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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
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Accession:DOID:10595 term browser browse the term
Definition:A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Synonyms:exact_synonym: CMT - Charcot-Marie-Tooth disease;   Charcot Marie Tooth hereditary neuropathy;   Charcot Marie Tooth muscular atrophy;   Charcot Marie Tooth syndrome;   Charcot Marie disease;   Roussy Levy disease;   Roussy Levy hereditary areflexic dystasia;   Roussy Levy syndrome;   hereditary areflexic dystasia;   hereditary areflexic dystasias;   peroneal muscular atrophies;   peroneal muscular atrophy
 primary_id: MESH:D002607
 alt_id: MIM:180800
 xref: EFO:0004148;   GARD:6034;   ICD9CM:356.1;   MIM:PS118220;   MONDO:0015626;   NCI:C75467
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease 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 ClinVar PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 PMID:21494555 More... NCBI chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G ARF1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr14:835,476...836,424
Ensembl chr14:835,476...836,424 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10319589 PMID:24627108 PMID:25025039 PMID:25164601 PMID:25741868 More... NCBI chr16:54,293,534...54,378,706
Ensembl chr16:54,293,435...54,347,555 		JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr 8:26,959,697...27,034,190
Ensembl chr 8:26,959,749...27,120,114 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 More... NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 More... NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G CNTNAP2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:24604904 PMID:24627108 PMID:25025039 More... NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr10:1,620,702...1,634,385
Ensembl chr10:1,620,724...1,634,309 		JBrowse link
G DHX9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 7:16,233,763...16,292,576
Ensembl chr 7:16,233,814...16,292,618 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 More... NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15731758 PMID:16227997 PMID:17636067 PMID:18394888 PMID:18414213 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7898717 PMID:10210919 PMID:21532572 PMID:23365052 PMID:23521649 More... NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 More... NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 More... NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819 		JBrowse link
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:60,360,543...60,416,727
Ensembl chr 4:60,320,648...60,417,205 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15744041 PMID:17564959 PMID:17564972 PMID:19332693 PMID:20301641 More... NCBI chr27:16,252,405...16,464,099
Ensembl chr27:16,254,542...16,464,112 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:19118816 More... NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G GAN gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr 5:70,518,667...70,579,398
Ensembl chr 5:70,530,396...70,579,567 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:257 PMID:9536098 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy 		ClinVar PMID:1211842 PMID:2987105 PMID:7477983 PMID:7580242 PMID:7833935 More... NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr34:12,818,063...12,849,822
Ensembl chr34:12,822,104...12,876,865 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24314034 NCBI chr17:20,355,778...20,399,869 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 More... NCBI chr11:19,551,057...19,555,390 JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 More... NCBI chr26:15,337,718...15,349,993
Ensembl chr26:15,336,864...15,355,757 		JBrowse link
G IFRD1 interferon related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr14:52,053,423...52,078,419
Ensembl chr14:52,053,434...52,092,365 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy 		ClinVar PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 More... NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr 8:72,275,209...72,284,991 JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 PMID:28492532 NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr 6:31,229,153...31,259,670 JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2526018 PMID:2733290 PMID:8621584 PMID:9500556 PMID:9536098 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 More... NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 More... NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25488817 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 More... NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy 		ClinVar PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: PERONEAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Peroneal muscular atrophy OMIM
ClinVar		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 More... NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 More... NCBI chr21:5,194,772...5,316,441
Ensembl chr21:5,194,604...5,315,375 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10094189 PMID:15933803 PMID:23430803 PMID:25741868 PMID:28492532 More... NCBI chr 9:20,407,296...20,414,094
Ensembl chr 9:20,407,281...20,414,056 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NGF nerve growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20978020 PMID:22302274 PMID:28492532 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NRG1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:77656 PMID:3472625 PMID:10330344 PMID:10982191 PMID:11139246 More... NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:19,994,383...20,058,979
Ensembl chr  X:19,994,393...20,058,485 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia OMIM
ClinVar		 PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:113,279,940...113,294,042 JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 More... NCBI chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22703882 PMID:24604904 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr17:38,807,217...38,908,434
Ensembl chr17:38,807,014...38,906,196 		JBrowse link
G RETREG1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 PMID:31737055 More... NCBI chr 4:86,817,391...86,921,119 JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21210780 PMID:24799518 PMID:25558065 PMID:25741868 NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789 		JBrowse link
G SBF2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9521281 PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 More... NCBI chr21:33,005,921...33,461,258
Ensembl chr21:33,007,380...33,461,115 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 More... NCBI chr23:8,559,804...8,651,448
Ensembl chr23:8,559,952...8,651,500 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SEMA5A semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr34:4,612,202...5,089,071
Ensembl chr34:4,612,142...5,082,280 		JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 PMID:28492532 NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15732101 PMID:16717225 PMID:19696032 PMID:25025039 PMID:25741868 More... NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:3000192 PMID:9536098 PMID:14574644 PMID:16326826 PMID:16806930 More... NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1660691 PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 More... NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 3:1,700,310...1,715,841
Ensembl chr 3:1,702,905...1,756,025 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr10:35,879,880...35,908,203
Ensembl chr10:35,883,245...35,908,569 		JBrowse link
G SORD sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8673084 PMID:10025779 PMID:11242106 PMID:11242114 PMID:11479835 More... NCBI chr 1:94,997,240...95,062,424
Ensembl chr 1:94,997,290...95,064,468 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:17081983 PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 More... NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313 		JBrowse link
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr33:7,240,912...7,265,526
Ensembl chr33:7,236,613...7,265,309 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy 		ClinVar PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:8179305 More... NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy 		ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15911806 PMID:16534117 PMID:16636245 PMID:18521183 NCBI chr27:42,764,184...42,914,591
Ensembl chr27:42,765,181...42,912,806 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:25741868 More... NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 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: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		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 chr 4:60,360,543...60,416,727
Ensembl chr 4:60,320,648...60,417,205 		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 chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		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 chr26:15,337,718...15,349,993
Ensembl chr26:15,336,864...15,355,757 		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 chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 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 ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		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 chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		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:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 More... NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		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 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 chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		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 chr38:22,765,479...22,782,162
Ensembl chr38:22,766,698...22,797,072 		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 chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		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:12838516 PMID:16606917 PMID:17576681 More... NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2JJ term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:28754666 PMID:31853710 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		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 chr 9:4,658,692...4,682,667
Ensembl chr 9:4,658,090...4,679,096 		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 chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240 		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 chr29:22,452,254...22,476,523
Ensembl chr29:22,453,544...22,476,429 		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 chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		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 chr29:22,701,531...22,785,712
Ensembl chr29:22,703,647...22,785,415 		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 chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117 		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 chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741 		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 chr29:22,307,192...22,409,667 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 chr26:15,337,718...15,349,993
Ensembl chr26:15,336,864...15,355,757 		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 chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		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 chr18:53,306,544...53,364,012
Ensembl chr18:53,306,364...53,360,311 		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 chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479 		JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,423,322...72,446,388 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 chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		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 chr 8:70,800,435...70,807,835 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 chr 8:70,441,493...70,445,555
Ensembl chr 8:70,441,587...70,443,987 		JBrowse link
G ASPG asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349 		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 chr 8:71,600,422...71,605,615 JBrowse link
