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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 chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434 		JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10319589 PMID:24627108 PMID:25025039 PMID:25164601 PMID:25741868 More... NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 More... NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		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 chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		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 chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:24604904 PMID:24627108 PMID:25025039 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069 		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 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		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 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		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 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		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 chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		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 chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		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 chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 severity IEP
ISO 		RGD PMID:22189569 PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		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 6:31,873,404...31,907,557
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		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 chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990 		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 chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 PMID:28492532 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2526018 PMID:2733290 PMID:8621584 PMID:9500556 PMID:9536098 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25488817 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 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 chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		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 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10094189 PMID:15933803 PMID:23430803 PMID:25741868 PMID:28492532 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Nefl neurofilament light chain 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 chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:77656 PMID:3472625 PMID:10330344 PMID:10982191 PMID:11139246 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G107V (human) 		ClinVar
CTD
OMIM
RGD		 PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... RGD:1358786, RGD:2312445, RGD:1358560 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia 		ClinVar PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		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:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 More... NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		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 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 PMID:31737055 More... NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		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 chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		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 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 2:85,020,724...85,451,938
Ensembl chr 2:83,309,843...83,741,084 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 PMID:28492532 NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		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 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		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 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		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 chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		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 chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:17081983 PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 More... NCBI chr 6:112,679,623...112,762,470
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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 chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		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 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		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 chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		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 chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO
ISS 		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 chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain susceptibility ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM		 PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		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 chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749 		JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		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 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2JJ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ OMIM
ClinVar		 PMID:28754666 PMID:31853710 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		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 5:7,444,769...7,461,187
Ensembl chr 5:2,661,724...2,677,890
Ensembl chr20:2,661,724...2,677,890 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
OMIM:607831
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:12738397, RGD:12738396 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		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 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		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 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		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 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:7,474,039...7,531,526
Ensembl chr 5:2,690,763...2,814,965 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar		 PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		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 chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		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 chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,830,668...131,876,311
Ensembl chr 6:131,831,454...131,854,463 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Atp5mj ATP synthase membrane subunit j ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,018,737...131,024,488
Ensembl chr 1:168,472,329...168,472,610
Ensembl chr 1:168,472,329...168,472,610 		JBrowse link
G Atp5mj-ps1 ATP synthase membrane subunit j, pseudogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 1:168,472,019...168,472,630
Ensembl chr 1:168,472,329...168,472,610 		JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587 		JBrowse link
G C6h14orf180 similar to human chromosome 14 open reading frame 180 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658 		JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO
ISS 		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 chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656 		JBrowse link
G Exoc3l4 exocyst complex component 3-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Kif26a kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Pld4 phospholipase D family, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376 		JBrowse link
G Ppp1r13b protein phosphatase 1, regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,890,682...130,963,845
Ensembl chr 6:130,890,679...130,963,330 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:25817843 PMID:28492532 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153 		JBrowse link
G Rd3l RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,042,274...131,044,178
Ensembl chr 6:131,042,185...131,044,163 		JBrowse link
G Siva1 SIVA1, apoptosis-inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690 		JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Tmem179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,569,289...131,580,413
Ensembl chr 6:131,569,290...131,580,305 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,751,952...129,821,464
Ensembl chr 6:129,752,014...129,847,339 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		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 chr 6:129,865,859...129,885,816
Ensembl chr 6:129,864,915...129,886,389 		JBrowse link
G Zfyve21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411 		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
ISS 		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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		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
ISS 		OMIM:615025
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q 		OMIM
MouseDO
ClinVar		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		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
ISS 		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 chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		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 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		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 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		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 chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295 		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 chr 7:700,688...702,130
Ensembl chr 7:700,762...701,946 		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 chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		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 chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719 		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 chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		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 chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		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 chr 7:523,204...560,911
Ensembl chr 7:523,265...560,659 		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 chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403 		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 chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		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 chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:64,898,693...64,904,636
Ensembl chr 7:63,013,371...63,018,522 		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 chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gls2 glutaminase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		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 chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210 		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 chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172 		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 chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		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 chr 7:64,764,346...64,767,824
