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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 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr11:59,102,237...59,119,042
Ensembl chr11:59,102,238...59,119,096 		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 chr 8:14,956,405...15,051,085
Ensembl chr 8:14,961,663...15,051,085 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191 		JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide 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:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147 		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 chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910 		JBrowse link
G Dctn1 dynactin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:24604904 PMID:24627108 PMID:25025039 More... NCBI chr 6:83,142,702...83,177,103
Ensembl chr 6:83,142,902...83,177,099 		JBrowse link
G Dctn2 dynactin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr10:127,102,131...127,117,828
Ensembl chr10:127,102,237...127,117,819 		JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406 		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 chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		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 chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		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 chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		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:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		JBrowse link
G Elp1 elongator complex protein 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 chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331 		JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:62,637,130...62,681,934
Ensembl chr18:62,637,226...62,681,766 		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 chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:19118816 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		JBrowse link
G Gan giant axonal neuropathy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
IMP 		DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
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
RGD		 PMID:257 PMID:9536098 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:1358634, RGD:12738398 NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		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:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gnb4 guanine nucleotide binding protein (G protein), beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 3:32,632,736...32,670,813
Ensembl chr 3:32,634,481...32,670,734 		JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity ISO RGD PMID:22189569 PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr10:75,667,676...75,673,253
Ensembl chr10:75,666,948...75,673,258 		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 chr 5:30,360,251...30,389,591
Ensembl chr 5:30,360,246...30,389,591 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		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 chr11:54,757,209...54,761,332
Ensembl chr11:54,757,209...54,761,327 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Hspb1 heat shock protein 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 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Hspb8 heat shock protein 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 More... NCBI chr 5:116,546,550...116,560,923
Ensembl chr 5:116,546,550...116,560,923 		JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr12:40,253,128...40,273,184
Ensembl chr12:40,251,566...40,298,503 		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 chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991 		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 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		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 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G Litaf LPS-induced TN factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr16:10,777,137...10,810,985
Ensembl chr16:10,777,139...10,884,021 		JBrowse link
G Lmna lamin A 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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 More... NCBI chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		JBrowse link
G Mars1 methionine-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 chr10:127,132,090...127,147,655
Ensembl chr10:127,132,090...127,147,655 		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 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Mme membrane metallo endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease 		CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:35212467 NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		JBrowse link
G Morc2a microrchidia 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease 		CTD
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... RGD:1358513 NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial 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:7,927...8,607
Ensembl chr MT:7,927...8,607 		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 chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777 		JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10094189 PMID:15933803 PMID:23430803 PMID:25741868 PMID:28492532 More... NCBI chr11:100,960,918...100,968,483
Ensembl chr11:100,960,838...100,968,498 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar
RGD		 PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 More... RGD:1358514 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 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 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 IMP RGD PMID:20553714 RGD:5684901 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase, isoenzyme 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:92,798,923...92,875,756
Ensembl chr  X:92,808,213...92,875,807 		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 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IMP 		DNA:missense mutation:cds:p.G107V (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... RGD:1358560, RGD:2312445, RGD:1358786 NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr15:79,025,525...79,035,974
Ensembl chr15:79,025,209...79,035,974 		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 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		JBrowse link
G Rab7 RAB7, 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 chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252 		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 chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694 		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 chr15:25,840,795...25,973,782
Ensembl chr15:25,843,266...25,973,773 		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 chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		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 chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129 		JBrowse link
G Scn11a sodium channel, voltage-gated, type XI, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 More... NCBI chr 9:119,582,829...119,654,522
Ensembl chr 9:119,582,825...119,654,522 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein 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 chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
G Sema5a sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr15:32,244,959...32,696,487
Ensembl chr15:32,244,956...32,696,487 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 PMID:28492532 NCBI chr11:117,090,487...117,253,151
Ensembl chr11:117,090,487...117,253,151 		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 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 chr 2:112,096,659...112,193,508
Ensembl chr 2:112,096,170...112,193,508 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease 		CTD
ClinVar		 PMID:26168012 PMID:28492532 NCBI chr18:31,713,217...31,743,585
Ensembl chr18:31,689,164...31,742,964 		JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062 		JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 2:122,065,320...122,095,818
Ensembl chr 2:122,065,230...122,095,821 		JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440 		JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 2:121,884,001...121,949,915
Ensembl chr 2:121,884,001...121,948,867 		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 chr13:53,486,784...53,531,401
Ensembl chr13:53,486,784...53,531,433 		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 chr12:87,351,832...87,435,129
Ensembl chr12:87,351,832...87,435,129 		JBrowse link
G Tfg Trk-fused gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr16:56,510,692...56,541,801
Ensembl chr16:56,510,695...56,537,813 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:8179305 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		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 chr 6:119,900,930...120,015,659
Ensembl chr 6:119,900,930...120,015,633 		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 4:129,083,595...129,113,033
Ensembl chr 4:129,083,553...129,113,400 		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 chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		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 chr18:62,637,130...62,681,934
Ensembl chr18:62,637,226...62,681,766 		JBrowse link
G Hspb1 heat shock protein 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 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Hspb8 heat shock protein 8 ISO
IAGP 		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A
OMIM:158590
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr 5:116,546,550...116,560,923
Ensembl chr 5:116,546,550...116,560,923 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		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 chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		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 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		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 chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:956253 PMID:1520078 PMID:2046044 PMID:2128891 PMID:4056805 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 polypeptide 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 chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		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 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		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 chr 1:173,161,825...173,195,214
Ensembl chr 1:173,160,825...173,195,261 		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 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 chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		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 chr 2:112,096,659...112,193,508
Ensembl chr 2:112,096,170...112,193,508 		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 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ OMIM
ClinVar		 PMID:28754666 PMID:31853710 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		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-Coenzyme A oxidase 1, palmitoyl ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr11:116,062,714...116,089,605
Ensembl chr11:116,062,714...116,089,871 		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 chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		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 chr 1:16,711,949...16,727,652
Ensembl chr 1:16,711,949...16,727,266 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:607831
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:12738397, RGD:12738396 NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Jph1 junctophilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K 		OMIM
CTD
ClinVar		 PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 1:17,012,328...17,168,132
Ensembl chr 1:17,034,784...17,168,113 		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 chr 1:16,758,680...16,779,829
Ensembl chr 1:16,758,275...16,779,835 		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 chr 1:16,735,415...16,748,501
Ensembl chr 1:16,735,431...16,748,499 		JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 1:16,611,012...16,689,676
Ensembl chr 1:16,611,014...16,689,713 		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 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 chr 5:116,546,550...116,560,923
Ensembl chr 5:116,546,550...116,560,923 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7842019 PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 More... NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296 		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 chr19:7,471,178...7,515,974
Ensembl chr19:7,471,405...7,517,039 		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 A530016L24Rik RIKEN cDNA A530016L24 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,455,829...112,466,362
Ensembl chr12:112,455,882...112,466,361 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Amn amnionless ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860 		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 chr12:110,942,854...110,945,516