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,318,730...71,324,743
Ensembl chr 8:71,321,625...71,322,992 		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 chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263 		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 chr 8:72,605,715...72,607,189
Ensembl chr 8:72,605,516...72,607,023 		JBrowse link
G C8H14orf180 chromosome 8 C14orf180 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,165,757...72,176,235
Ensembl chr 8:72,165,810...72,176,264 		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 chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324 		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 chr 8:72,457,671...72,465,630
Ensembl chr 8:72,458,160...72,465,767 		JBrowse link
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,374,536...72,399,714 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 chr 8:70,307,464...70,332,838
Ensembl chr 8:70,307,586...70,332,845 		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 chr 8:72,448,580...72,454,685
Ensembl chr 8:72,443,323...72,454,191 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466 		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 chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		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 chr 8:71,102,628...71,111,971
Ensembl chr 8:71,102,690...71,270,399 		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 chr 8:70,943,515...70,956,211
Ensembl chr 8:70,946,994...70,955,867 		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 chr 8:72,478,585...72,493,165
Ensembl chr 8:72,479,905...72,493,609 		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 chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243 		JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,275,209...72,284,991 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 chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322 		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 chr 8:71,789,024...71,827,794
Ensembl chr 8:71,788,821...71,827,804 		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 chr 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062 		JBrowse link
G LOC100855552 creatine kinase B-type ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,284,104...71,287,379 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 chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399 		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 chr 8:70,209,211...70,270,065
Ensembl chr 8:70,211,746...70,269,884 		JBrowse link
G NUDT14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,562,314...72,568,542
Ensembl chr 8:72,562,314...72,567,057 		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 chr 8:72,672,861...72,721,655
Ensembl chr 8:72,673,472...72,721,215 		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 chr 8:72,410,076...72,417,681
Ensembl chr 8:72,416,637...72,417,384 		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 chr 8:71,462,338...71,518,918
Ensembl chr 8:71,463,270...71,553,692 		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 chr 8:69,846,311...69,969,409
Ensembl chr 8:69,846,446...69,967,578 		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 chr 8:70,586,259...70,637,453
Ensembl chr 8:70,585,567...70,627,158 		JBrowse link
G RD3L RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,618,412...71,620,928
Ensembl chr 8:71,618,838...71,620,005 		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 chr 8:72,309,400...72,313,726
Ensembl chr 8:72,309,447...72,313,640 		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 chr 8:71,610,653...71,717,772
Ensembl chr 8:71,610,711...71,717,199 		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 chr 8:70,332,934...70,435,558
Ensembl chr 8:70,344,063...70,434,218 		JBrowse link
G TMEM179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:72,177,054...72,188,324
Ensembl chr 8:72,179,141...72,188,917 		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 chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396 		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 chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645 		JBrowse link
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 8:71,294,129...71,300,679
Ensembl chr 8:71,294,303...71,300,687 		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 chr 8:70,150,090...70,208,683
Ensembl chr 8:70,146,967...70,199,975 		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 chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408 		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 chr 8:72,339,038...72,346,109 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 chr 8:71,451,968...71,462,244
Ensembl chr 8:71,451,999...71,461,938 		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 chr 8:70,285,289...70,302,355
Ensembl chr 8:70,285,326...70,302,218 		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: CMT 2G | 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 chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		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 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 chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		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 | ClinVar Annotator: match by term: IGHMBP2-related condition OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		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 chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		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 chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		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 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 chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610 		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 chr10:661,400...666,125
Ensembl chr10:661,875...662,927 		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 chr10:1,576,114...1,583,611 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 chr10:1,687,519...1,694,487
Ensembl chr10:1,687,513...1,695,238 		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 chr10:870,405...876,937
Ensembl chr10:870,392...909,161 		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 chr10:1,703,846...1,756,837
Ensembl chr10:1,703,169...1,709,994 		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 chr10:834,018...868,817
Ensembl chr10:836,465...863,874 		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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911 		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 chr10:1,620,702...1,634,385
Ensembl chr10:1,620,724...1,634,309 		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 chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303 		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 chr10:1,684,394...1,687,244
Ensembl chr10:1,683,410...1,686,814 		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 chr10:1,833,759...1,842,646 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 chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982 		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 chr10:722,105...737,857
Ensembl chr10:722,202...737,753 		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 chr10:1,142,961...1,144,357
Ensembl chr10:1,142,937...1,144,091 		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 chr10:948,982...1,016,651
Ensembl chr10:1,000,199...1,016,420 		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 chr10:635,384...640,715
Ensembl chr10:638,719...640,359 		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 chr10:1,546,654...1,558,631
Ensembl chr10:1,547,075...1,558,645 		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 chr10:1,558,876...1,563,370
Ensembl chr10:1,559,770...1,562,885 		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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G LOC607393 neurexophilin-4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:1,348,634...1,353,930
Ensembl chr10:1,352,470...1,353,321 		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 chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		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 chr10:1,819,133...1,823,314
Ensembl chr10:1,819,258...1,821,995 		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 chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		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 chr10:1,611,462...1,620,546
Ensembl chr10:1,613,643...1,619,745 		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 chr10:1,831,088...1,833,818
Ensembl chr10:1,831,091...1,833,868 		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 chr10:701,385...707,005
Ensembl chr10:701,387...706,151 		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 chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153 		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 chr10:1,226,626...1,232,575
Ensembl chr10:1,226,415...1,231,810 		JBrowse link
G NACA nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:938,682...949,103
Ensembl chr10:938,683...949,032
Ensembl chr 7:938,683...949,032 		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 chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515 		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 chr10:1,197,792...1,218,190
Ensembl chr10:1,202,025...1,218,280 		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 chr10:1,757,070...1,787,822
Ensembl chr10:1,757,103...1,787,203 		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 chr10:621,286...636,899
Ensembl chr10:621,281...634,495 		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 chr10:1,670,076...1,680,975
Ensembl chr10:1,672,380...1,680,840 		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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr10:951,888...975,966 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 chr10:885,744...903,814
Ensembl chr10:870,392...909,161 		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 chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017 		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 chr10:738,215...829,965
Ensembl chr10:766,206...828,308 		JBrowse link
G RDH16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:1,124,322...1,134,138
Ensembl chr10:1,124,320...1,130,453 		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 chr10:1,112,832...1,121,238
Ensembl chr10:1,112,896...1,120,720 		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 chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		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 chr10:720,099...722,139
Ensembl chr10:720,046...722,119 		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 chr10:1,370,340...1,377,769 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 chr10:641,543...660,882
Ensembl chr10:642,718...658,546 		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 chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075 		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
G TIMELESS timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:671,829...701,152
Ensembl chr10:671,269...687,016 		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 chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692 		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 chr10:1,146,567...1,154,122 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 chr 9:20,407,296...20,414,094
Ensembl chr 9:20,407,281...20,414,056 		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 chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485 		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 chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32937143 NCBI chr28:14,775,431...14,896,121
Ensembl chr28:14,788,369...14,895,978 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,040,383...50,043,312
Ensembl chr20:50,040,383...50,042,031 		JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,384,595...49,388,758
Ensembl chr20:49,384,966...49,388,755 		JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,374,159...50,395,695
Ensembl chr20:50,373,622...50,386,594 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195 		JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,964,345...49,970,461