Ensembl chr 7:62,879,018...62,882,495 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		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 chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274 		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 chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202 		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 chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400 		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 chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944 		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 chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989 		JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992 		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 chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010 		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 chr 7:63,514,025...63,538,791
Ensembl chr 7:63,479,951...63,534,602 		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 chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579 		JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745 		JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526 		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 chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084 		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 chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540 		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 chr 7:560,787...603,881
Ensembl chr 7:560,648...600,232 		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 chr 7:63,616,711...63,625,053
Ensembl chr 7:63,597,536...63,624,124 		JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		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 chr 7:633,400...637,564
Ensembl chr 7:633,394...637,557 		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 chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589 		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 chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967 		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 chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170 		JBrowse link
G Timeless timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738 		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 chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		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 chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		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 chr 7:63,576,998...63,584,549
Ensembl chr 7:63,576,917...63,589,210 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO
ISS 		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 chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO 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 chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		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 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		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 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		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 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		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 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		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 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390 		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 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641 		JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		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 chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		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 chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181 		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 chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035 		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 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		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 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		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 chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		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 chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		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 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		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 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185 		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 chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695 		JBrowse link
G Ralgdsl3 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 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:25741868 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		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 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211 		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 chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		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 8:20,145,264...20,148,233 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 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		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 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		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 chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		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 chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		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 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		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 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864 		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 chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700 		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 chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504 		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 chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798 		JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932 		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 chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395 		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 chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803 		JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403 		JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756 		JBrowse link
G Znf69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896 		JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3galt2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,101,329...141,113,760
Ensembl chr 5:141,107,983...141,115,641 		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 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296 		JBrowse link
G Ago1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,722,111...138,757,118
Ensembl chr 5:138,722,111...138,773,546 		JBrowse link
G Ago3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,632,367...138,714,230
Ensembl chr 5:138,639,569...138,714,230 		JBrowse link
G Ago4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,780,446...138,825,898
Ensembl chr 5:138,783,069...138,825,632 		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 5:137,198,688...137,205,912
Ensembl chr 5:137,198,720...137,204,026 		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 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632 		JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,989,378...136,004,782
Ensembl chr 5:135,989,465...136,004,762 		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 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674 		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 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062 		JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025 		JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401 		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 5:141,281,310...141,310,415
Ensembl chr 5:141,281,249...141,310,397 		JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013 		JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099 		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 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785 		JBrowse link
G Bmp8b bone morphogenetic protein 8b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,386,058...135,411,337
Ensembl chr 5:135,386,311...135,405,197 		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 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335 		JBrowse link
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G C5h1orf210 similar to human chromosome 1 open reading frame 210 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,048,755...132,051,913
Ensembl chr 5:132,048,773...132,051,925 		JBrowse link
G C5h1orf216 similar to human chromosome 1 open reading frame 216 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,900,045...138,905,267
Ensembl chr 5:138,900,581...138,905,273 		JBrowse link
G C5h1orf50 similar to human chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,837,135...132,841,744
Ensembl chr 5:132,836,506...132,841,762 		JBrowse link
G C5h1orf94 similar to human chromosome 1 open reading frame 94 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,282,041...140,325,815
Ensembl chr 5:140,282,043...140,325,815 		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 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769 		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 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673 		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 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029 		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 5:132,926,767...133,019,635
Ensembl chr 5:132,926,615...133,019,659 		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 5:137,251,596...137,255,799
Ensembl chr 5:131,966,215...131,970,512 		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 5:137,176,414...137,198,686
Ensembl chr 5:137,176,417...137,198,629 		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 chr10:43,509,823...43,519,693
Ensembl chr10:43,509,826...43,520,086 		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 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462 		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 5:134,246,936...134,247,827
Ensembl chr 5:134,246,682...134,248,135 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,850,119...138,885,037
