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 Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18334619 PMID:18726616 More... NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20386726 PMID:25008398 PMID:25741868 PMID:29892902 NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,354,759...2,358,135
Ensembl chrNW_004624885:2,354,684...2,358,135 		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:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,399,235...1,403,669
Ensembl chrNW_004624885:1,398,505...1,403,789 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,495,400...2,496,273
Ensembl chrNW_004624885:2,492,525...2,503,465 		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 Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2		 ClinVar PMID:262236 PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G LOC101724106 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624926:1,177,498...1,178,171
Ensembl chrNW_004624926:1,177,499...1,178,168 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624926:1,187,387...1,189,533
Ensembl chrNW_004624926:1,187,267...1,197,120 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 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:28492532 NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,591,415...2,605,914
Ensembl chrNW_004624818:2,591,508...2,606,016 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,274,553...1,286,750
Ensembl chrNW_004624818:1,282,082...1,286,997 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,745,401...1,759,051 JBrowse link
G Med25 mediator complex subunit 25 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:9536098 PMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 More... NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,685,423...1,714,462
Ensembl chrNW_004624885:1,687,572...1,714,238 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,885,437...1,893,406
Ensembl chrNW_004624885:1,885,144...1,894,464 		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:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,412,031...1,422,297
Ensembl chrNW_004624885:1,416,288...1,421,277 		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:9536098 PMID:10732809 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,027,152...1,035,536
Ensembl chrNW_004624818:1,027,315...1,033,936 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624783:30,259...146,524
Ensembl chrNW_004624783:30,277...146,184 		JBrowse link
G Mir9-1hg MIR9-1 host gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,640,869...1,665,272 JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 PMID:33144514 NCBI chrNW_004624730:32,601,835...32,691,368
Ensembl chrNW_004624730:32,601,488...32,689,080 		JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,893,771...1,899,244
Ensembl chrNW_004624885:1,893,771...1,899,617 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,175,433...1,179,526
Ensembl chrNW_004624885:1,175,492...1,179,456 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624746:12,868,006...12,887,616
Ensembl chrNW_004624746:12,867,679...12,887,578 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:626,141...649,791
Ensembl chrNW_004624739:626,141...650,645 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,321,324...2,327,518 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,780,894...1,783,288
Ensembl chrNW_004624885:1,780,882...1,783,242 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,837,614...1,845,029
Ensembl chrNW_004624885:1,837,926...1,844,895 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,575,476...2,591,423
Ensembl chrNW_004624818:2,573,498...2,580,095 		JBrowse link
G Nod1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:285,791...339,752
Ensembl chrNW_004624739:285,689...341,956 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,147,654...1,149,722
Ensembl chrNW_004624818:1,147,974...1,148,927 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,526,072...2,535,618
Ensembl chrNW_004624885:2,528,222...2,535,795 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,082,709...2,224,235
Ensembl chrNW_004624818:2,082,709...2,224,899 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,261,658...2,274,878
Ensembl chrNW_004624818:2,261,940...2,274,723 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,261,850...2,272,175
Ensembl chrNW_004624885:2,264,928...2,272,171 		JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:692,511...769,161 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 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:25741868 PMID:28492532 NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,544,136...2,552,591
Ensembl chrNW_004624885:2,543,862...2,553,237 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,925,712...1,948,275
Ensembl chrNW_004624885:1,925,029...1,949,099 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,521,230...2,525,449
Ensembl chrNW_004624885:2,521,368...2,525,449 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,404,922...1,411,427
Ensembl chrNW_004624885:1,404,845...1,411,627 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chrNW_004625042:56,509...112,519
Ensembl chrNW_004625042:56,517...112,612 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,616,331...1,628,349
Ensembl chrNW_004624885:1,616,060...1,628,933 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:949,542...957,142 JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,309,418...1,312,004 JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,296,409...2,301,456
Ensembl chrNW_004624885:2,296,429...2,301,452 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,470,666...1,493,634
Ensembl chrNW_004624885:1,470,525...1,495,369 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chrNW_004624760:3,932,213...4,007,290
Ensembl chrNW_004624760:3,955,494...4,007,610 		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 chrNW_004624746:12,747,346...12,793,639