Ensembl chr20:49,964,350...49,970,400 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,830,859...49,837,432
Ensembl chr20:49,831,265...49,837,385 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,225,351...49,228,940
Ensembl chr20:49,225,990...49,228,940 		JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia OMIM
ClinVar		 PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829 		JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,848,848...49,867,075
Ensembl chr20:49,848,912...49,867,066 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,886,379...49,904,706
Ensembl chr20:49,886,786...49,901,523 		JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,821,968...49,828,052
Ensembl chr14:1,384,324...1,385,366 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,425,423...49,430,673
Ensembl chr20:49,425,534...49,430,667 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,241,956...49,243,838
Ensembl chr20:49,241,962...49,243,837 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,392,662...49,398,662
Ensembl chr20:49,392,662...49,398,664 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,367,450...49,383,109
Ensembl chr20:49,367,876...49,382,813 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355 		JBrowse link
G LOC100682654 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,614,418...49,647,119 JBrowse link
G LOC484933 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,471,754...49,519,080
Ensembl chr20:49,473,392...49,500,773 		JBrowse link
G LOC611075 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,722,550...49,743,492 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,109,358...49,113,911 JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,446,162...49,461,812 JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837 		JBrowse link
G MIR199-1 microRNA mir-199-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,117,087...49,187,023
Ensembl chr20:49,117,943...49,214,788 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,917,183...49,926,417
Ensembl chr20:49,917,350...49,926,424 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,905,246...49,916,551
Ensembl chr20:49,905,248...49,916,463 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,974,592...49,985,362
Ensembl chr20:49,974,590...49,983,062 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,244,330...49,250,058
Ensembl chr20:49,241,358...49,250,039 		JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,926,916...49,942,013
Ensembl chr20:49,925,185...49,942,130 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:25741868 NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,099,821...50,107,626
Ensembl chr20:50,099,878...50,107,607 		JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,075,302...49,078,694
Ensembl chr20:49,075,834...49,085,324 		JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,951,633...49,953,281
Ensembl chr20:49,951,783...49,953,434 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,323,735...50,326,483
Ensembl chr20:50,325,482...50,326,711 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,395,862...50,399,118
Ensembl chr20:50,396,005...50,407,535 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,970,042...49,973,040
Ensembl chr20:49,970,508...49,973,041 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,400,082...49,403,533
Ensembl chr20:49,400,179...49,403,530 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,100,794...49,108,734
Ensembl chr20:49,101,158...49,108,732 		JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,997,432...50,006,844 JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:50,326,437...50,331,038
Ensembl chr20:50,325,271...50,331,031 		JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr20:49,867,522...49,883,889
Ensembl chr20:49,866,056...49,883,847 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3GALT2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,117,648...68,138,610
Ensembl chr 2:68,118,413...68,138,095 		JBrowse link
G ADPRS ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,116,516...6,122,330
Ensembl chr15:6,116,500...6,123,798 		JBrowse link
G AGO1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,258,359...6,294,911
Ensembl chr15:6,263,882...6,295,338 		JBrowse link
G AGO3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,133,303...6,253,032
Ensembl chr15:6,145,895...6,253,085 		JBrowse link
G AGO4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,325,899...6,351,748
Ensembl chr15:6,329,413...6,356,676 		JBrowse link
G AIRIM AFG2 interacting ribosome maturation factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,810,059...4,816,223
Ensembl chr15:4,810,068...4,832,822 		JBrowse link
G AK2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090 		JBrowse link
G AKIRIN1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,759,559...3,771,651
Ensembl chr15:3,763,374...3,771,551 		JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,792,398...14,808,805
Ensembl chr15:14,742,012...14,808,592 		JBrowse link
G ARMH1 armadillo like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,590,451...15,640,089
Ensembl chr15:15,590,447...15,640,321 		JBrowse link
G ARTN artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532
G ATP6V0B ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,282,490...16,285,776
Ensembl chr15:16,282,684...16,285,731 		JBrowse link
G AZIN2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,288,554...68,323,710
Ensembl chr 2:68,286,195...68,323,710 		JBrowse link
G B4GALT2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,272,051...16,281,028
Ensembl chr15:16,255,986...16,281,165 		JBrowse link
G BEST4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,535,179...15,539,047
Ensembl chr15:15,535,186...15,538,526 		JBrowse link
G BTBD19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,511,430...15,516,611
Ensembl chr15:15,512,018...15,516,013 		JBrowse link
G C15H1orf122 chromosome 15 C1orf122 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386 		JBrowse link
G C15H1orf210 chromosome 15 C1orf210 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,880,339...16,884,584
Ensembl chr15:16,882,241...16,884,387 		JBrowse link
G C15H1orf216 chromosome 15 C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,443,334...6,448,284
Ensembl chr15:6,445,942...6,446,628 		JBrowse link
G C15H1orf50 chromosome 15 C1orf50 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:595,391...603,176
Ensembl chr15:595,309...603,237 		JBrowse link
G C15H1orf94 chromosome 15 C1orf94 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,654,546...7,691,562 JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,886,661...2,913,975 JBrowse link
G CCDC17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,735,383...14,740,146
Ensembl chr15:14,736,440...14,739,977 		JBrowse link
G CCDC24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,267,994...16,269,499 JBrowse link
G CCDC30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:691,771...759,443
Ensembl chr15:691,780...810,110 		JBrowse link
G CDC20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,803,204...16,806,935
Ensembl chr15:16,803,204...16,806,919 		JBrowse link
G CDCA8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,796,980...4,809,914
Ensembl chr15:4,798,197...4,809,658 		JBrowse link
G CFAP144 cilia and flagella associated protein 144 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,990,826...17,000,220 JBrowse link
G CFAP57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,903,470...16,977,825
Ensembl chr15:16,903,470...16,977,408 		JBrowse link
G CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:626,721...631,643
Ensembl chr15:627,035...631,789 		JBrowse link
G CLSPN claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,400,084...6,430,295
Ensembl chr15:6,400,062...6,430,279 		JBrowse link
G COL8A2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,095,872...6,115,538
Ensembl chr15:6,095,728...6,115,538 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,615,428...2,661,552
Ensembl chr15:2,646,982...2,661,552 		JBrowse link
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882 		JBrowse link
G CSMD2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,753,901...8,191,506 JBrowse link
G CTPS1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014 		JBrowse link
G DLGAP3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,058,367...7,123,604
Ensembl chr15:7,058,749...7,115,034 		JBrowse link
G DMAP1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,077,164...16,085,666
Ensembl chr15:16,077,206...16,085,687 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,916,747...4,922,893
Ensembl chr15:4,916,756...4,922,813 		JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,287,300...16,291,079
Ensembl chr15:16,288,370...16,291,032 		JBrowse link
G DYNLT4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,516,950...15,519,137
Ensembl chr15:15,518,369...15,519,028 		JBrowse link
G EBNA1BP2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,977,855...16,986,208
Ensembl chr15:16,977,850...16,985,927 		JBrowse link
G EDN2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,647,966...1,654,272
Ensembl chr15:1,648,077...1,654,272 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,337,421...15,481,427
Ensembl chr15:15,337,483...15,481,425 		JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,798,305...16,803,071
Ensembl chr15:16,798,370...16,802,899 		JBrowse link
G EPHA10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,756,136...4,789,494 JBrowse link
G ERI3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,948,986...16,076,804
Ensembl chr15:15,948,932...16,076,529 		JBrowse link
G ERMAP erythroblast membrane associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:527,726...543,364
Ensembl chr15:526,067...543,638 		JBrowse link
G EVA1B eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,939,279...5,940,890
Ensembl chr15:5,938,642...5,941,636 		JBrowse link
G EXO5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,497,292...2,502,776 JBrowse link
G FHL3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,588,101...4,590,994
Ensembl chr15:4,582,483...4,590,435 		JBrowse link
G FNDC5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,485,941...68,493,491
Ensembl chr 2:68,485,935...68,492,606 		JBrowse link
G FOXJ3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:941,301...1,081,389
Ensembl chr15:941,274...1,078,563 		JBrowse link
G FOXO6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,760,034...1,772,224 JBrowse link
G GJA4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,167,665...7,170,388 JBrowse link
G GJA9 gap junction protein alpha 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,862,418...3,864,296
Ensembl chr15:3,862,418...3,864,480 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,193,183...7,195,586 JBrowse link
G GJB5 gap junction protein beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,196,720...7,199,652 JBrowse link
G GNL2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,890,318...4,915,229
Ensembl chr15:4,890,358...4,917,152 		JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,672,628...14,734,045
Ensembl chr15:14,701,923...14,734,056 		JBrowse link
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,331,746...5,550,975
Ensembl chr15:5,331,717...5,549,181 		JBrowse link
G GUCA2A guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,090,109...1,091,277
Ensembl chr15:1,090,109...1,091,375 		JBrowse link
G GUCA2B guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,094,283...1,096,605
Ensembl chr15:1,094,276...1,096,688 		JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,319,264...15,328,034
Ensembl chr15:15,319,259...15,327,085 		JBrowse link
G HEYL hes related family bHLH transcription factor with YRPW motif like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,242,738...3,257,275
Ensembl chr15:3,235,611...3,303,445 		JBrowse link
G HIVEP3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,302,964...1,626,834
Ensembl chr15:1,464,865...1,623,027 		JBrowse link
G HMGB4 high mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,915,066...7,915,803
Ensembl chr15:7,915,096...7,915,920 		JBrowse link