Ensembl chr12:110,941,787...110,945,474 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993 		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 chr12:111,927,808...111,933,443
Ensembl chr12:111,927,809...111,933,411 		JBrowse link
G Bag5 BCL2-associated athanogene 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,675,922...111,679,690
Ensembl chr12:111,675,922...111,679,691 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		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 chr12:112,937,880...112,943,113
Ensembl chr12:112,940,102...112,942,565 		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 chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152 		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 chr12:112,783,849...112,793,141
Ensembl chr12:112,783,849...112,793,043 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,687,950...112,713,026
Ensembl chr12:112,686,889...112,713,026 		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 chr12:110,839,044...110,855,579
Ensembl chr12:110,839,044...110,855,579 		JBrowse link
G Ckb creatine kinase, brain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,635,789...111,638,772
Ensembl chr12:111,635,795...111,638,772 		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 chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872 		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 chr12:111,679,394...111,721,491
Ensembl chr12:111,679,695...111,721,487 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO
IAGP 		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:614228 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:16565160 More... NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 chr12:111,504,535...111,513,187
Ensembl chr12:111,504,450...111,513,186 		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 chr12:111,383,864...111,398,114
Ensembl chr12:111,383,451...111,398,112 		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 chr12:112,814,493...112,832,035
Ensembl chr12:112,814,493...112,831,848 		JBrowse link
G Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162 		JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991 		JBrowse link
G Jag2 jagged 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396 		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 chr12:112,109,378...112,148,181
Ensembl chr12:112,112,642...112,148,181 		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 chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278 		JBrowse link
G Mark3 MAP/microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,540,929...111,622,661
Ensembl chr12:111,540,957...111,622,655 		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 chr12:110,770,404...110,807,391
Ensembl chr12:110,774,232...110,807,373 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,897,911...112,905,762
Ensembl chr12:112,897,911...112,905,744 		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 chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021 		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 chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424 		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 chr12:111,794,892...111,874,549
Ensembl chr12:111,794,891...111,874,544 		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 chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496 		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 chr12:111,005,801...111,082,336
Ensembl chr12:111,005,785...111,082,335 		JBrowse link
G Rd3l retinal degeneration 3-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,945,625...111,947,751
Ensembl chr12:111,945,545...111,947,751 		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 chr12:112,611,262...112,615,586
Ensembl chr12:112,611,113...112,615,583 		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 chr12:111,937,922...112,035,288
Ensembl chr12:111,937,993...112,035,288 		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 chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828 		JBrowse link
G Tmem179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:112,466,618...112,477,594
Ensembl chr12:112,466,623...112,483,181 		JBrowse link
G Tnfaip2 tumor necrosis factor, alpha-induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,408,898...111,421,452
Ensembl chr12:111,408,903...111,421,452 		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 chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,644,539...111,650,336
Ensembl chr12:111,644,539...111,650,336 		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 chr12:110,701,459...110,770,709
Ensembl chr12:110,704,378...110,770,672 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		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 chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181 		JBrowse link
G Zfp839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr12:110,816,686...110,838,346
Ensembl chr12:110,816,687...110,836,430 		JBrowse link
G Zfyve21 zinc finger, FYVE domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr12:111,780,600...111,794,822
Ensembl chr12:111,780,604...111,798,626 		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
IAGP 		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:614436 		OMIM
ClinVar
MouseDO		 PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		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
IAGP 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q
OMIM:615025 		OMIM
ClinVar
MouseDO		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603 		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
IAGP 		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:616155 		OMIM
ClinVar
MouseDO		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		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 chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Mme membrane metallo endopeptidase 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 chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		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 chr10:126,911,154...126,929,039
Ensembl chr10:126,911,153...126,929,038 		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 chr10:128,104,568...128,107,119
Ensembl chr10:128,103,866...128,106,022 		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 chr10:127,157,829...127,165,816
Ensembl chr10:127,157,833...127,165,812 		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 chr10:127,018,390...127,025,952
Ensembl chr10:127,018,394...127,025,952 		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 chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,001,025...127,008,209
Ensembl chr10:127,001,094...127,008,199 		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 chr10:127,927,453...127,965,172
Ensembl chr10:127,927,446...127,965,172 		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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Dctn2 dynactin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,102,131...127,117,828
Ensembl chr10:127,102,237...127,117,819 		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 chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Dtx3 deltex 3, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,026,242...127,032,367
Ensembl chr10:127,026,247...127,031,597 		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 chr10:126,868,654...126,877,883
Ensembl chr10:126,866,873...126,877,382 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:128,030,504...128,045,873
Ensembl chr10:128,030,326...128,045,873 		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 chr10:127,585,471...127,587,667
Ensembl chr10:127,583,145...127,587,601 		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 chr10:127,826,800...127,843,517
Ensembl chr10:127,826,805...127,843,480 		JBrowse link
G Il23a interleukin 23, alpha subunit p19 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Inhbc inhibin beta-C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,192,191...127,206,417
Ensembl chr10:127,192,191...127,206,300 		JBrowse link
G Inhbe inhibin beta-E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,185,271...127,187,717
Ensembl chr10:127,184,726...127,190,280 		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 chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		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 chr10:126,891,919...126,896,053
Ensembl chr10:126,890,880...126,896,053 		JBrowse link
G Mars1 methionine-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 chr10:127,132,090...127,147,655
Ensembl chr10:127,132,090...127,147,655 		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 chr10:127,117,825...127,126,738
Ensembl chr10:127,117,825...127,124,887 		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 chr10:126,877,287...126,882,234
Ensembl chr10:126,877,283...126,882,234 		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 chr10:128,061,679...128,067,681
Ensembl chr10:128,061,707...128,067,681 		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 chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		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 chr10:127,496,787...127,502,572
Ensembl chr10:127,496,787...127,504,437 		JBrowse link
G Naca nascent polypeptide-associated complex alpha polypeptide ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,869,144...127,884,506
Ensembl chr10:127,871,444...127,884,506 		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 chr10:127,345,143...127,353,023
Ensembl chr10:127,350,836...127,353,023 		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 chr10:127,512,934...127,536,918
Ensembl chr10:127,502,770...127,536,918 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,361,342...127,370,428
Ensembl chr10:127,361,342...127,370,428 		JBrowse link
G Os9 amplified in osteosarcoma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:126,928,880...126,957,029
Ensembl chr10:126,931,519...126,957,000 		JBrowse link
G Pan2 PAN2 poly(A) specific ribonuclease subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:128,135,106...128,157,227
Ensembl chr10:128,139,204...128,157,227 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase, type II, gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,032,936...127,047,508
Ensembl chr10:127,032,936...127,047,454 		JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Prim1 DNA primase, p49 subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,851,084...127,865,899
Ensembl chr10:127,851,041...127,865,906 		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 chr10:127,894,851...127,913,123
Ensembl chr10:127,894,823...127,913,141 		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 chr10:127,216,201...127,335,253
Ensembl chr10:127,216,196...127,335,253 		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 chr10:127,965,339...128,016,166
Ensembl chr10:127,967,427...128,016,166 		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 chr10:127,636,959...127,651,715
Ensembl chr10:127,637,021...127,682,434 		JBrowse link
G Sdr9c7 4short 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 chr10:127,734,404...127,747,630
Ensembl chr10:127,734,387...127,747,630 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 (mitochondrial) ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,352,992...127,358,313
Ensembl chr10:127,352,992...127,358,313 		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 chr10:128,045,777...128,047,663
Ensembl chr10:128,045,777...128,047,676 		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 chr10:127,337,505...127,344,692
Ensembl chr10:127,337,555...127,344,692 		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 chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718 		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 chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		JBrowse link
G Tac2 tachykinin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:127,560,347...127,567,637
Ensembl chr10:127,560,347...127,567,637 		JBrowse link
G Timeless timeless circadian clock 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:128,067,932...128,088,810
Ensembl chr10:128,067,934...128,088,810 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709 		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 chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133 		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 chr10:127,575,399...127,583,218
Ensembl chr10:127,575,407...127,583,218 		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 alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) 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 chr11:100,960,918...100,968,483
Ensembl chr11:100,960,838...100,968,498 		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, spatacsin vesicle trafficking associated 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 chr 2:121,884,001...121,949,915
Ensembl chr 2:121,884,001...121,948,867 		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 Morc2a microrchidia 2A ISO
IAGP 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z
OMIM:616688 		OMIM
ClinVar