Ensembl chr 5:138,850,128...138,885,034 		JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		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 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		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 5:140,342,352...140,912,422
Ensembl chr 5:140,342,376...140,912,234 		JBrowse link
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		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 5:139,491,972...139,562,625
Ensembl chr 5:139,492,947...139,562,625 		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 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742 		JBrowse link
G Dnali1 dynein, axonemal, light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,318,475...137,327,313
Ensembl chr 5:137,318,477...137,327,336 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395 		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 5:130,605,437...130,607,224
Ensembl chr 5:130,605,399...130,607,666 		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 5:132,148,164...132,152,730
Ensembl chr 5:132,148,143...132,153,267 		JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		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 5:137,246,781...137,251,351
Ensembl chr 5:131,961,322...131,965,958 		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 5:137,139,588...137,175,637
Ensembl chr 5:137,140,735...137,174,157 		JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329 		JBrowse link
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847 		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 5:138,427,088...138,429,602
Ensembl chr 5:138,427,151...138,432,433 		JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,494,440...134,497,757
Ensembl chr 5:134,493,829...134,497,772 		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 5:136,953,947...136,961,317
Ensembl chr 5:136,950,411...136,961,317 		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 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731 		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 5:133,140,344...133,228,489
Ensembl chr 5:133,140,884...133,228,489 		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 5:133,856,087...133,876,387
Ensembl chr 5:133,856,072...133,876,573 		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 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		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 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		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 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		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 5:139,680,670...139,683,588
Ensembl chr 5:139,680,671...139,683,583 		JBrowse link
G Gnl2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,293,141...137,318,528
Ensembl chr 5:137,293,081...137,318,526 		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 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459 		JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307 		JBrowse link
G Guca2a guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,237,177...133,239,019
Ensembl chr 5:133,237,177...133,239,018 		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 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966 		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 5:135,706,437...135,715,173
Ensembl chr 5:130,469,840...130,478,561 		JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,508,160...135,525,152
Ensembl chr 5:135,508,160...135,525,152 		JBrowse link
G Hivep3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,325,327...133,727,797
Ensembl chr 5:133,658,052...133,727,795 		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 5:140,616,040...140,616,722
Ensembl chr 5:140,615,197...140,616,770 		JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		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 5:135,454,477...135,466,417
Ensembl chr 5:135,454,540...135,466,416 		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 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,894,575...131,897,709
Ensembl chr 5:131,894,598...131,897,251 		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 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315 		JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043 		JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242 		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 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932 		JBrowse link
G Kdm4a lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501 		JBrowse link
G Kiaa0319l KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,047,847...139,140,709
Ensembl chr 5:139,046,143...139,140,715 		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 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637 		JBrowse link
G Klf17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505 		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 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		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 5:137,115,154...137,122,299
Ensembl chr 5:137,115,632...137,122,353 		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 5:138,527,944...138,552,537
Ensembl chr 5:138,527,401...138,552,499 		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 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606 		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 5:142,628,281...142,653,076
Ensembl chr 5:137,344,380...137,370,014 		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 5:137,234,028...137,234,912
Ensembl chr 5:131,943,982...131,950,305 		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 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Mir30c1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,349,237...134,349,325
Ensembl chr 5:134,349,237...134,349,325 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		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 5:138,321,610...138,332,205
Ensembl chr 5:138,321,593...138,332,205 		JBrowse link
G Mtf1 metal-regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,062,319...137,107,136
Ensembl chr 5:137,062,376...137,107,136 		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 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		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 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616 		JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582 		JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928 		JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568 		JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,974,029...135,979,705
Ensembl chr 5:135,974,034...135,979,603
Ensembl chr14:135,974,034...135,979,603
Ensembl chr 2:135,974,034...135,979,603 		JBrowse link
G Nfyc nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,336,802...134,405,372
Ensembl chr 5:134,336,808...134,405,377 		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 5:135,473,107...135,494,400
Ensembl chr 5:135,473,231...135,499,338 		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 5:138,334,552...138,365,220
Ensembl chr 5:138,333,893...138,366,822 		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 5:135,396,632...135,398,386 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 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		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 5:135,563,142...135,578,985
Ensembl chr 5:135,563,562...135,578,979 		JBrowse link
G Phc2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,000,604...141,099,268
Ensembl chr 5:141,050,842...141,099,268 		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 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583 		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 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,910,391...136,913,371
Ensembl chr 5:136,910,391...136,913,371 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,023,077...133,026,899
Ensembl chr 5:133,023,121...133,026,933 		JBrowse link
G Ppie peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,406,172...135,419,332
Ensembl chr 5:135,406,176...135,419,235 		JBrowse link
G Ppih peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,906,324...132,924,341
Ensembl chr 5:132,906,328...132,924,267 		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 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856 		JBrowse link
G Psmb2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,970,564...139,002,715
Ensembl chr 5:138,970,533...139,021,137 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		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 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023 		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 5:136,037,560...136,081,970
Ensembl chr 5:136,037,305...136,081,969 		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 5:133,072,179...133,098,840
Ensembl chr 5:133,073,960...133,098,792 		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 5:139,714,302...139,754,145
Ensembl chr 5:134,435,829...134,640,489 		JBrowse link
G Rlf RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,711,612...134,767,274
Ensembl chr 5:134,711,619...134,767,257 		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 5:146,690,453...146,715,729
Ensembl chr 5:141,406,118...141,431,380 		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 5:135,975,739...136,198,017
Ensembl chr 5:130,739,183...130,961,418 		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 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268 		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 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767 		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 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933 		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 5:141,494,352...141,535,752
Ensembl chr 5:141,494,353...141,535,525 		JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105 		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 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361 		JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472 		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 5:138,429,180...138,444,540
Ensembl chr 5:138,429,180...138,444,407 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728 		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 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105 		JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,530,542...134,576,938
Ensembl chr 5:134,530,543...134,576,938 		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 5:139,569,367...139,573,276
Ensembl chr 5:139,569,391...139,574,320 		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 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		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 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810 		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 5:138,380,049...138,417,802