G HPCA hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310 		JBrowse link
G HPCAL4 hippocalcin like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,196,653...3,205,191
Ensembl chr15:3,194,653...3,201,425 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,019,273...15,028,932
Ensembl chr15:15,027,472...15,028,671 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G HYI hydroxypyruvate isomerase (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,726,441...16,729,070
Ensembl chr15:16,726,274...16,729,062 		JBrowse link
G INPP5B inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,627,536...4,678,611
Ensembl chr15:4,628,278...4,678,574 		JBrowse link
G IPO13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,293,293...16,313,841
Ensembl chr15:16,293,293...16,313,571 		JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,621,969...14,669,728
Ensembl chr15:14,621,600...14,669,561 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
G KDM4A lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000 		JBrowse link
G KIAA0319L KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,583,519...6,674,868
Ensembl chr15:6,583,488...6,675,579 		JBrowse link
G KIF2C kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,558,024...15,579,371
Ensembl chr15:15,558,021...15,579,217 		JBrowse link
G KLF17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,147,898...16,160,548
Ensembl chr15:16,148,857...16,160,462 		JBrowse link
G LOC100855618 bone morphogenetic protein 8B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,325,155...3,357,888 JBrowse link
G LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832 		JBrowse link
G LOC482454 zinc finger protein 684 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,476,742...2,502,729
Ensembl chr15:2,477,400...2,503,684 		JBrowse link
G LOC610813 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,890,613...16,897,298
Ensembl chr15:16,893,406...16,894,053 		JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,886,029...5,888,859
Ensembl chr15:5,887,948...5,888,319 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325 		JBrowse link
G MANEAL mannosidase endo-alpha like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,729,209...4,733,832
Ensembl chr15:4,730,355...4,734,568 		JBrowse link
G MAP7D1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,046,055...6,068,701
Ensembl chr15:6,046,269...6,068,652 		JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,361,225...14,569,502
Ensembl chr15:14,361,281...14,569,878 		JBrowse link
G MEAF6 MYST/Esa1 associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,944,059...4,971,573
Ensembl chr15:4,943,430...4,964,391 		JBrowse link
G MED8 mediator complex subunit 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,780,514...16,786,013 JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,966,433...2,979,030
Ensembl chr15:2,966,461...2,978,968 		JBrowse link
G MIR30C-1 microRNA mir-30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,280,050...2,280,110
Ensembl chr15:2,280,039...2,280,121 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G MRPS15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,836,267...5,841,581
Ensembl chr15:5,836,348...5,841,087 		JBrowse link
G MTF1 metal regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,679,945...4,723,111
Ensembl chr15:4,680,372...4,717,561 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G MYCBP MYC binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,865,175...3,870,938
Ensembl chr15:3,865,175...3,870,984 		JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,975,757...3,019,313
Ensembl chr15:3,006,409...3,013,381 		JBrowse link
G NASP nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,742,008...14,782,186
Ensembl chr15:14,742,012...14,808,592 		JBrowse link
G NCDN neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,573,936...6,583,168
Ensembl chr15:6,574,614...6,583,109 		JBrowse link
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,741,863...3,748,973
Ensembl chr15:3,741,867...3,821,625 		JBrowse link
G NFYC nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,268,050...2,334,939
Ensembl chr15:2,268,102...2,318,605 		JBrowse link
G NT5C1A 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,209,771...3,230,104
Ensembl chr15:3,209,869...3,222,983 		JBrowse link
G OSCP1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,857,122...5,876,457
Ensembl chr15:5,852,139...5,876,450 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:603,436...621,839
Ensembl chr15:603,329...621,568 		JBrowse link
G PHC2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:67,993,587...68,115,307
Ensembl chr 2:67,993,366...68,115,324 		JBrowse link
G PLK3 polo like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,519,042...15,523,960
Ensembl chr15:15,519,026...15,524,230 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G POU3F1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,547,868...4,549,469
Ensembl chr15:4,547,920...4,549,469 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:813,435...817,732
Ensembl chr15:813,870...816,825 		JBrowse link
G PPIE peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,156,067...3,173,028
Ensembl chr15:3,153,628...3,172,988 		JBrowse link
G PPIH peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:671,323...689,627
Ensembl chr15:671,324...689,544 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,815,428...2,886,474
Ensembl chr15:2,859,979...2,894,425 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971 		JBrowse link
G PSMB2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,511,281...6,544,859
Ensembl chr15:6,511,325...6,544,857 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673 		JBrowse link
G RHBDL2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,805,257...3,854,983
Ensembl chr15:3,804,777...3,854,612 		JBrowse link
G RIMKLA ribosomal modification protein rimK like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:853,705...888,721
Ensembl chr15:856,719...889,138 		JBrowse link
G RIMS3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,353,876...2,391,742
Ensembl chr15:2,353,693...2,404,431 		JBrowse link
G RLF RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,723,511...2,815,305
Ensembl chr15:2,723,272...2,815,540 		JBrowse link
G RNF19B ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,413,020...68,435,216
Ensembl chr 2:68,413,108...68,434,526 		JBrowse link
G RNF220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,664,025...15,898,564
Ensembl chr15:15,664,876...15,891,748 		JBrowse link
G RPS8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,542,569...15,545,285
Ensembl chr15:15,542,580...15,545,163 		JBrowse link
G RRAGC Ras related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,875,193...3,892,501
Ensembl chr15:3,874,116...3,892,504 		JBrowse link
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800 		JBrowse link
G S100PBP S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 2:68,495,783...68,535,847
Ensembl chr 2:68,496,880...68,535,609 		JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:1,917,503...2,056,325
Ensembl chr15:1,917,509...2,058,904 		JBrowse link
G SF3A3 splicing factor 3a subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,595,812...4,620,565 JBrowse link
G SFPQ splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,879,955...6,896,309
Ensembl chr15:6,880,065...6,888,004 		JBrowse link
G SH3D21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,941,581...5,954,878
Ensembl chr15:5,934,095...5,954,355 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,235,342...16,267,161
Ensembl chr15:16,235,482...16,267,933 		JBrowse link
G SLFNL1 schlafen like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,060,354...2,065,698
Ensembl chr15:2,061,707...2,065,698 		JBrowse link
G SMAP2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,568,287...2,614,963
Ensembl chr15:2,569,439...2,618,636 		JBrowse link
G SMIM12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:7,121,532...7,126,450
Ensembl chr15:7,121,189...7,126,450 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,924,035...4,934,565
Ensembl chr15:4,924,178...4,933,724 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,324,752...16,434,256
Ensembl chr15:16,324,899...16,401,616 		JBrowse link
G STK40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,894,125...5,934,461
Ensembl chr15:5,894,933...5,932,791 		JBrowse link
G SVBP small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:551,514...558,528
Ensembl chr15:551,873...558,475 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325 		JBrowse link
G TEKT2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,122,855...6,126,411
Ensembl chr15:6,122,859...6,126,617 		JBrowse link
G TESK2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,871,104...15,014,896
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G TFAP2E transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,552,255...6,556,863 JBrowse link
G THRAP3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:5,955,469...6,022,442
Ensembl chr15:5,956,316...6,021,875 		JBrowse link
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:16,838,267...16,857,004
Ensembl chr15:16,838,582...16,856,946 		JBrowse link
G TMCO2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,714,751...2,717,545
Ensembl chr15:2,714,744...2,717,434 		JBrowse link
G TMEM53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,640,232...15,661,829
Ensembl chr15:15,640,342...15,678,994 		JBrowse link
G TMEM54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,458,489...68,464,684
Ensembl chr 2:68,458,179...68,465,185 		JBrowse link
G TMEM69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,666,926...14,671,839
Ensembl chr15:14,667,231...14,671,622 		JBrowse link
G TOE1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,014,790...15,018,285
Ensembl chr15:15,015,098...15,018,276 		JBrowse link
G TRAPPC3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,069,003...6,085,709
Ensembl chr15:6,074,486...6,085,423 		JBrowse link
G TRIM62 tripartite motif containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,247,138...68,265,530
Ensembl chr 2:68,247,139...68,264,754 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:3,013,928...3,071,029
Ensembl chr15:3,013,666...3,071,034 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010 		JBrowse link
G UTP11 UTP11 small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,569,002...4,579,065
Ensembl chr15:4,568,202...4,579,023 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C OMIM
ClinVar		 PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
G YBX1 Y-box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:646,301...666,347
Ensembl chr15:646,584...666,329 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000 		JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371 		JBrowse link
G ZFP69 ZFP69 zinc finger protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,510,760...2,526,715
Ensembl chr15:2,512,402...2,547,699 		JBrowse link
G ZFP69B ZFP69 zinc finger protein B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,535,969...2,547,614
Ensembl chr15:2,512,402...2,547,699 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		JBrowse link
G ZMYM1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,918,292...6,946,293
Ensembl chr15:6,918,589...6,937,638 		JBrowse link
G ZMYM4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,677,596...6,800,579
Ensembl chr15:6,691,008...6,827,949 		JBrowse link
G ZMYM6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:6,965,362...7,006,314
Ensembl chr15:6,933,847...7,006,188 		JBrowse link
G ZMYND12 zinc finger MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:817,339...842,089
Ensembl chr15:817,384...842,087 		JBrowse link
G ZNF362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:68,142,574...68,182,938
Ensembl chr 2:68,142,342...68,168,440 		JBrowse link
G ZNF691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:519,467...524,757
Ensembl chr15:520,091...520,954 		JBrowse link
G ZSCAN20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 2:67,939,840...67,959,524
Ensembl chr 2:67,939,744...67,953,209 		JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr15:15,109,965...15,312,935
