Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Qualifiers 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: 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_004936475:23,268,613...23,294,236
Ensembl chrNW_004936475:23,268,491...23,294,496 		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_004936580:4,588,182...4,598,659
Ensembl chrNW_004936580:4,588,039...4,599,014 		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_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		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_004936474:585,440...597,493
Ensembl chrNW_004936474:585,440...597,257 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:224,836...230,682
Ensembl chrNW_004936474:224,576...230,711 		JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:28492532 NCBI chrNW_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401 		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_004936580:3,981,254...3,984,895
Ensembl chrNW_004936580:3,980,659...3,984,394 		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_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021 		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_004936580:4,821,384...4,997,112
Ensembl chrNW_004936580:4,820,142...4,997,112 		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_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040 		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_004936580:3,988,383...4,010,156
Ensembl chrNW_004936580:3,988,463...4,010,584 		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_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126 		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_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		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_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267 		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_004936623:4,478,421...4,503,207
Ensembl chrNW_004936623:4,467,837...4,494,390 		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_004936580:5,537,338...5,554,384
Ensembl chrNW_004936580:5,537,015...5,554,384 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004936580:3,897,637...3,902,196
Ensembl chrNW_004936580:3,897,637...3,902,170 		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_004936580:4,165,255...4,179,285
Ensembl chrNW_004936580:4,166,619...4,186,443 		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_004936474:637,930...669,383
Ensembl chrNW_004936474:637,978...669,833 		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_004936580:4,746,276...4,758,236
Ensembl chrNW_004936580:4,746,276...4,756,230 		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_004936475:23,086,406...23,116,203
Ensembl chrNW_004936475:23,086,372...23,119,163 		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_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:4,287,175...4,289,347 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_004936580:5,861,051...5,866,818
Ensembl chrNW_004936580:5,860,562...5,866,856 		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_004936478:6,901,098...6,947,719
Ensembl chrNW_004936478:6,899,017...6,947,790 		JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:49,570...73,710 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_004936474:605,492...623,355 JBrowse link
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chrNW_004936580:3,902,345...3,914,293
Ensembl chrNW_004936580:3,906,135...3,914,298 		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_004936580:4,996,703...5,032,203
Ensembl chrNW_004936580:4,997,969...5,031,956 		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_004936580:4,571,349...4,586,459
Ensembl chrNW_004936580:4,571,319...4,586,394 		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_004936580:4,561,423...4,571,109
Ensembl chrNW_004936580:4,563,735...4,571,079 		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_004936556:601,550...632,321
Ensembl chrNW_004936556:601,548...621,609 		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_004936623:4,296,995...4,307,069
Ensembl chrNW_004936623:4,296,681...4,307,159 		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_004936474:414,546...460,525
Ensembl chrNW_004936474:432,825...459,736 		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_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954 		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_004936580:4,664,653...4,665,199
Ensembl chrNW_004936580:4,664,653...4,665,188 		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_004936474:561,822...571,817
Ensembl chrNW_004936474:561,822...571,622 		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_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		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_004936580:4,654,503...4,660,950
Ensembl chrNW_004936580:4,654,503...4,660,966 		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_004936580:4,613,847...4,622,834
Ensembl chrNW_004936580:4,613,847...4,621,208 		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_004936580:4,598,748...4,604,293
Ensembl chrNW_004936580:4,599,136...4,604,257 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		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_004936580:4,733,083...4,740,136
Ensembl chrNW_004936580:4,731,036...4,740,099 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:130,735...153,608
Ensembl chrNW_004936474:130,329...153,962 		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_004936474:521,235...526,151
Ensembl chrNW_004936474:521,123...526,959 		JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:526,191...531,825
Ensembl chrNW_004936474:525,862...532,152 		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_004936474:531,873...538,596
Ensembl chrNW_004936474:533,254...542,907 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936475:23,116,638...23,136,635
Ensembl chrNW_004936475:23,116,646...23,136,604 		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_004936580:4,799,354...4,808,406 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_004936580:4,530,007...4,535,909
Ensembl chrNW_004936580:4,530,006...4,536,730 		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_004936478:6,848,448...6,889,103
Ensembl chrNW_004936478:6,848,322...6,889,045 		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_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798 		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_004936478:7,188,826...7,202,854
Ensembl chrNW_004936478:7,188,826...7,201,932 		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_004936580:5,526,101...5,528,984
Ensembl chrNW_004936580:5,524,678...5,529,025 		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_004936580:5,044,536...5,124,575 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_004936580:5,773,076...5,781,288
Ensembl chrNW_004936580:5,769,541...5,781,325 		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_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146 		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_004936580:5,792,421...5,811,096 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_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		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_004936580:4,760,289...4,770,571