Ensembl chr 5:138,381,159...138,417,796 		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 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735 		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 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,619,665...138,623,301
Ensembl chr 5:138,619,667...138,623,204 		JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292 		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 5:139,009,447...139,030,695
Ensembl chr 5:139,009,453...139,031,108 		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 5:138,445,284...138,487,544
Ensembl chr 5:138,445,295...138,487,477 		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 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592 		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 5:134,664,692...134,669,291
Ensembl chr 5:134,664,692...134,669,291 		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 5:132,063,162...132,064,566
Ensembl chr 5:132,059,554...132,079,297
Ensembl chr 5:132,059,554...132,079,297 		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 5:139,446,317...139,449,947
Ensembl chr 5:139,444,399...139,449,947 		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 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692 		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 5:141,449,191...141,455,683
Ensembl chr 5:141,449,191...141,455,682 		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 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655 		JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050 		JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819 		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 5:146,516,349...146,545,015
Ensembl chr 5:141,231,523...141,259,915 		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 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		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 5:136,931,279...136,946,164
Ensembl chr 5:136,931,008...136,946,191 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO
ISS 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C
OMIM:608323
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
G Ybx1 Y box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862 		JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120 		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 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351 		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 5:141,119,073...141,153,304
Ensembl chr 5:141,119,898...141,156,716 		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 5:134,502,002...134,516,428
Ensembl chr 5:134,501,998...134,514,358 		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 5:132,780,259...132,784,954
Ensembl chr 5:132,780,181...132,785,000 		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 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
G Zmym1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,364,788...139,381,883
Ensembl chr 5:139,364,789...139,381,873 		JBrowse link
G Zmym4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,146,782...139,264,387
Ensembl chr 5:139,146,665...139,264,421 		JBrowse link
G Zmym6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,396,374...139,444,357
Ensembl chr 5:139,396,727...139,444,279 		JBrowse link
G Zmynd12 zinc finger, MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,026,917...133,059,985
Ensembl chr 5:133,027,009...133,059,995 		JBrowse link
G Zscan20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,926,596...140,956,285
Ensembl chr 5:140,930,689...140,956,336 		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 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E OMIM
ClinVar		 PMID:6054293 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21866090 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F | ClinVar Annotator: match by term: GNB4-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23434117 PMID:25741868 More... NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G OMIM
ClinVar		 PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 ISS MouseDO NCBI chr 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:17932099 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		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 chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		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 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		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 chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C OMIM
ClinVar		 PMID:16199547 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 More... NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		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
ISS 		OMIM:616039
ClinVar Annotator: match by term: COX6A1-related condition | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D 		OMIM
MouseDO
ClinVar		 PMID:25152455 PMID:25741868 PMID:26302975 PMID:28492532 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041 		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 chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:82,930,034...83,107,177 		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 chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493 		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 chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552 		JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		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 chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Fcrla Fc receptor-like A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762 		JBrowse link
G Fcrlb Fc receptor-like B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		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 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-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 chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970 		JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr13:83,273,176...83,274,317 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 chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 chr20:21,308,555...21,326,881
Ensembl chr20:21,308,576...21,326,818 		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 chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:25614874 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 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 chr16:11,203,355...11,209,558
Ensembl chr16:11,122,718...11,158,623 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:28492532 PMID:32122354 NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		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 chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588 		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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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 chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970 		JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: HMSN 1A ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Nrg1 neuregulin 1 ISO RGD PMID:30931926 RGD:405650604 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS 		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 chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:11,203,355...11,209,558
Ensembl chr16:11,122,718...11,158,623 		JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588 		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
ISS 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:26378787 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		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 chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142 		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 chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		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 chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C | ClinVar Annotator: match by term: LITAF-related condition
OMIM:601098
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,259,328...5,270,848 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,871,817...4,872,312 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985 		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 chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235 		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 chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355 		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 chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562 		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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E
OMIM:118300
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 2:91,611,334...91,615,252
Ensembl chr 2:91,611,334...91,615,252 		JBrowse link
Charcot-Marie-Tooth Disease Type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION OMIM
ClinVar		 PMID:2965322 PMID:16652333 PMID:21576112 PMID:23328402 PMID:25741868 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
Charcot-Marie-Tooth Disease Type 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I | ClinVar Annotator: match by term: POLR3B-related condition OMIM
ClinVar		 PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
Charcot-Marie-Tooth Disease Type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 susceptibility ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J ClinVar
OMIM		 PMID:24627108 PMID:25741868 PMID:27549087 PMID:32949214 PMID:36302985 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		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 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195 		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: 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 chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		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 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113 		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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036 		JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324 		JBrowse link
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815 		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 2:176,358,909...176,416,178
Ensembl chr 2:174,062,976...174,118,355 		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 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883 		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 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		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 chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 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 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400 		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 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757 		JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,563,917...159,573,534 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 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		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 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		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 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059 		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 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:175,714,862...175,719,208