Ensembl chr15:15,110,030...15,311,045 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate D 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 NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate d OMIM
ClinVar		 PMID:7505151 PMID:7527371 PMID:7581451 PMID:8816708 PMID:8990016 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E OMIM
ClinVar		 PMID:6054293 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21866090 More... NCBI chr 8:72,275,209...72,284,991 JBrowse link
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F | ClinVar Annotator: match by term: GNB4-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23434117 PMID:25741868 More... NCBI chr34:12,818,063...12,849,822
Ensembl chr34:12,822,104...12,876,865 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G OMIM
ClinVar		 PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP276 cilia and flagella associated protein 276 ISO MouseDO NCBI chr 6:42,681,303...42,692,123
Ensembl chr 6:42,682,004...42,692,341 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:17932099 More... NCBI chr16:6,342,772...6,373,580
Ensembl chr16:6,342,772...6,373,580 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 PMID:32376792 PMID:34255403 NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:68,535,402...68,566,197
Ensembl chr 2:68,535,447...68,565,439 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A 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 recessive intermediate A ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:4,658,692...4,682,667
Ensembl chr 9:4,658,090...4,679,096 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A OMIM
ClinVar		 PMID:11743580 PMID:12499475 PMID:12566285 PMID:14561495 PMID:15944907 More... NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B OMIM
ClinVar		 PMID:20920668 PMID:23596069 PMID:24033266 PMID:25356970 PMID:25741868 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C OMIM
ClinVar		 PMID:16199547 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 More... NCBI chr 5:60,321,453...60,347,393
Ensembl chr 5:60,321,465...60,348,088 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC477508 cytochrome c oxidase subunit 6A1, mitochondrial ISO ClinVar Annotator: match by term: COX6A1-related condition | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D OMIM
ClinVar		 PMID:25152455 PMID:25741868 PMID:26302975 PMID:28492532 NCBI chr26:16,346,760...16,349,042 JBrowse link
Charcot-Marie-Tooth disease type 1 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 I ClinVar NCBI chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814 		JBrowse link
G CDRT4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr 5:38,983,194...39,015,364
Ensembl chr 5:38,983,243...39,022,283 		JBrowse link
G CFAP126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:21,158,212...21,176,889
Ensembl chr38:21,158,108...21,161,261 		JBrowse link
G DUSP12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:20,912,543...20,921,137
Ensembl chr38:20,912,546...20,921,125 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:20,980,777...20,994,403 JBrowse link
G FCRLA Fc receptor like A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:20,955,955...20,962,646
Ensembl chr38:20,955,944...20,962,646 		JBrowse link
G FCRLB Fc receptor like B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:20,943,351...20,950,836 JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 PMID:28492532 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25439726 PMID:26922252 PMID:28492532 NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		JBrowse link
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 6:31,229,153...31,259,670 JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:12207933 PMID:20493460 More... NCBI chr 5:38,023,858...38,066,548
Ensembl chr 5:38,023,684...38,065,487 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:3467805 PMID:6099985 PMID:7504284 PMID:7505151 PMID:7506095 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NRBF2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 4:14,958,142...14,991,146
Ensembl chr 4:14,958,226...14,990,325 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:1303230 PMID:1303281 PMID:1552943 PMID:1564512 PMID:1677316 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:25614874 More... NCBI chr 1:113,279,940...113,294,042 JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 PMID:32122354 NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:16199547 PMID:20220177 PMID:25741868 PMID:27068304 PMID:28492532 NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
G TEKT3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr 5:38,872,664...38,913,114
Ensembl chr 5:38,872,665...38,912,497 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDRT4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 5:38,983,194...39,015,364
Ensembl chr 5:38,983,243...39,022,283 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G FBXW10B F-box and WD repeat domain containing 10B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 5:39,102,742...39,138,610
Ensembl chr 5:39,102,791...39,138,382 		JBrowse link
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 5:38,023,858...38,066,548
Ensembl chr 5:38,023,684...38,065,487 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: HMSN 1A ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 More... NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G NRG1 neuregulin 1 ISO RGD PMID:30931926 RGD:405650604 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A OMIM
ClinVar		 PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
G TEKT3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 5:38,872,664...38,913,114
Ensembl chr 5:38,872,665...38,912,497 		JBrowse link
Charcot-Marie-Tooth disease type 1B 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 1B, WITH FOCALLY FOLDED MYELIN SHEATHS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB OMIM
ClinVar		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:26378787 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G ATF7IP2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:32,078,700...32,128,491
Ensembl chr 6:32,079,186...32,118,658 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:33,338,577...33,345,125
Ensembl chr 6:33,338,571...33,343,750 		JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678 		JBrowse link
G DEXI Dexi homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,759,660...31,771,792
Ensembl chr 6:31,759,580...31,771,344 		JBrowse link
G EMP2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:32,026,908...32,060,447
Ensembl chr 6:32,026,916...32,057,693 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:33,124,932...33,151,221
Ensembl chr 6:33,126,988...33,151,466 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C | ClinVar Annotator: match by term: LITAF-related condition OMIM
ClinVar		 PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chr 6:31,229,153...31,259,670 JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,900,540...31,922,087
Ensembl chr 6:31,896,596...31,921,989 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025 		JBrowse link
G PRM2 protamine 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,492,208...31,492,852
Ensembl chr 6:31,492,208...31,492,852 		JBrowse link
G PRM3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,493,084...31,494,775 JBrowse link
G RMI2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,440,493...31,445,318
Ensembl chr 6:31,441,517...31,445,310 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
G TEKT5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,936,574...31,976,260
Ensembl chr 6:31,936,653...31,976,183 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532
G TNP2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,498,361...31,498,740
Ensembl chr 6:31,426,715...31,499,842 		JBrowse link
G TVP23A trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:31,870,930...31,901,575
Ensembl chr 6:31,870,719...31,900,838 		JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr 6:33,277,328...33,315,601
Ensembl chr 6:33,277,444...33,314,491 		JBrowse link
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d | ClinVar Annotator: match by term: HMSN 1D OMIM
ClinVar		 PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E OMIM
ClinVar		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC487015 myelin P2 protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G | ClinVar Annotator: match by term: PMP2-related condition OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26828946 More... NCBI chr29:28,619,027...28,625,677
Ensembl chr29:28,622,033...28,625,586 		JBrowse link
Charcot-Marie-Tooth Disease Type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION OMIM
ClinVar		 PMID:2965322 PMID:16652333 PMID:21576112 PMID:23328402 PMID:25741868 More... NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719 		JBrowse link
Charcot-Marie-Tooth Disease Type 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I | ClinVar Annotator: match by term: POLR3B-related condition OMIM
ClinVar		 PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614 		JBrowse link
Charcot-Marie-Tooth Disease Type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 susceptibility ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J ClinVar
OMIM		 PMID:24627108 PMID:25741868 PMID:27549087 PMID:32949214 PMID:36302985 NCBI chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938 		JBrowse link
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 chr 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		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 chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429 		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 chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		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 chr 2:84,489,269...84,501,732
Ensembl chr 2:84,490,638...84,501,919 		JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160 		JBrowse link
G AQP1 aquaporin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,961,041...42,964,053 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 chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488 		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 chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456 		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 chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		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 chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026 		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 chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178 		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 chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		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 chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119 		JBrowse link
G C18H11orf98 chromosome 18 C11orf98 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:53,992,413...53,995,549
Ensembl chr18:53,988,600...53,995,543 		JBrowse link
G C2H1orf167 chromosome 2 C1orf167 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,457,743...84,477,328 JBrowse link
G C7H1orf43 chromosome 7 C1orf43 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920 		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 chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863 		JBrowse link
G CENPS centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:85,379,378...85,389,175 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 chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		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 chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875 		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 chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033 		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 chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394 		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 chr 5:76,463,465...76,490,406