Ensembl chrNW_004624746:12,747,382...12,793,643 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,511,039...2,520,883
Ensembl chrNW_004624885:2,511,240...2,521,155 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,886,584...2,904,953 JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,838,700...2,868,672
Ensembl chrNW_004624818:2,835,649...2,868,692 		JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,500,837...1,517,481
Ensembl chrNW_004624885:1,500,255...1,517,481 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,379,489...2,381,921
Ensembl chrNW_004624885:2,379,489...2,381,918 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chrNW_004624749:11,347,602...11,371,113
Ensembl chrNW_004624749:11,347,609...11,371,330 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,532,101...1,565,811
Ensembl chrNW_004624885:1,532,101...1,560,307 		JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,965,222...3,014,544
Ensembl chrNW_004624818:2,964,984...2,983,433 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,725,614...1,729,374
Ensembl chrNW_004624818:1,725,480...1,732,186 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,365,651...1,372,778
Ensembl chrNW_004624885:1,364,563...1,372,466 		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 chrNW_004624746:12,623,966...12,680,430
Ensembl chrNW_004624746:12,623,730...12,680,436 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,246,768...1,266,418
Ensembl chrNW_004624885:1,246,719...1,266,420 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,759,496...1,789,806
Ensembl chrNW_004624818:1,759,497...1,789,813 		JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
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:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chrNW_004624789:14,330,290...14,381,857
Ensembl chrNW_004624789:14,330,196...14,381,857 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,327,427...2,337,460
Ensembl chrNW_004624885:2,327,459...2,340,338 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,817,083...2,835,468
Ensembl chrNW_004624818:2,816,845...2,835,524 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,562,031...1,567,882
Ensembl chrNW_004624885:1,562,092...1,567,303 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:957,597...996,565 JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:3,109,360...3,139,664
Ensembl chrNW_004624885:3,109,436...3,139,789 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,344,250...2,354,390
Ensembl chrNW_004624885:2,343,991...2,354,288 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,768,702...1,777,349 JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:3,043,328...3,089,657
Ensembl chrNW_004624885:3,043,328...3,089,664 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,857,819...2,865,891
Ensembl chrNW_004624885:2,857,442...2,867,056 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:2,448,809...2,561,947
Ensembl chrNW_004624818:2,447,368...2,562,128 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:1,555,751...1,565,281
Ensembl chrNW_004624818:1,554,084...1,565,383 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004624885:1,382,302...1,398,474
Ensembl chrNW_004624885:1,383,897...1,398,484 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624926:1,179,498...1,182,445
Ensembl chrNW_004624926:1,179,584...1,182,180 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624746:12,889,010...12,992,318
Ensembl chrNW_004624746:12,888,208...12,992,397 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624818:632,276...885,450
Ensembl chrNW_004624818:632,278...885,445 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004624885:2,474,427...2,489,024
Ensembl chrNW_004624885:2,475,727...2,489,030 		JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004624739:360,118...497,626
Ensembl chrNW_004624739:385,359...497,597 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chrNW_004624774:7,798,407...7,849,840
Ensembl chrNW_004624774:7,798,369...7,850,056 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A OMIM
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chrNW_004624747:14,383,600...14,397,440
Ensembl chrNW_004624747:14,383,421...14,397,528 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		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 chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C OMIM
ClinVar		 PMID:956253 PMID:1520078 PMID:2046044 PMID:2128891 PMID:4056805 More... NCBI chrNW_004624747:10,675,625...10,685,351 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 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition OMIM
ClinVar		 PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 More... NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554 		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 axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder OMIM
ClinVar		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2FF term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF OMIM
ClinVar		 PMID:25741868 PMID:33889941 NCBI chrNW_004624794:2,125,741...2,154,346
Ensembl chrNW_004624794:2,125,821...2,154,557 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition OMIM
ClinVar		 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16606917 PMID:17576681 More... NCBI chrNW_004624804:31,489...105,944
Ensembl chrNW_004624804:31,495...105,949 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2JJ term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ ClinVar
OMIM		 PMID:28754666 PMID:31853710 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		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 Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004624801:5,844,824...5,867,439
Ensembl chrNW_004624801:5,846,729...5,867,427 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731 		JBrowse link
G Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chrNW_004624744:17,270,861...17,299,541