MouseDO		 PMID:7964809 PMID:9536098 PMID:12601114 PMID:16199547 PMID:17576681 More... NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		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-specific brefeldin A-resistance factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:32937143 NCBI chr19:46,140,948...46,274,949
Ensembl chr19:46,140,948...46,274,949 		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 AB124611 cDNA sequence AB124611 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,437,410...21,456,629
Ensembl chr 9:21,437,472...21,456,629 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,746,806...21,748,643
Ensembl chr 9:21,746,806...21,748,643 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,733,831...85,741,160
Ensembl chr 8:85,733,831...85,741,160 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		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 chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919 		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 chr 9:21,838,767...21,847,168
Ensembl chr 9:21,838,767...21,847,168 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,010,501...22,020,517
Ensembl chr 9:22,010,512...22,020,926 		JBrowse link
G Dand5 DAN domain family member 5, BMP antagonist ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,542,034...85,558,894
Ensembl chr 8:85,542,033...85,559,038 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,798,106...85,801,790
Ensembl chr 8:85,798,386...85,801,791 		JBrowse link
G Dnase2a deoxyribonuclease II alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		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 chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Ecsit ECSIT signalling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,982,731...21,997,648
Ensembl chr 9:21,983,542...21,996,734 		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 chr 9:21,926,301...21,963,442
Ensembl chr 9:21,926,301...21,963,319 		JBrowse link
G Elof1 ELF1 homolog, elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,024,282...22,028,491
Ensembl chr 9:22,024,285...22,028,468 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase, alpha subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,583,597...85,595,886
Ensembl chr 8:85,583,618...85,595,886 		JBrowse link
G Fbxw9 F-box and WD-40 domain protein 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,786,748...85,793,750
Ensembl chr 8:85,786,684...85,793,753 		JBrowse link
G Gadd45gip1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,558,911...85,562,111
Ensembl chr 8:85,558,151...85,562,111 		JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		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 chr 8:85,744,558...85,751,916
Ensembl chr 8:85,744,560...85,751,910 		JBrowse link
G Gm2026 predicted gene 2026 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 2:175,757,045...175,778,388
Ensembl chr 2:175,757,124...175,772,096 		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 chr 8:85,715,402...85,729,981
Ensembl chr 8:85,717,232...85,729,978 		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 chr 8:85,387,960...85,389,481
Ensembl chr 8:85,387,960...85,389,483 		JBrowse link
G Junb jun B proto-oncogene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		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 chr 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		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 chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
G Lyl1 lymphoblastomic leukemia 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		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 chr 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988 		JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860 		JBrowse link
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531 		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 chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973 		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 chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,696,251...85,701,440
Ensembl chr 8:85,696,216...85,701,463 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,914,314...21,925,521
Ensembl chr 9:21,914,102...21,925,518 		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 chr 9:21,818,787...21,829,623
Ensembl chr 9:21,818,787...21,829,488 		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 chr 8:85,561,540...85,567,361
Ensembl chr 8:85,560,648...85,567,294 		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 chr 9:21,882,475...21,900,765
Ensembl chr 9:21,880,007...21,900,742 		JBrowse link
G Rnaseh2a ribonuclease H2, large subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:25741868 NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		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 chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Spc24 SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,666,730...21,671,741
Ensembl chr 9:21,666,738...21,671,599 		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 chr 9:21,867,049...21,869,566
Ensembl chr 9:21,867,051...21,869,560 		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 chr 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850 		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 chr 9:21,504,018...21,507,266
Ensembl chr 9:21,504,018...21,507,266 		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 chr 9:21,418,676...21,421,530
Ensembl chr 9:21,418,849...21,421,548 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,832,305...21,838,831
Ensembl chr 9:21,832,304...21,838,852 		JBrowse link
G Tnpo2 transportin 2 (importin 3, karyopherin beta 2b) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,763,502...85,784,214
Ensembl chr 8:85,763,544...85,784,212 		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 chr 8:85,753,440...85,756,920
Ensembl chr 8:85,753,452...85,756,915 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,412,953...85,426,437
Ensembl chr 8:85,412,936...85,426,437 		JBrowse link
G Wdr83 WD repeat domain containing 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,801,664...85,807,375
Ensembl chr 8:85,801,664...85,807,935 		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 chr 8:85,807,592...85,808,968
Ensembl chr 8:85,807,369...85,808,968 		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 chr 9:21,499,978...21,504,131
Ensembl chr 9:21,499,978...21,504,124 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,966,705...21,982,707
Ensembl chr 9:21,966,707...21,982,672 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:72,635,912...72,646,409
Ensembl chr 8:72,635,863...72,649,571 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,833,797...85,849,724
Ensembl chr 8:85,835,182...85,849,724 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr17:33,031,125...33,049,235
Ensembl chr17:33,034,423...33,049,235 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr11:59,352,023...59,363,353
Ensembl chr11:59,352,023...59,363,300 		JBrowse link
G Zfp872 zinc finger protein 872 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,099,462...22,113,419
Ensembl chr 9:22,099,386...22,113,419 		JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr10:81,883,918...81,914,461
Ensembl chr10:81,883,957...81,900,579 		JBrowse link
G Zfp931 zinc finger protein 931 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 2:177,708,239...177,721,858
Ensembl chr 2:177,709,488...177,720,269 		JBrowse link
G Zfp958 zinc finger protein 958 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:4,663,170...4,682,572
Ensembl chr 8:4,663,167...4,680,231 		JBrowse link
G Zfp961 zinc finger protein 961 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:72,704,910...72,724,177
Ensembl chr 8:72,704,882...72,747,636 		JBrowse link
G Zfp997 zinc finger protein 997 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr13:66,258,188...66,271,523
Ensembl chr13:66,261,294...66,271,953 		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 1110065P20Rik RIKEN cDNA 1110065P20 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,743,284...124,744,479
Ensembl chr 4:124,742,873...124,744,989 		JBrowse link
G 2610528J11Rik RIKEN cDNA 2610528J11 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,384,207...118,387,422
Ensembl chr 4:118,384,196...118,387,425 		JBrowse link
G 5730409E04Rik RIKEN cDNA 5730409E04Rik gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,503,638...126,508,164
Ensembl chr 4:126,503,611...126,508,164 		JBrowse link
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 4:128,653,051...128,663,091
Ensembl chr 4:128,649,157...128,663,091 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,210,144...126,215,496
Ensembl chr 4:126,209,840...126,215,496 		JBrowse link
G Ago1 argonaute RISC catalytic subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,328,805...126,362,500
Ensembl chr 4:126,328,805...126,362,376 		JBrowse link
G Ago3 argonaute RISC catalytic subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,220,797...126,323,360
Ensembl chr 4:126,225,497...126,323,349 		JBrowse link
G Ago4 argonaute RISC catalytic subunit 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,383,280...126,427,379
Ensembl chr 4:126,383,334...126,427,265 		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 chr 4:124,830,777...124,838,454
Ensembl chr 4:124,830,841...124,838,449 		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 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322 		JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,628,988...123,644,092
Ensembl chr 4:123,628,352...123,644,138 		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 chr 4:116,493,707...116,508,871
Ensembl chr 4:116,493,707...116,508,877 		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 chr 4:117,070,523...117,109,329
Ensembl chr 4:117,070,531...117,109,322 		JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960 		JBrowse link
G Atp6v0b ATPase, H+ transporting, lysosomal V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,741,523...117,744,548
Ensembl chr 4:117,741,523...117,744,530 		JBrowse link
G AU022252 expressed sequence AU022252 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,077,039...119,089,884
Ensembl chr 4:119,060,767...119,089,909 		JBrowse link
G AU040320 expressed sequence AU040320 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,647,331...126,763,487
Ensembl chr 4:126,647,337...126,763,863 		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 4:128,824,026...128,856,250
Ensembl chr 4:128,824,026...128,856,235 		JBrowse link
G B4galt2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,730,211...117,740,724
Ensembl chr 4:117,726,457...117,740,684 		JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,206,438...123,237,045
Ensembl chr 4:123,206,438...123,237,045 		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 chr 4:116,976,409...116,983,531
Ensembl chr 4:116,976,416...116,982,922 		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 chr 4:122,752,841...122,779,869
Ensembl chr 4:122,752,840...122,779,849 		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 chr 4:116,453,927...116,457,463
Ensembl chr 4:116,453,851...116,457,463 		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 chr 4:117,725,946...117,729,808
Ensembl chr 4:117,723,721...117,729,754 		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 chr 4:119,179,665...119,272,718
Ensembl chr 4:119,179,663...119,272,718 		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 chr 4:118,290,098...118,294,540
Ensembl chr 4:118,290,098...118,294,549 		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 chr 4:124,812,258...124,830,710
Ensembl chr 4:124,812,258...124,833,104 		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 chr11:58,683,628...58,692,786
Ensembl chr11:58,683,623...58,692,786 		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 chr 4:118,411,747...118,477,982
Ensembl chr 4:118,411,748...118,477,974 		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 NCBI chr 4:120,523,760...120,525,017
Ensembl chr 4:120,523,769...120,525,017 		JBrowse link
G CK137956 cDNA sequence CK137956 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,821,385...127,882,072
Ensembl chr 4:127,821,385...127,864,744 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,450,738...126,488,326
Ensembl chr 4:126,450,728...126,487,696 		JBrowse link
G Col8a2 collagen, type VIII, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,180,613...126,208,123
Ensembl chr 4:126,180,586...126,208,123 		JBrowse link
G Col9a2 collagen, type IX, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,896,763...120,912,522
Ensembl chr 4:120,896,582...120,912,519 		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 chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233 		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 chr 4:127,880,310...128,461,459
Ensembl chr 4:127,881,650...128,461,449 		JBrowse link
G Ctps1 cytidine 5'-triphosphate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,397,065...120,427,473
Ensembl chr 4:120,397,065...120,427,473 		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 chr 4:127,062,090...127,130,815
Ensembl chr 4:127,062,997...127,130,815 		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 chr 4:117,531,878...117,539,450