Ensembl chr 5:76,463,465...76,490,376 		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 chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622 		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 chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833 		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 chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142 		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 chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894 		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 chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062 		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 chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374 		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 chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G DDX19A DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:76,343,328...76,365,443
Ensembl chr 5:76,314,725...76,364,587 		JBrowse link
G DDX19B DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:76,314,675...76,336,318
Ensembl chr 5:76,314,725...76,364,587 		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 chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772 		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 chr 2:84,637,964...84,676,895
Ensembl chr 2:84,648,859...84,711,199 		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 chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		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 chr 7:42,368,898...42,369,686 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 chr 2:84,515,881...84,525,797
Ensembl chr 2:84,515,811...84,526,387 		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 chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		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 chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615 		JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130 		JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,563,256...84,568,507
Ensembl chr 2:84,556,547...84,568,491 		JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,557,468...84,562,578 JBrowse link
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,549,519...84,554,176
Ensembl chr 2:84,549,560...84,580,756 		JBrowse link
G FCSK fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:76,442,597...76,463,165
Ensembl chr 5:76,443,411...76,462,771 		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 chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		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 chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471 		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 chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		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 chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923 		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 chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		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 chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555 		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 chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665 		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 chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964 		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 chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117 		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 chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710 		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 chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595 		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 chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921 		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 chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		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 chr 4:60,953,530...61,001,912
Ensembl chr 4:60,985,195...60,985,647 		JBrowse link
G IL34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:76,601,310...76,612,665
Ensembl chr 5:76,555,214...76,625,012 		JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		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 chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940 		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 chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742 		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 chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003 		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 chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047 		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 chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,349,640...84,355,645
Ensembl chr 2:84,349,330...84,355,645 		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 chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964 		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 chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		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 chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600 		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 chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299 		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 chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548 		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 chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC119870565 small nucleolar RNA SNORA42/SNORA80 family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LOC119872072 small nucleolar RNA SNORD111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LOC119872073 small nucleolar RNA SNORD111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LOC119872739 small Cajal body-specific RNA 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LOC479600 beta-catenin-interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275 		JBrowse link
G LOC489397 nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:19,061,388...19,064,733 JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:53,971,590...53,973,958
Ensembl chr18:53,972,490...53,973,203 		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 chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		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 chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750 		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 chr 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356 		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 chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797 		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 chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032 		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 chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197 		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 chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937 		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 chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628 		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 chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		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 chr 2:84,269,126...84,275,214
Ensembl chr 2:84,269,267...84,274,787 		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 chr14:43,469,740...43,573,999
Ensembl chr14:43,469,784...43,573,999 		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 chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		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 chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879 		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 chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		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 chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		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 chr 5:76,613,388...76,633,873
Ensembl chr 5:76,614,570...76,629,867 		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 chr14:42,890,343...42,928,985
Ensembl chr14:42,899,944...42,930,117 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701 		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 chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		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 chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862 		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 chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		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 chr14:43,162,671...43,226,948
Ensembl chr14:43,163,571...43,227,103 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,395,844...84,397,473 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 chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		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 chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383 		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 chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272 		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 chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		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 chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		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 chr14:42,807,290...42,864,207
Ensembl chr14:42,807,290...42,889,602 		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 chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		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 chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186 		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 chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091 		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 chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331 		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 chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057 		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 chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		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 chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345 		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 chr 7:42,294,764...42,299,097 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 chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		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 chr 5:76,490,622...76,543,877
Ensembl chr 5:76,490,682...76,543,877 		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 chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122 		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 chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276 		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 chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858 		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 chr 5:62,790,116...62,825,644
Ensembl chr 5:62,790,157...62,825,388 		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 chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791 		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 chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322 		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 chr10:35,879,880...35,908,203
Ensembl chr10:35,883,245...35,908,569 		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 chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575 		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 chr 5:62,640,420...62,669,606
Ensembl chr 5:62,639,629...62,667,790 		JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087 		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 chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421 		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 chr 5:76,377,782...76,427,998
Ensembl chr 5:76,379,702...76,394,525 		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 chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		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 chr33:7,240,912...7,265,526
Ensembl chr33:7,236,613...7,265,309 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171 		JBrowse link
G TMEM201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:62,831,449...62,853,437