Ensembl chrNW_004624744:17,270,476...17,299,029 		JBrowse link
G Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | 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 OMIM
ClinVar		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K OMIM
ClinVar		 PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chrNW_004624744:16,937,138...17,013,765
Ensembl chrNW_004624744:16,937,092...17,013,862 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chrNW_004624744:17,209,285...17,241,347
Ensembl chrNW_004624744:17,208,990...17,241,347 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chrNW_004624744:17,256,749...17,265,507
Ensembl chrNW_004624744:17,259,245...17,266,115 		JBrowse link
G Ube2w ubiquitin conjugating enzyme E2 W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chrNW_004624744:17,314,249...17,485,193
Ensembl chrNW_004624744:17,328,604...17,407,817 		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 axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar		 PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chrNW_004624747:14,383,600...14,397,440
Ensembl chrNW_004624747:14,383,421...14,397,528 		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 disease axonal type 2N OMIM
ClinVar		 PMID:7842019 PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 More... NCBI chrNW_004624746:12,540,969...12,566,989
Ensembl chrNW_004624746:12,540,633...12,567,376 		JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N ClinVar PMID:21494555 PMID:28492532 NCBI chrNW_004624767:22,567,888...22,610,214
Ensembl chrNW_004624767:22,567,757...22,609,115 		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 Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:536,109...552,406
Ensembl chrNW_004624734:535,101...552,535 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:1,720,119...1,725,042
Ensembl chrNW_004624734:1,720,216...1,725,045 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,011,038...2,013,055
Ensembl chrNW_004624734:2,011,085...2,012,998 		JBrowse link
G Apopt1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,295,053...1,315,620
Ensembl chrNW_004624734:1,293,851...1,315,454 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:932,877...950,509
Ensembl chrNW_004624734:931,946...950,553 		JBrowse link
G Atp5mj ATP synthase membrane subunit j ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,073,059...1,077,552 JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,315,052...1,320,627 JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:213,536...280,816
Ensembl chrNW_004624734:213,895...279,777 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:255,182...257,494
Ensembl chrNW_004624734:255,564...257,375 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,624,001...1,718,427
Ensembl chrNW_004624734:1,623,956...1,722,309 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:375,351...390,595
Ensembl chrNW_004624734:383,667...389,554 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:442,432...466,891
Ensembl chrNW_004624734:441,815...464,966 		JBrowse link
G Cinp cyclin dependent kinase 2 interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,091,320...2,097,200
Ensembl chrNW_004624734:2,091,369...2,097,200 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,346,056...1,349,383
Ensembl chrNW_004624734:1,346,510...1,349,383 		JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:394,718...401,828
Ensembl chrNW_004624734:394,627...401,296 		JBrowse link
G CUNH14orf180 chromosome unknown C14orf180 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:636,582...643,656 JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O OMIM
ClinVar		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:16565160 More... NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,501,684...1,509,686 JBrowse link
G Exoc3l4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,583,279...1,594,719
Ensembl chrNW_004624734:1,583,605...1,590,340 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:351,220...374,603 JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,233,932...2,239,687
Ensembl chrNW_004624734:2,233,547...2,241,436 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:555,188...577,930
Ensembl chrNW_004624734:558,043...567,837 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:308,371...327,496
Ensembl chrNW_004624734:308,375...327,604 		JBrowse link
G Kif26a kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:884,922...917,393
Ensembl chrNW_004624734:885,863...915,403 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,221,531...1,275,002
Ensembl chrNW_004624734:1,219,270...1,266,754 		JBrowse link
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,362,263...1,469,930 JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,130,590...2,145,525 JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:288,223...304,136
Ensembl chrNW_004624734:298,357...304,048 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:125,190...184,690
Ensembl chrNW_004624734:125,190...184,756 		JBrowse link
G Pld4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:432,069...439,078
Ensembl chrNW_004624734:431,956...438,170 		JBrowse link
G Ppp1r13b protein phosphatase 1 regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,121,966...1,205,654
Ensembl chrNW_004624734:1,121,908...1,205,736 		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:25817843 PMID:28492532 NCBI chrNW_004624734:2,337,649...2,471,319
Ensembl chrNW_004624734:2,335,243...2,470,811 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:1,866,886...1,972,685
Ensembl chrNW_004624734:1,866,830...1,972,986 		JBrowse link
G Rd3l RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,057,077...1,058,025 JBrowse link
G Siva1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:530,711...535,281 JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:971,174...1,067,178