Ensembl chr 4:117,531,878...117,539,470 		JBrowse link
G Dnali1 dynein, axonemal, light intermediate polypeptide 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,949,131...124,959,443
Ensembl chr 4:124,949,131...124,959,496 		JBrowse link
G Dph2 DPH2 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,745,838...117,749,220
Ensembl chr 4:117,745,840...117,749,229 		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 chr 4:116,981,734...116,985,935
Ensembl chr 4:116,983,991...116,985,935 		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 chr 4:118,477,996...118,484,973
Ensembl chr 4:118,477,996...118,484,973 		JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		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 chr 4:118,285,321...118,290,150
Ensembl chr 4:118,285,290...118,290,150 		JBrowse link
G Epha10 Eph receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,775,408...124,811,594
Ensembl chr 4:124,774,692...124,811,593 		JBrowse link
G Eri3 exoribonuclease 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,407,416...117,531,494
Ensembl chr 4:117,407,562...117,531,494 		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 chr 4:119,032,654...119,047,210
Ensembl chr 4:119,032,654...119,047,208 		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 chr 4:126,039,502...126,043,668
Ensembl chr 4:126,041,537...126,043,668 		JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,778,399...120,782,202
Ensembl chr 4:120,778,393...120,782,214 		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 chr 4:124,589,750...124,602,404
Ensembl chr 4:124,594,494...124,602,404 		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 4:129,030,672...129,038,386
Ensembl chr 4:129,030,477...129,038,386 		JBrowse link
G Foxj3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,396,858...119,486,316
Ensembl chr 4:119,394,201...119,486,316 		JBrowse link
G Foxo6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,124,275...120,144,458
Ensembl chr 4:120,124,276...120,144,546 		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 chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832 		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 chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		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 chr 4:127,234,892...127,247,929
Ensembl chr 4:127,244,879...127,247,874 		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 chr 4:127,248,600...127,251,957
Ensembl chr 4:127,248,602...127,251,974 		JBrowse link
G Gnl2 guanine nucleotide binding protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,920,866...124,949,175
Ensembl chr 4:124,910,378...124,949,173 		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 chr 4:116,414,357...116,451,099
Ensembl chr 4:116,414,855...116,451,079 		JBrowse link
G Grik3 glutamate receptor, ionotropic, kainate 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,384,025...125,607,966
Ensembl chr 4:125,384,493...125,607,966 		JBrowse link
G Guca2a guanylate cyclase activator 2a (guanylin) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,494,929...119,496,662
Ensembl chr 4:119,494,901...119,496,668 		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 chr 4:119,513,798...119,516,142
Ensembl chr 4:119,513,804...119,516,151 		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 chr 4:116,852,491...116,862,474
Ensembl chr 4:116,852,514...116,862,474 		JBrowse link
G Heyl hairy/enhancer-of-split related with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,127,349...123,143,663
Ensembl chr 4:123,127,349...123,143,668 		JBrowse link
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,590,982...119,992,608
Ensembl chr 4:119,590,981...119,995,242 		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 chr 4:128,154,005...128,154,688
Ensembl chr 4:128,154,005...128,154,750 		JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:129,005,363...129,019,712
Ensembl chr 4:129,005,363...129,015,829 		JBrowse link
G Hpcal4 hippocalcin-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,077,297...123,088,492
Ensembl chr 4:123,077,020...123,088,494 		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 chr 4:116,677,104...116,678,705
Ensembl chr 4:116,677,101...116,678,904 		JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Hyi hydroxypyruvate isomerase (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,217,196...118,219,941
Ensembl chr 4:118,217,187...118,219,941 		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 chr 4:124,635,620...124,695,304
Ensembl chr 4:124,635,643...124,695,304 		JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,751,689...117,772,419
Ensembl chr 4:117,751,683...117,772,196 		JBrowse link
G Ipp IAP promoted placental gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,364,710...116,400,607
Ensembl chr 4:116,364,746...116,395,440 		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 chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		JBrowse link
G Kdm4a lysine (K)-specific demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,994,154...118,037,216
Ensembl chr 4:117,994,154...118,037,240 		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 chr 4:117,016,830...117,039,821
Ensembl chr 4:117,016,836...117,039,836 		JBrowse link
G Klf17 Kruppel-like transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,613,856...117,622,863
Ensembl chr 4:117,615,033...117,622,845 		JBrowse link
G Lsm10 U7 snRNP-specific Sm-like protein LSM10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,990,350...125,992,375
Ensembl chr 4:125,990,416...125,992,377 		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 chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331 		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 chr 4:124,749,032...124,774,731
Ensembl chr 4:124,749,032...124,755,964 		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 chr 4:126,125,960...126,150,112
Ensembl chr 4:126,125,960...126,150,136 		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 chr 4:116,163,957...116,321,420
Ensembl chr 4:116,163,959...116,321,471 		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 chr 4:124,978,883...125,007,031
Ensembl chr 4:124,978,927...125,007,031 		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 chr 4:118,266,495...118,273,021
Ensembl chr 4:118,266,534...118,272,979 		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 chr 4:122,840,643...122,855,844
Ensembl chr 4:122,840,643...122,854,981 		JBrowse link
G Mir30c-1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,626,731...120,626,819
Ensembl chr 4:120,626,731...120,626,819 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		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 chr 4:125,940,721...125,949,329
Ensembl chr 4:125,940,718...125,949,325 		JBrowse link
G Mtf1 metal response element binding transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,696,342...124,743,593
Ensembl chr 4:124,695,897...124,743,593 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637 		JBrowse link
G Mycbp MYC binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,798,806...123,806,043
Ensembl chr 4:123,798,625...123,806,062 		JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:122,889,414...122,896,278
Ensembl chr 4:122,889,445...122,896,278 		JBrowse link
G Nasp nuclear autoantigenic sperm protein (histone-binding) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,458,249...116,488,894
Ensembl chr 4:116,458,249...116,485,138 		JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,637,548...126,647,203
Ensembl chr 4:126,637,543...126,647,231 		JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase core subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,606,503...123,611,979
Ensembl chr 4:123,606,503...123,611,995 		JBrowse link
G Nfyc nuclear transcription factor-Y gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,614,632...120,688,776
Ensembl chr 4:120,614,635...120,688,769 		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 chr 4:123,095,026...123,119,128
Ensembl chr 4:123,095,297...123,110,068 		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 chr 4:125,949,436...125,985,988
Ensembl chr 4:125,952,358...125,985,988 		JBrowse link
G Oxct2b 3-oxoacid CoA transferase 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,010,041...123,011,793
Ensembl chr 4:123,010,059...123,011,793 		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 chr 4:119,090,112...119,106,174
Ensembl chr 4:119,090,112...119,106,172 		JBrowse link
G Pabpc4 poly(A) binding protein, cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,172,722...123,192,718
Ensembl chr 4:123,156,144...123,192,718 		JBrowse link
G Phc2 polyhomeotic 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,548,448...128,646,674
Ensembl chr 4:128,548,495...128,646,674 		JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,078,593...116,160,253
Ensembl chr 4:116,078,815...116,160,253
Ensembl chr 4:116,078,815...116,160,253 		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 chr 4:116,985,852...116,991,244
Ensembl chr 4:116,985,852...116,991,160 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G Pou3f1 POU domain, class 3, transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,551,439...124,554,448
Ensembl chr 4:124,550,600...124,554,448 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,275,724...119,279,673
Ensembl chr 4:119,275,727...119,279,617 		JBrowse link
G Ppie peptidylprolyl isomerase E (cyclophilin E) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,020,907...123,033,783
Ensembl chr 4:123,020,908...123,033,744 		JBrowse link
G Ppih peptidyl prolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,157,207...119,177,720
Ensembl chr 4:119,157,207...119,177,743 		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 chr 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019 		JBrowse link
G Psmb2 proteasome (prosome, macropain) subunit, beta type 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,571,460...126,603,503
Ensembl chr 4:126,571,423...126,603,507 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		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 chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602 		JBrowse link
G Rhbdl2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,681,642...123,723,993
Ensembl chr 4:123,681,667...123,723,697 		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 chr 4:119,322,480...119,349,795
Ensembl chr 4:119,322,480...119,349,825 		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 chr 4:120,711,976...120,753,777
Ensembl chr 4:120,712,013...120,753,776 		JBrowse link
G Rlf rearranged L-myc fusion sequence ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:121,003,080...121,072,318
Ensembl chr 4:121,002,570...121,072,281 		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 4:128,951,871...128,978,319
Ensembl chr 4:128,952,064...128,979,679 		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 chr 4:117,128,660...117,354,249
Ensembl chr 4:117,128,660...117,354,249 		JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,011,033...117,013,329
Ensembl chr 4:117,011,024...117,013,440 		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 chr 4:123,811,226...123,830,790
Ensembl chr 4:123,811,239...123,830,790 		JBrowse link
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,880,197...124,902,895
Ensembl chr 4:124,880,223...124,902,892 		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 4:129,041,795...129,083,485
Ensembl chr 4:129,041,798...129,083,520 		JBrowse link
G Scmh1 Scm polycomb group homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,262,347...120,387,397
Ensembl chr 4:120,262,478...120,387,383 		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 chr 4:124,602,966...124,626,234
Ensembl chr 4:124,608,569...124,626,253 		JBrowse link
G Sfpq splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,914,504...126,944,894
Ensembl chr 4:126,915,117...126,930,806 		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 chr 4:126,044,395...126,057,503
Ensembl chr 4:126,044,395...126,057,284 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Slc6a9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,692,240...117,726,502
Ensembl chr 4:117,691,703...117,732,395 		JBrowse link
G Slfnl1 schlafen like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,389,446...120,393,858
Ensembl chr 4:120,389,428...120,393,858 		JBrowse link
G Smap2 small ArfGAP 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,825,514...120,874,497
Ensembl chr 4:120,825,514...120,874,444 		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 chr 4:127,137,577...127,141,602
Ensembl chr 4:127,137,577...127,141,602 		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 chr 4:124,960,465...124,967,836
Ensembl chr 4:124,960,465...124,967,835 		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 chr 4:117,789,349...117,992,169
Ensembl chr 4:117,789,351...117,992,111 		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 chr 4:125,997,738...126,034,822
Ensembl chr 4:125,997,750...126,034,822 		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 chr 4:119,052,507...119,058,495