Ensembl chr 5:62,834,884...62,851,467 		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 chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816 		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 chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		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 chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296 		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 chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557 		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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		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 chr 7:41,372,960...41,381,514 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 chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848 		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 chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747 		JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215 		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 chr 2:84,803,338...84,813,030
Ensembl chr 2:84,804,935...84,813,344 		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 chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:53,977,937...53,982,108
Ensembl chr18:53,978,062...53,982,111 		JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:53,984,203...53,985,496
Ensembl chr18:53,984,771...53,985,422 		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 chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353 		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 chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529 		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 chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436 		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 chr14:43,029,270...43,123,292 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 chr21:22,833,659...22,850,300
Ensembl chr21:22,834,518...22,851,260 		JBrowse link
G KIF1B kinesin family member 1B susceptibility ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1 ClinVar
OMIM		 PMID:9409358 PMID:9536098 PMID:11389829 PMID:16199547 PMID:17576681 More... NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		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 chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		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 chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		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 chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		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 chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		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 chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		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:9536098 PMID:12527753 PMID:15064763 More... NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		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 chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		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 chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		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 chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		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 chr23:8,420,468...8,527,414
Ensembl chr23:8,420,472...8,527,383 		JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732 		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:2733290 PMID:2753225 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		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:25741868 PMID:28492532 PMID:30039206 PMID:32324310 More... NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032 		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 chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150 		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 chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		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: 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 chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		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 chr25:31,943,649...31,997,101
Ensembl chr25:31,947,094...31,996,022 		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 chr25:32,046,165...32,257,011
Ensembl chr25:32,046,527...32,283,658 		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 chr25:31,478,361...31,671,018
Ensembl chr25:31,478,349...31,668,555 		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 chr25:32,038,631...32,043,192
Ensembl chr25:32,039,613...32,043,028 		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 chr25:31,998,344...32,035,575
Ensembl chr25:31,996,289...32,034,089 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		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 chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		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 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 chr17:21,280,523...21,290,967
Ensembl chr17:21,281,361...21,290,339 		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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		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 chr17:21,257,660...21,278,410
Ensembl chr17:21,257,706...21,278,274 		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 chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312 		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:8816708 PMID:8990016 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		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 chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		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:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		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 chr15:50,973,758...51,104,422 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:19364651 PMID:21145000 PMID:21684747 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDRT4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 5:38,983,194...39,015,364
Ensembl chr 5:38,983,243...39,022,283 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant OMIM
ClinVar		 PMID:10369870 PMID:10371530 PMID:11523566 PMID:15947997 PMID:16198564 More... NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G FBXW10B F-box and WD repeat domain containing 10B ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 5:39,102,742...39,138,610
Ensembl chr 5:39,102,791...39,138,382 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease ClinVar PMID:9633821 PMID:10737979 PMID:15241803 PMID:15947997 PMID:20301548 More... NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 5:38,023,858...38,066,548
Ensembl chr 5:38,023,684...38,065,487 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease OMIM
ClinVar		 PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dejerine-Sottas disease OMIM
ClinVar		 PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease OMIM
ClinVar		 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 More... NCBI chr 1:113,279,940...113,294,042 JBrowse link
G TEKT3 tektin 3 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 5:38,872,664...38,913,114
Ensembl chr 5:38,872,665...38,912,497 		JBrowse link
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG1L AFG1 like ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,312,922...65,516,207
Ensembl chr12:65,313,140...65,515,992 		JBrowse link
G AK9 adenylate kinase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 PMID:30740813 NCBI chr12:66,381,215...66,508,559
Ensembl chr12:66,389,190...66,500,273 		JBrowse link
G ARMC2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,829,110...65,933,378
Ensembl chr12:65,824,672...65,933,098 		JBrowse link
G BEND3 BEN domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,302,403...64,324,396
Ensembl chr12:64,306,140...64,322,725 		JBrowse link
G CCN4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr13:29,648,720...29,683,822
Ensembl chr13:29,648,639...29,679,732 		JBrowse link
G CD164 CD164 molecule ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186 		JBrowse link
G CEP57L1 centrosomal protein 57 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:66,058,098...66,133,632
Ensembl chr12:66,058,418...66,127,027 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr13:29,128,500...29,199,354
Ensembl chr13:29,128,504...29,199,323 		JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chr  X:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More... NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More... NCBI chr27:16,252,405...16,464,099
Ensembl chr27:16,254,542...16,464,112 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More... NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 More... NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 PMID:30740813 NCBI chr12:66,350,459...66,358,391
Ensembl chr12:66,350,427...66,360,615 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 		ClinVar PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More... NCBI chr21:5,194,772...5,316,441
Ensembl chr21:5,194,604...5,315,375 		JBrowse link
G MTRES1 mitochondrial transcription rescue factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,278,569...64,293,999
Ensembl chr12:64,244,529...64,303,579 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
G NR2E1 nuclear receptor subfamily 2 group E member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,209,177...65,230,274
Ensembl chr12:65,209,542...65,228,998 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,085,456...65,120,827
Ensembl chr12:65,087,243...65,120,832 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,371,548...64,620,652
Ensembl chr12:64,338,950...64,620,367 		JBrowse link
G PHF20L1 PHD finger protein 20 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr13:29,260,381...29,338,345
Ensembl chr13:29,260,373...29,336,623 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
G PPIL6 peptidylprolyl isomerase like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:66,316,326...66,347,991
Ensembl chr12:66,316,425...66,342,950 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 		ClinVar PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More... NCBI chr 1:113,279,940...113,294,042 JBrowse link
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:63,972,423...64,003,506 JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:63,926,803...63,972,417
Ensembl chr12:63,926,799...63,972,369 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789 		JBrowse link
G SBF2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More... NCBI chr21:33,005,921...33,461,258
Ensembl chr21:33,007,380...33,461,115 		JBrowse link
G SCML4 Scm polycomb group protein like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,851,495...64,937,140
Ensembl chr12:64,851,740...64,945,496 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,983,442...65,028,573 JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732 		JBrowse link
G SESN1 sestrin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,958,995...66,057,369
Ensembl chr12:65,960,066...66,057,035 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 		ClinVar PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More... NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
G SLA Src like adaptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr13:29,503,304...29,590,679
Ensembl chr13:29,504,867...29,569,773 		JBrowse link
G SMPD2 sphingomyelin phosphodiesterase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:66,347,628...66,350,322
Ensembl chr12:66,323,022...66,350,322 		JBrowse link
G SNX3 sorting nexin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:65,252,175...65,294,620
Ensembl chr12:65,252,175...65,294,611 		JBrowse link
G SOBP sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358 		JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040 		JBrowse link
G TMEM71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr13:29,217,384...29,249,145
Ensembl chr13:29,218,733...29,249,289 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 PMID:32376792 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chr27:42,764,184...42,914,591
Ensembl chr27:42,765,181...42,912,806 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 PMID:30740813 NCBI chr12:66,368,160...66,380,631
Ensembl chr12:66,369,083...66,380,759 		JBrowse link
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A OMIM