Ensembl chrNW_004624734:971,695...1,067,121 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,015,255...2,091,692
Ensembl chrNW_004624734:2,018,362...2,083,122 		JBrowse link
G Tmem179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:627,163...636,636
Ensembl chrNW_004624734:627,061...639,095 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,563,274...1,575,884
Ensembl chrNW_004624734:1,563,176...1,572,848 		JBrowse link
G Traf3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:1,728,353...1,820,345
Ensembl chrNW_004624734:1,728,255...1,786,010 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,335,946...1,342,253
Ensembl chrNW_004624734:1,335,091...1,344,714 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,145,812...2,205,365
Ensembl chrNW_004624734:2,146,404...2,205,324 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,216,641...1,223,860
Ensembl chrNW_004624734:1,217,549...1,223,280 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:500,804...503,860 JBrowse link
G Zfyve21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004624734:1,205,742...1,216,398
Ensembl chrNW_004624734:1,206,218...1,216,508 		JBrowse link
G Znf839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chrNW_004624734:2,097,197...2,112,453 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 Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P OMIM
ClinVar		 PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972 		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 NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q OMIM
ClinVar		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chrNW_004624805:4,814,444...4,871,097
Ensembl chrNW_004624805:4,814,546...4,869,359 		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 NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chrNW_004624767:18,038,559...18,065,745
Ensembl chrNW_004624767:18,036,650...18,065,742 		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 chrNW_004624823:5,730,553...5,737,668
Ensembl chrNW_004624823:5,730,386...5,738,459 		JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition OMIM
ClinVar		 PMID:15464186 PMID:16199547 PMID:24033266 PMID:25565308 PMID:25741868 More... NCBI chrNW_004624730:32,601,835...32,691,368
Ensembl chrNW_004624730:32,601,488...32,689,080 		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 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,205,376...10,219,977
Ensembl chrNW_004624802:10,205,375...10,218,288 		JBrowse link
G Apof apolipoprotein F ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,640,942...11,645,030 JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589 NCBI chrNW_004624802:10,461,014...10,483,148
Ensembl chrNW_004624802:10,475,609...10,483,043 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,344,993...10,353,166
Ensembl chrNW_004624802:10,346,240...10,353,383 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,400,288...11,408,785
Ensembl chrNW_004624802:11,399,474...11,409,700 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,329,295...10,337,205
Ensembl chrNW_004624802:10,329,296...10,337,283 		JBrowse link
G Baz2a bromodomain adjacent to zinc finger domain 2A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,410,424...11,448,810 JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,412,466...10,429,354 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,437,998...10,443,278 JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,353,488...10,359,690
Ensembl chrNW_004624802:10,354,077...10,359,769 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,163,086...10,171,665
Ensembl chrNW_004624802:10,164,844...10,171,639 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609 		JBrowse link
G Gls2 glutaminase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,545,196...11,559,851
Ensembl chrNW_004624802:11,545,142...11,561,942 		JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,936,114...10,939,614
Ensembl chrNW_004624802:10,936,619...10,939,603 		JBrowse link
G Hsd17b6 hydroxysteroid 17-beta dehydrogenase 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,125,544...11,162,914
Ensembl chrNW_004624802:11,115,928...11,162,174 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,503,431...10,517,383
Ensembl chrNW_004624802:10,501,502...10,518,188 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,497,618...10,499,433
Ensembl chrNW_004624802:10,493,576...10,499,565 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,184,438...10,188,633 JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chrNW_004624802:10,443,216...10,460,971
Ensembl chrNW_004624802:10,443,223...10,460,971 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,428,782...10,437,992
Ensembl chrNW_004624802:10,428,782...10,437,777 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,172,092...10,175,534
Ensembl chrNW_004624802:10,172,072...10,177,186 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,600,405...11,603,502
Ensembl chrNW_004624802:11,600,405...11,603,502 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,892,685...10,913,953
Ensembl chrNW_004624802:10,892,774...10,913,952 		JBrowse link
G Nab2 NGFI-A binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,847,728...10,852,002
Ensembl chrNW_004624802:10,847,394...10,852,963 		JBrowse link
G Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,710,174...10,713,263
Ensembl chrNW_004624802:10,710,834...10,713,094 		JBrowse link
G Nemp1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,862,929...10,886,843
Ensembl chrNW_004624802:10,862,752...10,889,597 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,722,011...10,731,569
Ensembl chrNW_004624802:10,722,548...10,731,500 		JBrowse link
G Os9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,221,633...10,252,008
Ensembl chrNW_004624802:10,222,259...10,252,039 		JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,668,977...11,686,840