Ensembl chrNW_004936580:4,760,241...4,772,583 		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_004936580:5,899,277...5,909,309
Ensembl chrNW_004936580:5,900,528...5,908,938 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		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_004936480:13,177,430...13,178,824
Ensembl chrNW_004936480:13,178,022...13,178,480 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936475:22,967,962...22,979,954
Ensembl chrNW_004936475:22,967,930...22,979,641 		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_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936478:6,997,605...7,002,649
Ensembl chrNW_004936478:6,997,549...7,002,666 		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_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994 		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_004936580:5,712,118...5,751,721
Ensembl chrNW_004936580:5,713,156...5,751,721 		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_004936580:5,876,488...5,883,850
Ensembl chrNW_004936580:5,876,248...5,884,314 		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_004936580:4,277,219...4,426,242
Ensembl chrNW_004936580:4,277,217...4,426,493 		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_004936580:5,167,930...5,188,334
Ensembl chrNW_004936580:5,167,930...5,188,460 		JBrowse link
G Kiaa2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:728,621...737,665
Ensembl chrNW_004936474:728,612...734,296 		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_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		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_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		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_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		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_004936580:4,675,612...4,678,264
Ensembl chrNW_004936580:4,675,606...4,678,249 		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_004936580:5,316,748...5,320,364
Ensembl chrNW_004936580:5,316,616...5,322,158 		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_004936580:4,536,329...4,537,058 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: 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:262236 PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101958629 ATP-dependent RNA helicase DDX19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936475:23,206,224...23,233,316
Ensembl chrNW_004936475:23,205,284...23,233,505 		JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		JBrowse link
G LOC101965661 beta-catenin-interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:3,696,686...3,729,017
Ensembl chrNW_004936623:3,782,005...3,806,619
Ensembl chrNW_004936623:3,782,005...3,806,619 		JBrowse link
G LOC101978306 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004936580:5,454,574...5,479,600
Ensembl chrNW_004936580:5,454,580...5,479,884 		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:25741868 PMID:28492532 NCBI chrNW_004936487:15,181,009...15,217,952
Ensembl chrNW_004936487:15,180,811...15,217,406 		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_004936623:3,851,208...3,862,521
Ensembl chrNW_004936623:3,851,208...3,862,281 		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_004936474:538,703...542,901
Ensembl chrNW_004936474:538,625...542,901 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313 		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_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337 		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_004936580:5,660,306...5,685,333
Ensembl chrNW_004936580:5,660,016...5,675,166 		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_004936580:5,883,977...5,892,476
Ensembl chrNW_004936580:5,883,996...5,894,464 		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_004936580:5,334,026...5,339,536
Ensembl chrNW_004936580:5,334,575...5,339,507 		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: 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_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		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_004936474:802,240...810,827
Ensembl chrNW_004936474:802,192...811,946 		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_004936478:7,013,419...7,126,734
Ensembl chrNW_004936478:7,013,274...7,126,749 		JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936519:2,513,896...2,595,896
Ensembl chrNW_004936519:2,513,704...2,595,971 		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_004936580:5,892,964...5,897,602 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_004936580:5,040,686...5,045,044
Ensembl chrNW_004936580:5,040,715...5,044,956 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		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_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		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_004936580:4,710,024...4,715,411 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_004936580:4,691,870...4,694,092 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_004936580:5,769,583...5,772,633
Ensembl chrNW_004936580:5,769,633...5,772,582 		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_004936580:5,837,949...5,847,499
Ensembl chrNW_004936580:5,837,936...5,847,020 		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_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665 		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_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		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_004936580:5,482,375...5,486,958
Ensembl chrNW_004936580:5,483,042...5,485,470 		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_004936580:4,496,112...4,505,968
Ensembl chrNW_004936580:4,495,099...4,503,252 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:4,234,869...4,251,690
Ensembl chrNW_004936623:4,234,837...4,252,467 		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_004936623:3,672,201...3,696,959 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_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916 		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 PMID:28492532 NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585 		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_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631 		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_004936580:5,927,575...5,954,636
Ensembl chrNW_004936580:5,927,847...5,953,796 		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_004936580:4,506,982...4,511,044
Ensembl chrNW_004936580:4,507,925...4,511,107 		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_004936580:5,321,394...5,329,256
Ensembl chrNW_004936580:5,321,860...5,329,270 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chrNW_004936798:297,600...304,929
Ensembl chrNW_004936798:296,066...305,176 		JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:3,899,506...3,907,073
Ensembl chrNW_004936623:3,899,471...3,907,080 		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_004936580:5,575,867...5,590,061