ClinVar		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr29:22,701,531...22,785,712
Ensembl chr29:22,703,647...22,785,415 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117 		JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741 		JBrowse link
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 OMIM
ClinVar		 PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More... NCBI chr21:5,194,772...5,316,441
Ensembl chr21:5,194,604...5,315,375 		JBrowse link
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SBF2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 OMIM
ClinVar		 PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chr21:33,005,921...33,461,258
Ensembl chr21:33,007,380...33,461,115 		JBrowse link
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP6R2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 ClinVar PMID:23749797 PMID:33987933 NCBI chr10:16,846,250...16,929,855
Ensembl chr10:16,846,899...16,929,884 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789 		JBrowse link
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135 		JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDRG1 N-myc downstream regulated 1 ISO
IAGP 		Polyneuropathy, NDRG1-related
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D 		OMIM
OMIA
ClinVar		 PMID:9298480 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 More... NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E ClinVar PMID:25741868 NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E OMIM
ClinVar		 PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More... NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:7527371 PMID:10737979 PMID:12805115 PMID:12807974 PMID:12845552 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition OMIM
ClinVar		 PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:113,279,940...113,294,042 JBrowse link
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HK1 hexokinase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type OMIM
ClinVar		 PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More... NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H | ClinVar Annotator: match by term: FGD4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chr27:16,252,405...16,464,099
Ensembl chr27:16,254,542...16,464,112 		JBrowse link
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More... NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K OMIM
ClinVar		 PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More... NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		JBrowse link
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 ClinVar NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
Charcot-Marie-Tooth disease type 6 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 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY ClinVar PMID:8406488 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16437557 More... NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY ClinVar PMID:25741868 PMID:31673878 NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY ClinVar PMID:25741868 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO OMIM:601152 | OMIM:616505 MouseDO NCBI chr 3:1,700,310...1,715,841
Ensembl chr 3:1,702,905...1,756,025 		JBrowse link
Charcot-Marie-Tooth Disease Type 6A 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 6A | ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY OMIM
ClinVar		 PMID:9409358 PMID:9536098 PMID:10732809 PMID:15064763 PMID:15549395 More... NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
Charcot-Marie-Tooth Disease Type 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, type VIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 3:1,700,310...1,715,841
Ensembl chr 3:1,702,905...1,756,025 		JBrowse link
Charcot-Marie-Tooth Disease Type 6C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | ClinVar Annotator: match by term: PDXK-related condition OMIM
ClinVar		 PMID:25741868 PMID:31187503 PMID:32522499 NCBI chr31:37,686,002...37,710,059
Ensembl chr31:37,685,492...37,707,767 		JBrowse link
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17436253 PMID:17576681 PMID:20362274 More... NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G APLN apelin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,629,346...81,688,086
Ensembl chr  X:81,629,465...81,688,099 		JBrowse link
G BCORL1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:101,153,952...101,215,365
Ensembl chr  X:101,154,823...101,214,175 		JBrowse link
G CLDN2 claudin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,456,313...80,491,944
Ensembl chr  X:80,483,333...80,530,012 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,783,424...80,825,791
Ensembl chr  X:80,784,080...80,825,809 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X ClinVar PMID:23999528 PMID:25741868 PMID:26227883 PMID:29473052 PMID:31217940 NCBI chr  X:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:101,220,524...101,268,050
Ensembl chr  X:101,221,573...101,259,818 		JBrowse link
G FRMPD3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,077,242...81,137,437
Ensembl chr  X:81,110,672...81,136,512 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:1211842 PMID:2987105 PMID:7477983 PMID:7580242 PMID:7833935 More... NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G GUCY2F guanylate cyclase 2F, retinal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:82,648,673...82,751,394
Ensembl chr  X:82,649,601...82,751,394 		JBrowse link
G IRS4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:82,275,642...82,292,398
Ensembl chr  X:82,276,187...82,292,375 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:82,844,188...82,845,641
Ensembl chr  X:82,845,064...82,846,083 		JBrowse link
G LOC102153485 testis-expressed protein 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:78,682,526...78,684,134 JBrowse link
G MID2 midline 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,267,037...81,467,613
Ensembl chr  X:81,296,249...81,463,210 		JBrowse link
G MORC4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,497,473...80,550,625
Ensembl chr  X:80,497,504...80,551,569 		JBrowse link
G NUP62CL nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,708,829...80,787,441
Ensembl chr  X:80,729,667...80,784,034 		JBrowse link
G NXT2 nuclear transport factor 2 like export factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:82,787,663...82,794,575
Ensembl chr  X:82,787,277...82,792,803 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:100,760,302...100,817,673
Ensembl chr  X:100,757,373...100,831,500 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked ClinVar PMID:3278127 PMID:8702702 PMID:8968763 PMID:9536098 PMID:16199547 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
G PSMD10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,625,288...81,632,175
Ensembl chr  X:81,625,141...81,632,129 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20818383 More... NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
G RBM41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,648,486...80,704,403
Ensembl chr  X:80,651,475...80,704,351 		JBrowse link
G RIPPLY1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,457,529...80,461,281
Ensembl chr  X:80,457,912...80,460,765 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:100,989,605...101,003,162
Ensembl chr  X:100,989,685...101,001,885 		JBrowse link
G TBC1D8B TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:80,360,978...80,427,762
Ensembl chr  X:80,360,760...80,435,642 		JBrowse link
G TSC22D3 TSC22 domain family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,235,489...81,298,290
Ensembl chr  X:81,235,809...81,298,192 		JBrowse link
G UTP14A UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:101,099,187...101,117,388 JBrowse link
G VSIG1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:81,574,202...81,618,242
Ensembl chr  X:81,574,025...81,616,879 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:100,951,679...100,979,666
Ensembl chr  X:100,951,888...100,978,766 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:101,011,072...101,096,394
Ensembl chr  X:100,996,607...101,043,228 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 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: HMSN, X-LINKED ClinVar PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related disorder | ClinVar Annotator: match by term: HMSN, X-LINKED OMIM
ClinVar		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:18465152 PMID:20876471 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: HMSN, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr10:16,823,456...16,845,800
Ensembl chr10:16,828,599...16,845,789 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chr  X:19,994,383...20,058,979
Ensembl chr  X:19,994,393...20,058,485 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME OMIM
ClinVar		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		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:24354524 PMID:25741868 PMID:26072516 PMID:26752306 More... NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17636067 PMID:17825552 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
Charcot-Marie-Tooth Disease, Dominant Intermediate 3 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 dominant intermediate 3 ClinVar PMID:7527371 PMID:8816708 PMID:9888385 PMID:10737979 PMID:12805115 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		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 chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD10 homeobox D10 ISO ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker-bottom foot deformity OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      musculoskeletal system disease 7931
        neuromuscular disease 3192
          Charcot-Marie-Tooth disease 711
            Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
            Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
            Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 1
            Charcot-Marie-Tooth disease intermediate type + 255
            Charcot-Marie-Tooth disease type 1 + 61
            Charcot-Marie-Tooth disease type 2 + 312
            Charcot-Marie-Tooth disease type 3 10
            Charcot-Marie-Tooth disease type 4 + 62
            Charcot-Marie-Tooth disease type 5 1
            Charcot-Marie-Tooth disease type 6 + 5
            Charcot-Marie-Tooth disease type 7 0
            Charcot-Marie-Tooth disease type X + 37
            Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1 0
            Mixed Polyneuropathy of Early Onset 0
            Palmoplantar Keratoderma, Spastic Paralysis 0
            autosomal dominant distal hereditary motor neuronopathy 1 1
            congenital vertical talus 1
Path 2
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      nervous system disease 13505
        central nervous system disease 12081
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3351
              motor peripheral neuropathy 1285
                Charcot-Marie-Tooth disease 711
                  Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
                  Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
                  Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
                  Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 1
                  Charcot-Marie-Tooth disease intermediate type + 255
                  Charcot-Marie-Tooth disease type 1 + 61
                  Charcot-Marie-Tooth disease type 2 + 312
                  Charcot-Marie-Tooth disease type 3 10
                  Charcot-Marie-Tooth disease type 4 + 62
                  Charcot-Marie-Tooth disease type 5 1
                  Charcot-Marie-Tooth disease type 6 + 5
                  Charcot-Marie-Tooth disease type 7 0
                  Charcot-Marie-Tooth disease type X + 37
                  Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1 0
                  Mixed Polyneuropathy of Early Onset 0
                  Palmoplantar Keratoderma, Spastic Paralysis 0
                  autosomal dominant distal hereditary motor neuronopathy 1 1
                  congenital vertical talus 1
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