Ensembl chr 4:119,052,503...119,058,495 		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 chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,215,914...126,219,481
Ensembl chr 4:126,215,914...126,219,481 		JBrowse link
G Tesk2 testis-specific kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,578,107...116,661,450
Ensembl chr 4:116,578,145...116,663,153 		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 chr 4:126,609,796...126,630,062
Ensembl chr 4:126,609,799...126,630,033 		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 chr 4:126,057,875...126,096,548
Ensembl chr 4:126,057,875...126,096,553 		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 chr 4:118,328,388...118,347,046
Ensembl chr 4:118,328,388...118,347,258 		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 chr 4:120,962,848...120,966,414
Ensembl chr 4:120,962,848...120,966,423 		JBrowse link
G Tmem125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,398,138...118,402,110
Ensembl chr 4:118,398,138...118,401,241 		JBrowse link
G Tmem35b transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,019,836...127,023,453
Ensembl chr 4:127,017,484...127,023,437 		JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,109,148...117,125,785
Ensembl chr 4:117,109,148...117,125,779 		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 4:128,999,321...129,005,419
Ensembl chr 4:128,999,341...129,005,419 		JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,408,725...116,414,262
Ensembl chr 4:116,409,102...116,413,132 		JBrowse link
G Toe1 target of EGR1, member 1 (nuclear) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,661,199...116,664,785
Ensembl chr 4:116,651,507...116,664,837 		JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,156,198...126,169,676
Ensembl chr 4:126,156,118...126,169,676 		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 4:128,777,837...128,805,119
Ensembl chr 4:128,777,373...128,805,121 		JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:122,910,342...122,948,742
Ensembl chr 4:122,910,390...122,948,742 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610 		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 chr 4:124,571,173...124,587,395
Ensembl chr 4:124,571,953...124,587,393 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO
IAGP 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C
CTD Direct Evidence: marker/mechanism
OMIM:608323 		OMIM
ClinVar
CTD
MouseDO		 PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 4:129,083,595...129,113,033
Ensembl chr 4:129,083,553...129,113,400 		JBrowse link
G Ybx1 Y box protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,134,524...119,153,462
Ensembl chr 4:119,135,178...119,151,801 		JBrowse link
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035 		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 chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633 		JBrowse link
G Zfp362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,666,881...128,700,118
Ensembl chr 4:128,666,881...128,699,838 		JBrowse link
G Zfp69 zinc finger protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,786,201...120,808,898
Ensembl chr 4:120,787,334...120,808,896 		JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,026,710...119,031,429
Ensembl chr 4:119,026,710...119,031,392 		JBrowse link
G Zfp809 zinc finger protein 809 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 9:22,136,980...22,165,413
Ensembl chr 9:22,137,010...22,154,650 		JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
G Zmym1 zinc finger, MYM domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,940,887...126,954,968
Ensembl chr 4:126,940,887...126,954,945 		JBrowse link
G Zmym4 zinc finger, MYM-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,755,612...126,862,021
Ensembl chr 4:126,755,732...126,861,928 		JBrowse link
G Zmym6 zinc finger, MYM-type 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,971,176...127,018,167
Ensembl chr 4:126,971,176...127,018,165 		JBrowse link
G Zmynd12 zinc finger, MYND domain containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,279,881...119,311,096
Ensembl chr 4:119,280,011...119,324,641 		JBrowse link
G Zscan20 zinc finger and SCAN domains 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,472,142...128,503,933
Ensembl chr 4:128,477,332...128,503,891 		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 chr 4:116,731,326...116,846,461
Ensembl chr 4:116,734,573...116,846,461 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7505151 PMID:7527371 PMID:7581451 PMID:8816708 PMID:8990016 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		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, FH2 and WH2 domain containing 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 chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991 		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 guanine nucleotide binding protein (G protein), 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 chr 3:32,632,736...32,670,813
Ensembl chr 3:32,634,481...32,670,734 		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 polypeptide 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 chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 IAGP MouseDO NCBI chr 3:108,444,900...108,452,013
Ensembl chr 3:108,441,466...108,452,039 		JBrowse link
G Clcn1 chloride channel, voltage-sensitive 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 chr 6:42,263,552...42,292,693
Ensembl chr 6:42,263,619...42,292,690 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		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 chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		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 chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 4:129,083,595...129,113,033
Ensembl chr 4:129,083,553...129,113,400 		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-Coenzyme A oxidase 1, palmitoyl ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A ClinVar PMID:25326637 PMID:28492532 NCBI chr11:116,062,714...116,089,605
Ensembl chr11:116,062,714...116,089,871 		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 chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11743580 PMID:12499475 PMID:12566285 PMID:14561495 PMID:15944907 More... NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		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 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		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 domain containing, family G (with RhoGef domain) member 5 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 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857 		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 Cox6a1 cytochrome c oxidase subunit 6A1 ISO
IAGP 		ClinVar Annotator: match by term: COX6A1-related condition | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D
OMIM:616039 		OMIM
ClinVar
MouseDO		 PMID:25152455 PMID:25741868 PMID:26302975 PMID:28492532 NCBI chr 5:115,483,711...115,487,017
Ensembl chr 5:115,483,701...115,487,040 		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 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		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 chr11:62,842,019...62,883,921
Ensembl chr11:62,842,019...62,883,921 		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 chr 1:170,941,326...170,954,525
Ensembl chr 1:170,941,487...170,954,536 		JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,701,756...170,713,109
Ensembl chr 1:170,701,067...170,713,109 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		JBrowse link
G Fcgr2b Fc receptor, IgG, low affinity IIb ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Fcrla Fc receptor-like A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,745,163...170,755,169
Ensembl chr 1:170,745,145...170,755,152 		JBrowse link
G Fcrlb Fc receptor-like B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr 1:170,734,284...170,741,396
Ensembl chr 1:170,734,842...170,740,510 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		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 chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		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 chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Hs3st3b1 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 chr11:63,775,519...63,813,110
Ensembl chr11:63,776,618...63,813,116 		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 chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		JBrowse link
G Litaf LPS-induced TN factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr16:10,777,137...10,810,985
Ensembl chr16:10,777,139...10,884,021 		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 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 chr10:67,102,463...67,121,076
Ensembl chr10:67,102,468...67,121,084 		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 chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		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 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein 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 chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 PMID:32122354 NCBI chr11:117,090,487...117,253,151
Ensembl chr11:117,090,487...117,253,151 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 chr11:62,952,485...62,985,786
Ensembl chr11:62,952,480...62,985,790 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr11:62,842,019...62,883,921
Ensembl chr11:62,842,019...62,883,921 		JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:63,853,453...63,970,298
Ensembl chr11:63,853,453...63,970,294 		JBrowse link
G Hs3st3b1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:63,775,519...63,813,110
Ensembl chr11:63,776,618...63,813,116 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: HMSN 1A ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 More... NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G Nrg1 neuregulin 1 IMP RGD PMID:30931926 RGD:405650604 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IAGP 		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:118220 		OMIM
ClinVar
MouseDO		 PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 More... NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:62,952,485...62,985,786
Ensembl chr11:62,952,480...62,985,790 		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
IAGP 		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:118200 		OMIM
ClinVar
MouseDO		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:26378787 NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		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 chr16:10,010,513...10,068,595
Ensembl chr16:10,010,576...10,069,342 		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 chr16:8,476,444...8,490,017
Ensembl chr16:8,476,444...8,490,019 		JBrowse link
G Ciita class II transactivator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		JBrowse link
G Dexi dexamethasone-induced transcript ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,348,071...10,360,918
Ensembl chr16:10,320,395...10,360,918 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,099,613...10,131,832
Ensembl chr16:10,099,613...10,131,832 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		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 chr16:8,647,964...8,676,788
Ensembl chr16:8,647,964...8,676,786 		JBrowse link
G Litaf LPS-induced TN factor ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:601098 		OMIM
ClinVar
CTD
MouseDO		 PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chr16:10,777,137...10,810,985
Ensembl chr16:10,777,139...10,884,021 		JBrowse link
G Nefl neurofilament, light polypeptide 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 chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Nubp1 nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,229,802...10,242,317
Ensembl chr16:10,229,812...10,242,292 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,614,196...10,614,687
Ensembl chr16:10,614,190...10,623,703 		JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,609,241...10,609,969
Ensembl chr16:10,609,244...10,613,998 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,608,372...10,608,778
Ensembl chr16:10,608,369...10,608,778 		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 chr16:10,652,923...10,661,099
Ensembl chr16:10,652,923...10,710,830 		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 chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,175,816...10,213,319
Ensembl chr16:10,175,812...10,213,354 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:8,451,595...8,455,575
Ensembl chr16:8,451,093...8,455,576 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,605,799...10,606,519
Ensembl chr16:10,605,800...10,606,524 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:10,237,397...10,265,251
Ensembl chr16:10,238,421...10,265,226 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr16:8,506,586...8,574,931
Ensembl chr16:8,507,459...8,610,172 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		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:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Pmp22 peripheral myelin protein 22 IAGP