Ensembl chrNW_004936580:5,575,866...5,590,062 		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_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040 		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_004936580:4,808,620...4,818,097
Ensembl chrNW_004936580:4,808,546...4,818,221 		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_004936580:5,208,001...5,209,711
Ensembl chrNW_004936580:5,208,222...5,209,346 		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_004936580:4,740,520...4,745,871
Ensembl chrNW_004936580:4,740,520...4,745,870 		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_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158 		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_004936475:23,038,424...23,086,134
Ensembl chrNW_004936475:23,037,687...23,086,188 		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_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677 		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_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715 		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_004936580:4,095,218...4,109,961
Ensembl chrNW_004936580:4,095,234...4,109,964 		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_004936623:3,585,372...3,603,515
Ensembl chrNW_004936623:3,585,253...3,604,310 		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_004936580:5,435,841...5,454,396
Ensembl chrNW_004936580:5,435,730...5,454,759 		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_004936580:4,661,890...4,664,137
Ensembl chrNW_004936580:4,661,884...4,664,159 		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_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004936580:5,487,522...5,516,448
Ensembl chrNW_004936580:5,487,533...5,516,521 		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_004936623:3,448,787...3,455,670
Ensembl chrNW_004936623:3,427,761...3,455,670 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:121,135...124,894
Ensembl chrNW_004936474:118,000...124,963 		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_004936580:5,270,411...5,277,435
Ensembl chrNW_004936580:5,270,384...5,276,732 		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_004936475:23,149,452...23,203,919
Ensembl chrNW_004936475:23,149,487...23,205,027 		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_004936580:5,123,196...5,142,976
Ensembl chrNW_004936580:5,129,865...5,142,885 		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_004936474:90,813...103,713 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_004936630:2,518,944...2,555,054
Ensembl chrNW_004936630:2,515,822...2,555,299 		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_004936580:4,699,255...4,709,200
Ensembl chrNW_004936580:4,698,623...4,709,200 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:3,612,845...3,629,661
Ensembl chrNW_004936623:3,613,218...3,628,688 		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_004936580:5,519,577...5,525,608
Ensembl chrNW_004936580:5,518,680...5,528,426 		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_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		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_004936474:814,510...889,851 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_004936580:3,860,185...3,893,251
Ensembl chrNW_004936580:3,860,190...3,889,978 		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_004936580:4,678,855...4,690,222
Ensembl chrNW_004936580:4,678,827...4,690,236 		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:28492532 NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
G Tsacc TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chrNW_004936580:5,559,624...5,561,051
Ensembl chrNW_004936580:5,559,663...5,561,051 		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_004936580:5,758,792...5,766,327 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_004936580:3,913,460...3,960,026
Ensembl chrNW_004936580:3,914,468...3,959,789 		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_004936580:4,148,537...4,158,195
Ensembl chrNW_004936580:4,148,503...4,158,272 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936623:3,934,439...4,051,083
Ensembl chrNW_004936623:3,934,310...4,051,146 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chrNW_004936474:284,630...293,090
Ensembl chrNW_004936474:284,569...295,572 		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_004936580:5,299,864...5,316,583
Ensembl chrNW_004936580:5,301,389...5,315,756 		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_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859 		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_004936580:4,546,139...4,560,157
Ensembl chrNW_004936580:4,551,304...4,560,163 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers 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 PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chrNW_004936504:6,319,026...6,369,487
Ensembl chrNW_004936504:6,318,940...6,369,480 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | 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_004936668:1,496,600...1,505,650 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_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name Qualifiers 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_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430 		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_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133 		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:2128891 PMID:4056805 PMID:6628444 More... NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain susceptibility ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM		 PMID:25741868 PMID:27040688 PMID:28492532 PMID:28749476 PMID:29411640 More... NCBI chrNW_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers 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 Neuropathy Type 2F | 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:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 More... NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2FF term browser
Symbol Object Name Qualifiers 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_004936740:1,298,512...1,331,376
Ensembl chrNW_004936740:1,299,043...1,331,453 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Qualifiers 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_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Qualifiers 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:16606917 PMID:17576681 PMID:18566107 More... NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Qualifiers 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_004936594:1,115,607...1,140,085
Ensembl chrNW_004936594:1,112,565...1,140,228 		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_004936648:2,606,075...2,629,997
Ensembl chrNW_004936648:2,604,283...2,630,035 		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:257 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chrNW_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430 		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_004936648:2,868,419...2,956,370 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_004936648:2,653,252...2,671,453 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_004936648:2,636,667...2,650,311 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_004936648:2,517,951...2,575,805