Ensembl chrNW_004624802:11,669,908...11,686,122 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,359,891...10,370,931
Ensembl chrNW_004624802:10,359,888...10,370,909 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 More... NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,288,654...11,312,401
Ensembl chrNW_004624802:11,289,391...11,316,958 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,360,056...11,392,911
Ensembl chrNW_004624802:11,360,041...11,395,390 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,522,075...10,694,396 JBrowse link
G Rbms2 RNA binding motif single stranded interacting protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,430,464...11,523,948
Ensembl chrNW_004624802:11,451,973...11,523,088 		JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,008,727...11,020,651
Ensembl chrNW_004624802:11,008,800...11,019,788 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,713,276...10,718,391
Ensembl chrNW_004624802:10,713,276...10,719,253 		JBrowse link
G Spryd4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,559,817...11,561,852
Ensembl chrNW_004624802:11,559,820...11,561,942 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,694,539...10,704,320
Ensembl chrNW_004624802:10,695,870...10,704,334 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,645,851...11,662,812
Ensembl chrNW_004624802:11,648,020...11,660,216 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,918,968...10,924,512
Ensembl chrNW_004624802:10,918,489...10,924,616 		JBrowse link
G Timeless timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:11,605,116...11,629,911 JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,154,581...10,165,614
Ensembl chrNW_004624802:10,153,124...10,165,614 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,194,588...10,197,401
Ensembl chrNW_004624802:10,194,588...10,197,376 		JBrowse link
G Zbtb39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chrNW_004624802:10,927,858...10,935,353
Ensembl chrNW_004624802:10,927,936...10,935,353 		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, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chrNW_004624795:1,553,582...1,558,110
Ensembl chrNW_004624795:1,553,037...1,558,197 		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 NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chrNW_004624804:11,569,024...11,672,037
Ensembl chrNW_004624804:11,569,150...11,670,373 		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:9536098 PMID:12601114 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624747:7,386,052...7,426,257
Ensembl chrNW_004624747:7,384,270...7,426,285 		JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat2 diacylglycerol O-acyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 ClinVar NCBI chrNW_004624817:1,386,876...1,418,129
Ensembl chrNW_004624817:1,386,764...1,418,300 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1 OMIM
ClinVar		 PMID:9409358 PMID:9536098 PMID:11389829 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 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 type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chrNW_004624772:12,099,523...12,127,437
Ensembl chrNW_004624772:12,099,435...12,127,737 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chrNW_004624805:4,814,444...4,871,097
Ensembl chrNW_004624805:4,814,546...4,869,359 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: HMSN IIA2 ClinVar PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		JBrowse link
Charcot-Marie-Tooth disease type 2A2A 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, AUTOSOMAL DOMINANT, TYPE 2A2A ClinVar PMID:23141293 PMID:25326637 PMID:25741868 PMID:25860818 PMID:26141459 More... NCBI chrNW_004624805:4,814,444...4,871,097
Ensembl chrNW_004624805:4,814,546...4,869,359 		JBrowse link
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:9409358 PMID:9536098 PMID:10732809 PMID:15064763 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		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, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency OMIM
ClinVar		 PMID:8406488 PMID:9409358 PMID:9536098 PMID:12527753 PMID:15064763 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		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 type 2B ClinVar PMID:28492532 NCBI chrNW_004624781:7,683,025...7,717,427 JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chrNW_004624781:7,632,720...7,685,390 JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy | ClinVar Annotator: match by term: Peripheral sensory neuropathy, autosomal dominant (PSN) OMIM
ClinVar		 PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chrNW_004625042:56,509...112,519
Ensembl chrNW_004625042:56,517...112,612 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624731:2,254,445...2,356,174
Ensembl chrNW_004624731:2,254,445...2,355,738 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar NCBI chrNW_004624801:6,988,914...7,156,469
Ensembl chrNW_004624801:6,988,904...7,159,072 		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 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		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 Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 ClinVar PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 PMID:32324310 More... NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar		 PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chrNW_004624832:4,462,675...4,467,676
Ensembl chrNW_004624832:4,462,766...4,467,616 		JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D OMIM
ClinVar		 PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chrNW_004624739:172,111...211,229
Ensembl chrNW_004624739:171,777...211,164 		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: ATP1A1-related condition | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar		 PMID:7977350 PMID:8526465 PMID:8981948 PMID:9536098 PMID:17576681 More... NCBI chrNW_004624772:12,099,523...12,127,437