ISO 		OMIM:118300
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD
OMIM		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		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 polypeptide 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 Pmp2 peripheral myelin protein 2 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 chr 3:10,244,911...10,248,945
Ensembl chr 3:10,244,911...10,248,989 		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 chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		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 polymerase (RNA) III (DNA directed) polypeptide 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 chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		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-triphosphate receptor 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 chr17:27,275,976...27,341,197
Ensembl chr17:27,276,278...27,341,197 		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 2510039O18Rik RIKEN cDNA 2510039O18 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,023,849...148,031,773
Ensembl chr 4:148,025,352...148,031,771 		JBrowse link
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:6492094 PMID:7842019 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296 		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 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		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 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Agtrap angiotensin II, type I receptor-associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,161,518...148,172,521
Ensembl chr 4:148,161,518...148,172,488 		JBrowse link
G Angptl7 angiopoietin-like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,579,737...148,584,919
Ensembl chr 4:148,579,640...148,584,917 		JBrowse link
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998 		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 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		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 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		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 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		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 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		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 4:148,888,823...149,039,350
Ensembl chr 4:148,888,886...149,039,346 		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 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,212,806...149,222,057
Ensembl chr 4:149,211,578...149,222,086 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,760,753 		JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690 		JBrowse link
G Clcn6 chloride channel, voltage-sensitive 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,088,716...148,123,270
Ensembl chr 4:148,088,716...148,123,278 		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 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,670,536...149,733,356
Ensembl chr 4:149,670,925...149,733,356 		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 8:111,573,232...111,608,866
Ensembl chr 8:111,573,232...111,608,859 		JBrowse link
G Col12a1 collagen, type XII, alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,209,491...149,211,132
Ensembl chr 4:149,209,491...149,211,220 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		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 chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Ctnnbip1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,602,698...149,650,894
Ensembl chr 4:149,602,693...149,650,894 		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 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488 		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 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560 		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 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856 		JBrowse link
G Dctn1 dynactin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:83,142,702...83,177,103
Ensembl chr 6:83,142,902...83,177,099 		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 8:111,701,623...111,724,456
Ensembl chr 8:111,701,628...111,724,432 		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 8:111,729,818...111,758,383
Ensembl chr 8:111,729,820...111,758,383 		JBrowse link
G Dffa DNA fragmentation factor, alpha subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,188,599...149,205,110
Ensembl chr 4:149,188,603...149,205,104 		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 4:148,320,890...148,372,653
Ensembl chr 4:148,324,721...148,372,422 		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 chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386 		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 4:148,182,894...148,215,582
Ensembl chr 4:148,182,894...148,215,155 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449 		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 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272 		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 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		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:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		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 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,642,870...148,666,854
Ensembl chr 4:148,642,886...148,666,858 		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 4:148,244,605...148,250,874
Ensembl chr 4:148,245,078...148,250,881 		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 4:148,237,256...148,244,663
Ensembl chr 4:148,237,257...148,244,939 		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 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:111,609,088...111,629,120
Ensembl chr 8:111,609,088...111,629,120 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		JBrowse link
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293 		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 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177 		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: 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 chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		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 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935 		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 chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		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 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gm13201 predicted gene 13201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,140,315...148,160,194
Ensembl chr 4:148,126,406...148,159,946 		JBrowse link
G Gm22193 predicted gene, 22193 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:111,569,015...111,569,090
Ensembl chr 8:111,569,015...111,569,090 		JBrowse link
G Gm25820 predicted gene, 25820 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 3:88,601,237...88,601,364
Ensembl chr 3:88,601,237...88,601,364
Ensembl chr 3:88,601,237...88,601,364 		JBrowse link
G Gm3764 predicted gene 3764 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,033...88,137,271 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		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 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300 		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 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480 		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 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		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 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439 		JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Hspb3 heat shock protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chr13:113,799,432...113,800,212
Ensembl chr13:113,799,432...113,800,212 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:111,467,809...111,532,579
Ensembl chr 8:111,468,461...111,532,556 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028 		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 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		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 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355 		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 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993 		JBrowse link
G Kcnn3 potassium intermediate/small conductance 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 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		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 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231 		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 chr 1:92,943,180...93,029,760
Ensembl chr 1:92,943,186...93,029,673 		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 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		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 chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		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 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213 		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 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381 		JBrowse link
G Lbhd1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:8,861,242...8,868,123
Ensembl chr19:8,861,096...8,869,991 		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 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100 		JBrowse link
G Lmna lamin A 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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:8,828,132...8,831,273
Ensembl chr19:8,828,132...8,831,273 		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 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		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 4:149,569,642...149,581,952
Ensembl chr 4:149,569,686...149,581,125 		JBrowse link
G Mad2l2 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156 		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 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956 		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 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		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 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		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 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024 		JBrowse link
G Mex3a mex3 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 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703 		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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 4:147,945,235...147,953,176
Ensembl chr 4:147,945,235...147,953,273 		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 chr 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207 		JBrowse link
G Mir9-1 microRNA 9-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993 		JBrowse link
G Mme membrane metallo endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 PMID:33144514 NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		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 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979 		JBrowse link
G Msto1 misato 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		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 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		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 8:111,447,718...111,468,032
Ensembl chr 8:111,448,108...111,468,032 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog (Xenopus) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836 		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 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395 		JBrowse link
G Muc1 mucin 1, transmembrane ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		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 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802 		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 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		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 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		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 chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597 		JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nppb natriuretic peptide type B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member VI ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848 		JBrowse link
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259 		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 4:149,044,992...149,184,300
Ensembl chr 4:149,044,992...149,184,333 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,234,448...149,251,162