Ensembl chrNW_004936648:2,521,432...2,575,815 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Qualifiers 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_004936668:1,496,600...1,505,650 JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Qualifiers 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_004936475:23,268,613...23,294,236
Ensembl chrNW_004936475:23,268,491...23,294,496 		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_004936599:5,442,060...5,503,298
Ensembl chrNW_004936599:5,442,063...5,503,318 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Qualifiers 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_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936621:486,855...512,079 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_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:608,461...613,157
Ensembl chrNW_004936835:611,156...612,918 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936621:1,140,651...1,163,608
Ensembl chrNW_004936621:1,140,658...1,163,589 		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_004936621:1,291,209...1,294,915
Ensembl chrNW_004936621:1,293,189...1,294,775 		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_004936621:1,573,237...1,578,257
Ensembl chrNW_004936621:1,574,033...1,575,376 		JBrowse link
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040 		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_004936621:301,879...304,177
Ensembl chrNW_004936621:300,503...304,183 		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_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025 		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_004936621:457,072...458,757 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_004936621:531,419...554,390
Ensembl chrNW_004936621:531,382...554,166 		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 NCBI chrNW_004936835:514,838...525,146
Ensembl chrNW_004936835:514,849...525,146 		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_004936621:1,612,398...1,615,821
Ensembl chrNW_004936621:1,612,393...1,615,822 		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_004936621:464,993...472,608
Ensembl chrNW_004936621:464,507...472,642 		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_004936621:781,145...790,441 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:9781046 PMID:10862709 PMID:12730604 PMID:15826937 More... NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		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_004936621:1,772,116...1,779,669
Ensembl chrNW_004936621:1,769,952...1,779,709 		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_004936621:1,913,013...1,921,499
Ensembl chrNW_004936621:1,913,339...1,922,202 		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_004936621:428,332...442,283 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 NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990 		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_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605 		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_004936621:363,489...380,616
Ensembl chrNW_004936621:366,616...380,618 		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_004936621:1,084,957...1,119,619
Ensembl chrNW_004936621:1,085,964...1,119,369 		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_004936621:1,471,574...1,505,119
Ensembl chrNW_004936621:1,543,444...1,560,076
Ensembl chrNW_004936621:1,543,444...1,560,076 		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_004936621:1,627,846...1,733,041
Ensembl chrNW_004936621:1,627,431...1,733,047 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:432,403...479,605
Ensembl chrNW_004936835:429,708...479,625 		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_004936621:346,463...354,014
Ensembl chrNW_004936621:346,479...354,042 		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_004936621:172,727...206,803
Ensembl chrNW_004936621:175,387...206,662 		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_004936621:515,710...523,317
Ensembl chrNW_004936621:515,636...523,359 		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_004936621:1,383,137...1,447,376
Ensembl chrNW_004936621:1,383,105...1,447,353 		JBrowse link
G Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:54,478...192,486
Ensembl chrNW_004936835:96,930...192,756 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:747,758...798,505
Ensembl chrNW_004936835:747,477...799,703 		JBrowse link
G Rd3l RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936621:1,272,089...1,274,488
Ensembl chrNW_004936621:1,272,016...1,276,411 		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_004936621:641,456...650,067
Ensembl chrNW_004936621:644,852...650,132 		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_004936621:1,186,643...1,283,213
Ensembl chrNW_004936621:1,185,920...1,283,303 		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 NCBI chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365 		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_004936621:770,007...780,735
Ensembl chrNW_004936621:770,123...780,763 		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_004936621:1,891,326...1,903,504 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 NCBI chrNW_004936835:844,747...955,900
Ensembl chrNW_004936835:844,727...950,664 		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_004936621:1,600,241...1,607,039
Ensembl chrNW_004936621:1,599,309...1,606,939 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:355,300...428,723
Ensembl chrNW_004936835:355,288...428,725 		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_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868 		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_004936621:609,206...612,868 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_004936621:1,447,459...1,462,179
Ensembl chrNW_004936621:1,446,099...1,462,219 		JBrowse link
G Znf839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chrNW_004936835:497,408...510,623
Ensembl chrNW_004936835:497,215...512,039 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Qualifiers 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_004936487:15,181,009...15,217,952
Ensembl chrNW_004936487:15,180,811...15,217,406 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q OMIM
ClinVar		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name Qualifiers 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_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954 		JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal 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:25565308 PMID:25741868 PMID:26991897 More... NCBI chrNW_004936519:2,513,896...2,595,896
Ensembl chrNW_004936519:2,513,704...2,595,971 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571 		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_004936646:1,678,678...1,695,142