Ensembl chrNW_004624772:12,099,435...12,127,737 		JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chrNW_004624758:20,490,902...20,537,171
Ensembl chrNW_004624758:20,491,118...20,538,653 		JBrowse link
G Dock5 dedicator of cytokinesis 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chrNW_004624758:20,255,036...20,444,194
Ensembl chrNW_004624758:20,255,062...20,440,370 		JBrowse link
G Ebf2 EBF transcription factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chrNW_004624758:20,791,824...20,989,836
Ensembl chrNW_004624758:20,794,698...20,989,306 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chrNW_004624758:20,447,413...20,451,059
Ensembl chrNW_004624758:20,447,583...20,450,968 		JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chrNW_004624758:20,454,965...20,490,302
Ensembl chrNW_004624758:20,454,965...20,488,868 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E OMIM
ClinVar		 PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609 		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:20301384 PMID:21252112 More... NCBI chrNW_004624877:3,293,980...3,328,337
Ensembl chrNW_004624877:3,292,244...3,328,660 		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 NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chrNW_004624738:9,395,315...9,411,904
Ensembl chrNW_004624738:9,395,416...9,407,223 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609 		JBrowse link
G Trim54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chrNW_004624738:9,372,535...9,393,195
Ensembl chrNW_004624738:9,373,017...9,392,947 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition ClinVar PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599 NCBI chrNW_004624738:9,393,004...9,393,966
Ensembl chrNW_004624738:9,393,329...9,393,706 		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 type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I OMIM
ClinVar		 PMID:3467805 PMID:7505151 PMID:7506095 PMID:8816708 PMID:8990016 More... NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292 		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 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities OMIM
ClinVar		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		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 NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chrNW_004624858:4,509,893...4,683,241
Ensembl chrNW_004624858:4,554,681...4,667,312 		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:15034582 PMID:19237541 PMID:21145000 PMID:21984748 PMID:22270372 More... NCBI chrNW_004624915:253,240...270,440
Ensembl chrNW_004624915:253,240...270,501 		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 NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w OMIM
ClinVar		 PMID:22930593 PMID:24354524 PMID:25741868 PMID:26072516 PMID:26752306 More... NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721 		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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA ClinVar PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		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, PROXIMAL TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chrNW_004624789:14,330,290...14,381,857
Ensembl chrNW_004624789:14,330,196...14,381,857 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      musculoskeletal system disease 7379
        neuromuscular disease 3005
          Charcot-Marie-Tooth disease 693
            Charcot-Marie-Tooth disease type 2 304
              Charcot-Marie-Tooth Disease Axonal Type 2FF 1
              Charcot-Marie-Tooth Disease Axonal Type 2HH 1
              Charcot-Marie-Tooth Disease Axonal Type 2II 1
              Charcot-Marie-Tooth Disease, Type 2A + 5
              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 2JJ 1
              Charcot-Marie-Tooth disease axonal type 2K 8
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 2
              Charcot-Marie-Tooth disease axonal type 2O 47
              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 51
              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 5
              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 7
              Charcot-Marie-Tooth disease type 2EE 4
              Charcot-Marie-Tooth disease type 2I 2
              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
              autosomal dominant distal hereditary motor neuronopathy 2 4
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12272
        central nervous system disease 10999
          neurodegenerative disease 4553
            Nervous System Heredodegenerative Disorders 3110
              motor peripheral neuropathy 1237
                Charcot-Marie-Tooth disease 693
                  Charcot-Marie-Tooth disease type 2 304
                    Charcot-Marie-Tooth Disease Axonal Type 2FF 1
                    Charcot-Marie-Tooth Disease Axonal Type 2HH 1
                    Charcot-Marie-Tooth Disease Axonal Type 2II 1
                    Charcot-Marie-Tooth Disease, Type 2A + 5
                    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 2JJ 1
                    Charcot-Marie-Tooth disease axonal type 2K 8
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 2
                    Charcot-Marie-Tooth disease axonal type 2O 47
                    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 51
                    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 5
                    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 7
                    Charcot-Marie-Tooth disease type 2EE 4
                    Charcot-Marie-Tooth disease type 2I 2
                    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
                    autosomal dominant distal hereditary motor neuronopathy 2 4
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