Ensembl chr 4:149,234,448...149,251,228 		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 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824 		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 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638 		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 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320 		JBrowse link
G Prcc papillary renal cell carcinoma (translocation-associated) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915 		JBrowse link
G Pygo2 pygopus 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435 		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 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607 		JBrowse link
G Rab7 RAB7, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252 		JBrowse link
G Rbp7 retinol binding protein 7, cellular ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,534,144...149,550,919
Ensembl chr 4:149,534,144...149,539,435 		JBrowse link
G Rhbg Rhesus blood group-associated 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 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016 		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 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		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 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618 		JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449 		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 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (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 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		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 8:111,537,123...111,573,578
Ensembl chr 8:111,536,871...111,573,419 		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 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029 		JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		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 4:149,828,493...149,858,746
Ensembl chr 4:149,828,493...149,858,734 		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 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446 		JBrowse link
G Slc50a1 solute carrier family 50 (sugar transporter), member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877 		JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062 		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 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645 		JBrowse link
G Snord111 small nucleolar RNA, C/D box 111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:111,565,167...111,565,230
Ensembl chr 8:111,565,160...111,565,248 		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 4:149,980,740...150,039,494
Ensembl chr 4:149,980,740...150,039,500 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:148,675,970...148,679,076
Ensembl chr 4:148,675,960...148,679,450 		JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		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 8:111,646,520...111,699,132
Ensembl chr 8:111,646,554...111,699,112 		JBrowse link
G Syt11 synaptotagmin XI ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471 		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 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476 		JBrowse link
G Tfg Trk-fused gene 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 chr16:56,510,692...56,541,801
Ensembl chr16:56,510,695...56,537,813 		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 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,799,832...149,822,501
Ensembl chr 4:149,799,832...149,822,501 		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 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209 		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 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306 		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 3:87,976,717...87,985,611
Ensembl chr 3:87,977,334...87,982,824
Ensembl chr 3:87,977,334...87,982,824 		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 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:149,412,873...149,512,618
Ensembl chr 4:149,412,873...149,511,206 		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 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228 		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 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227 		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 chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287 		JBrowse link
G Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		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 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083 		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 chr 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485 		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 chr 7:98,802,870...98,831,920
Ensembl chr 7:98,802,865...98,831,926 		JBrowse link
G Kif1b kinesin family member 1B susceptibility ISO
IAGP 		DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
CTD Direct Evidence: marker/mechanism
OMIM:118210 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9409358 PMID:9536098 PMID:11389829 PMID:16199547 PMID:17576681 More... RGD:12738406 NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		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, alpha 1 polypeptide 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 chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000 		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 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603 		JBrowse link
G Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... RGD:12738379 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603 		JBrowse link
G Mfn2 mitofusin 2 ISO
IAGP 		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:609260 		OMIM
ClinVar
MouseDO		 PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:15064763 More... NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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-Coenzyme A dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 3:36,120,128...36,147,006
Ensembl chr 3:36,120,128...36,147,002 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 6:87,652,572...87,709,717
Ensembl chr 6:87,652,572...87,699,783 		JBrowse link
G Rab7 RAB7, member RAS oncogene family ISO
IAGP 		OMIM:600882
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)
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252 		JBrowse link
G Scn10a sodium channel, voltage-gated, type X, alpha ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:119,437,522...119,548,388
Ensembl chr 9:119,437,522...119,548,388 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar NCBI chr11:117,090,487...117,253,151
Ensembl chr11:117,090,487...117,253,151 		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 ISO
IAGP 		DNA:missense mutation:cds:p.R298C (human)
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
CTD Direct Evidence: marker/mechanism
OMIM:605588 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:1358482 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		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 CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 PMID:32324310 More... NCBI chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		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
IAGP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
CTD Direct Evidence: marker/mechanism
OMIM:601472 		OMIM
ClinVar
CTD
MouseDO		 PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		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, alpha 1 polypeptide 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 chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000 		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 chr14:67,910,629...67,953,290
Ensembl chr14:67,913,780...67,953,290 		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 chr14:67,989,377...68,171,021
Ensembl chr14:67,989,584...68,170,891 		JBrowse link
G Ebf2 early B cell factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:67,470,741...67,668,401
Ensembl chr14:67,470,741...67,668,367 		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 chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		JBrowse link
G Kctd9 potassium channel tetramerisation domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:67,953,536...67,979,760
Ensembl chr14:67,953,386...67,979,759 		JBrowse link
G Nefl neurofilament, light polypeptide ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:607684 		OMIM
ClinVar
CTD
MouseDO		 PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		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 MpV17 mitochondrial inner membrane protein 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 chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		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 chr 5:31,273,956...31,294,970
Ensembl chr 5:31,274,056...31,294,974 		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 chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3467805 PMID:7505151 PMID:7506095 PMID:8816708 PMID:8990016 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		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 chr 3:84,067,746...84,215,659
Ensembl chr 3:84,067,746...84,214,184 		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 chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 chr11:62,842,019...62,883,921
Ensembl chr11:62,842,019...62,883,921 		JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr11:63,853,453...63,970,298
Ensembl chr11:63,853,453...63,970,294 		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 chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		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:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Hs3st3b1 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 chr11:63,775,519...63,813,110
Ensembl chr11:63,776,618...63,813,116 		JBrowse link
G Mpz myelin protein zero ISO
IAGP 		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:145900 		OMIM
ClinVar
MouseDO		 PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IAGP 		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:145900 		OMIM
ClinVar
MouseDO		 PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 More... NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		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 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		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 chr11:62,952,485...62,985,786
Ensembl chr11:62,952,480...62,985,790 		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 chr10:42,188,577...42,354,561
Ensembl chr10:42,188,581...42,354,561 		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 chr10:41,179,433...41,309,565
Ensembl chr10:41,179,976...41,310,530 		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 chr10:41,784,284...41,894,383
Ensembl chr10:41,790,986...41,894,438 		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 chr10:43,355,130...43,391,413
Ensembl chr10:43,354,827...43,391,392 		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 chr15:66,763,337...66,795,050
Ensembl chr15:66,763,169...66,795,050 		JBrowse link
G Cd164 CD164 antigen ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:41,395,496...41,407,038
Ensembl chr10:41,395,410...41,407,044 		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 chr10:41,594,836...41,686,413
Ensembl chr10:41,594,836...41,685,867 		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 chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		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:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413 		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 chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		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 chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		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 chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		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 chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		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 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 chr10:41,351,693...41,363,026
Ensembl chr10:41,352,310...41,363,028 		JBrowse link
G Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		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 chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777 		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 chr10:43,401,115...43,417,037
Ensembl chr10:43,401,129...43,416,990 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 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 chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		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 chr10:42,437,959...42,459,721
Ensembl chr10:42,437,959...42,459,628 		JBrowse link
G Ostm1 osteopetrosis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:42,554,912...42,578,458
Ensembl chr10:42,459,818...42,578,455 		JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878 		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 chr15:66,449,354...66,519,821