Ensembl chrNW_004936646:1,678,678...1,695,142 		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_004936646:1,665,019...1,669,212 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_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		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_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086 		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_004936646:1,669,281...1,678,512 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_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Qualifiers 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_004936490:17,305,033...17,312,167
Ensembl chrNW_004936490:17,304,586...17,314,521 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Qualifiers 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_004936471:7,540,647...7,618,783 JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers 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_004936755:133,315...171,507
Ensembl chrNW_004936755:130,983...171,492 		JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Qualifiers 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_004936498:4,514,212...4,544,523
Ensembl chrNW_004936498:4,514,184...4,544,527 		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:11389829 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers 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_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638 		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_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896 		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 PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 More... NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Qualifiers 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_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896 		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:10732809 PMID:15064763 PMID:15549395 More... NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Qualifiers 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:15064763 PMID:15549395 PMID:16043786 More... NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Qualifiers 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_004936798:83,952...106,381
Ensembl chrNW_004936798:90,584...106,041 		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_004936798:107,074...144,373 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: Peripheral sensory neuropathy, autosomal dominant (PSN) OMIM
ClinVar		 PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chrNW_004936798:297,600...304,929
Ensembl chrNW_004936798:296,066...305,176 		JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers 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:2526018 PMID:2733290 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Qualifiers 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:25527630 PMID:25741868 PMID:28492532 PMID:30039206 More... NCBI chrNW_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337 		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_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Qualifiers 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_004936478:6,848,448...6,889,103
Ensembl chrNW_004936478:6,848,322...6,889,045 		JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar		 PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chrNW_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638 		JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Qualifiers 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_004936757:1,195,604...1,249,367
Ensembl chrNW_004936757:1,195,567...1,248,237 		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_004936757:1,289,941...1,419,257
Ensembl chrNW_004936757:1,289,954...1,576,984 		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_004936757:779,529...954,409
Ensembl chrNW_004936757:780,041...954,021 		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_004936757:1,282,185...1,285,804
Ensembl chrNW_004936757:1,282,185...1,285,832 		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_004936757:1,250,089...1,276,089
Ensembl chrNW_004936757:1,250,039...1,276,089 		JBrowse link
G Nefl neurofilament light chain ISO 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_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		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_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147 		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_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		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_004936493:5,261,127...5,279,040
Ensembl chrNW_004936493:5,256,282...5,279,022 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chrNW_004936493:5,258,574...5,260,692
Ensembl chrNW_004936493:5,260,219...5,260,602 		JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Qualifiers 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:8664899 PMID:8816708 More... NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		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_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers 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:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Qualifiers 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_004936576:88,163...202,944
Ensembl chrNW_004936576:88,024...202,958 		JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Qualifiers 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_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Qualifiers 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:25741868 PMID:26072516 PMID:26752306 PMID:27353947 More... NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Qualifiers 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_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Qualifiers 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_004936630:2,518,944...2,555,054
Ensembl chrNW_004936630:2,515,822...2,555,299 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        neuromuscular disease 2898
          Charcot-Marie-Tooth disease 632
            Charcot-Marie-Tooth disease type 2 251
              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 2K 7
              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 7
              Charcot-Marie-Tooth disease axonal type 2V 1
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2B 3
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 2
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2DD 1
              Charcot-Marie-Tooth disease type 2E 7
              Charcot-Marie-Tooth disease type 2EE 5
              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 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          neurodegenerative disease 4477
            Nervous System Heredodegenerative Disorders 3071
              motor peripheral neuropathy 1166
                Charcot-Marie-Tooth disease 632
                  Charcot-Marie-Tooth disease type 2 251
                    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 2K 7
                    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 7
                    Charcot-Marie-Tooth disease axonal type 2V 1
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 2
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 7
                    Charcot-Marie-Tooth disease type 2EE 5
                    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 3
paths to the root