Ensembl chr15:66,449,409...66,519,825 		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 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		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 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Ppil6 peptidylprolyl isomerase (cyclophilin)-like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:41,366,414...41,390,286
Ensembl chr10:41,366,435...41,390,282 		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 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Qrsl1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:43,750,184...43,777,742
Ensembl chr10:43,750,184...43,777,741 		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 chr10:43,777,772...43,823,860
Ensembl chr10:43,777,803...43,833,197 		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 chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		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 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 chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129 		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 chr10:42,736,314...42,836,778
Ensembl chr10:42,736,366...42,836,776 		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 chr10:42,637,492...42,708,510
Ensembl chr10:42,637,492...42,708,510 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr11:117,090,487...117,253,151
Ensembl chr11:117,090,487...117,253,151 		JBrowse link
G Sesn1 sestrin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:41,686,570...41,784,432
Ensembl chr10:41,685,931...41,784,420 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 chr15:66,652,713...66,703,921
Ensembl chr15:66,652,668...66,703,678 		JBrowse link
G Smpd2 sphingomyelin phosphodiesterase 2, neutral ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:41,363,168...41,366,410
Ensembl chr10:41,361,638...41,366,365 		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 chr10:42,378,050...42,411,365
Ensembl chr10:42,378,026...42,411,377 		JBrowse link
G Sobp sine oculis binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr10:42,878,484...43,059,144
Ensembl chr10:42,878,496...43,050,526 		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 chr15:66,542,606...66,722,570
Ensembl chr15:66,542,602...66,722,570 		JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr15:66,398,061...66,433,085
Ensembl chr15:66,398,061...66,432,952 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr 6:119,900,930...120,015,659
Ensembl chr 6:119,900,930...120,015,633 		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 chr10:41,326,354...41,341,578
Ensembl chr10:41,326,379...41,341,570 		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 chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:12738393, RGD:12738391 NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 1:17,012,328...17,168,132
Ensembl chr 1:17,034,784...17,168,113 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 1:16,758,680...16,779,829
Ensembl chr 1:16,758,275...16,779,835 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 1:16,735,415...16,748,501
Ensembl chr 1:16,735,431...16,748,499 		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
IAGP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
CTD Direct Evidence: marker/mechanism
OMIM:601382 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More... NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777 		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
IAGP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
CTD Direct Evidence: marker/mechanism
OMIM:604563 		OMIM
ClinVar
CTD
MouseDO		 PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129 		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 chr15:89,095,654...89,171,218
Ensembl chr15:89,095,756...89,171,213 		JBrowse link
G Sbf1 SET binding factor 1 ISO
IAGP 		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:615284 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		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
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:601596 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		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 gene 1 IAGP
ISO 		OMIM:601455
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD
OMIM		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		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-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E ClinVar PMID:25741868 NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550 		JBrowse link
G Egr2 early growth response 2 ISO
IAGP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
CTD Direct Evidence: marker/mechanism
OMIM:605253 		OMIM
ClinVar
CTD
MouseDO		 PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More... NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		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 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		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 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More... NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		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
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:609311 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chr16:16,234,774...16,418,400
Ensembl chr16:16,234,781...16,418,413 		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
IAGP 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
CTD Direct Evidence: marker/mechanism
OMIM:611228 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		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 surfeit gene 1 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 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542 		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 chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		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 DNA:missense mutations, nonsense mutation:cds:multiple
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8406488 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16437557 More... RGD:1601409 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 chr 5:124,466,152...124,479,915
Ensembl chr 5:124,466,152...124,479,907 		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 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 IAGP OMIM:601152 | OMIM:616505 MouseDO NCBI chr18:31,713,217...31,743,585
Ensembl chr18:31,689,164...31,742,964 		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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 chr18:31,713,217...31,743,585
Ensembl chr18:31,689,164...31,742,964 		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, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		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:47,114,023...47,123,730
Ensembl chr  X:47,114,023...47,123,730 		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:139,854,594...139,947,190
Ensembl chr  X:139,857,656...139,947,266 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:47,430,235...47,496,945
Ensembl chr  X:47,430,235...47,496,926 		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:138,701,552...138,712,135
Ensembl chr  X:138,701,577...138,712,135 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:139,948,399...140,257,091
Ensembl chr  X:139,948,399...140,257,072 		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:138,963,628...139,007,546
Ensembl chr  X:138,963,628...139,007,546 		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:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		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:47,499,926...47,552,009
Ensembl chr  X:47,499,923...47,552,009 		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:139,177,867...139,336,216
Ensembl chr  X:139,243,012...139,336,216 		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:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gucy2f guanylate cyclase 2f ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:140,862,282...140,980,399
Ensembl chr  X:140,864,156...140,979,927 		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:140,493,994...140,508,213
Ensembl chr  X:140,493,994...140,508,259 		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:141,087,749...141,089,194
Ensembl chr  X:141,087,748...141,089,290 		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:139,565,326...139,668,464
Ensembl chr  X:139,565,348...139,668,464 		JBrowse link
G Morc4 microrchidia 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:138,722,384...138,772,440
Ensembl chr  X:138,722,381...138,772,426 		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:138,907,551...138,963,456
Ensembl chr  X:138,907,554...138,963,461 		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:141,009,766...141,022,696
Ensembl chr  X:141,009,766...141,022,688 		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:47,001,289...47,055,305
Ensembl chr  X:47,001,264...47,054,745 		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:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
G Psmd10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:139,849,174...139,857,460
Ensembl chr  X:139,849,178...139,857,477 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		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:138,790,260...138,899,344
Ensembl chr  X:138,790,260...138,899,344 		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:138,680,430...138,683,102
Ensembl chr  X:138,680,298...138,683,102 		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:47,235,313...47,250,442
Ensembl chr  X:47,235,313...47,250,442 		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:138,585,730...138,654,970
Ensembl chr  X:138,585,745...138,654,154 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:139,709,056...139,714,182
Ensembl chr  X:139,709,056...139,714,182 		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:139,440,277...139,501,257
Ensembl chr  X:139,440,277...139,501,408 		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:47,345,811...47,371,326
Ensembl chr  X:47,345,739...47,371,330 		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:139,808,357...139,840,221
Ensembl chr  X:139,808,357...139,840,221 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:47,195,790...47,225,859
Ensembl chr  X:47,197,602...47,225,858 		JBrowse link
G Zdhhc9 zinc finger, DHHC domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:47,260,844...47,297,792
Ensembl chr  X:47,260,846...47,297,755 		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 chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:302800 		OMIM
ClinVar
CTD
MouseDO		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Sacs sacsin 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 chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: HMSN, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		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, isoenzyme 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:92,798,923...92,875,756
Ensembl chr  X:92,808,213...92,875,807 		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, mitochondrion-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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		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 chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		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 chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		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 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA 		ClinVar
RGD		 PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 More... RGD:1601408 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		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 chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969 		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 chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      musculoskeletal system disease 8132
        neuromuscular disease 3259
          Charcot-Marie-Tooth disease 727
            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 + 261
            Charcot-Marie-Tooth disease type 1 + 61
            Charcot-Marie-Tooth disease type 2 + 322
            Charcot-Marie-Tooth disease type 3 9
            Charcot-Marie-Tooth disease type 4 + 62
            Charcot-Marie-Tooth disease type 5 1
            Charcot-Marie-Tooth disease type 6 + 4
            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 16273
    disease of anatomical entity 15865
      nervous system disease 13800
        central nervous system disease 12326
          neurodegenerative disease 4998
            Nervous System Heredodegenerative Disorders 3411
              motor peripheral neuropathy 1308
                Charcot-Marie-Tooth disease 727
                  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 + 261
                  Charcot-Marie-Tooth disease type 1 + 61
                  Charcot-Marie-Tooth disease type 2 + 322
                  Charcot-Marie-Tooth disease type 3 9
                  Charcot-Marie-Tooth disease type 4 + 62
                  Charcot-Marie-Tooth disease type 5 1
                  Charcot-Marie-Tooth disease type 6 + 4
                  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
paths to the root