Ensembl chr 2:173,416,857...173,421,379 		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 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		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 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939 		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 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		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 2:177,063,083...177,079,914
Ensembl chr 2:174,765,350...174,781,806 		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 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,540,715...159,553,639
Ensembl chr 5:159,540,715...159,553,633 		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 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806 		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 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		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 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		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 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866 		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 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736 		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 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979 		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:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		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 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281 		JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940 		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 5:163,876,079...163,881,508
Ensembl chr 5:158,592,925...158,598,355 		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 5:163,866,517...163,875,928
Ensembl chr 5:158,583,366...158,592,363 		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 5:163,859,909...163,865,693
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528 		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 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		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 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		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 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		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 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960 		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 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		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 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		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 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		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 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chr 2:45,295,285...45,295,999
Ensembl chr 2:45,295,053...45,296,145 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493 		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 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		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 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956 		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 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145 		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 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		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 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18334619 PMID:18726616 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		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 chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		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 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405 		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 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		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 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type 		ClinVar PMID:262236 PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:205,743,580...205,759,879 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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685 		JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693 		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 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		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 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457 		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 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694 		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 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395 		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 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		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 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		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 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		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 chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950 		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 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		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 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040 		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 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		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 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919 		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 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081 		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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		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 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270 		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 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758 		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 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321 		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 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		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 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,123,510...174,124,664 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 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245 		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 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961 		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 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		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 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102 		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 chr19:38,812,486...38,812,574
Ensembl chr19:38,812,486...38,812,574 		JBrowse link
G Snord111b small nucleolar RNA, C/D box 111B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,815,874...38,815,949
Ensembl chr19:38,815,874...38,815,949 		JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468 		JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		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 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type 		ClinVar PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976 		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 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594 		JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843 		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 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		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 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141 		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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404 		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 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107 		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 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 2:177,496,480...177,505,631
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:165,049,897...165,153,572
Ensembl chr 5:159,766,829...159,870,509 		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 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		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 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:205,765,309...205,769,234
Ensembl chr 1:205,745,120...205,816,520 		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 chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		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 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236 		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 4:85,274,626...85,358,083
Ensembl chr 4:83,949,309...84,027,818 		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 1:162,866,237...162,896,655
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G Kif1b kinesin family member 1B susceptibility ISO
ISS 		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
OMIM:118210
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9409358 PMID:9536098 PMID:11389829 PMID:16199547 PMID:17576681 More... RGD:12738406 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		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 chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Mfn2 mitofusin 2 ISO
ISS 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547 		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 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO
ISS 		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 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO
ISS 		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
OMIM:605588
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:1358482 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		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 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		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
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
OMIM:601472
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: ATP1A1-related condition | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar		 PMID:7977350 PMID:8526465 PMID:8981948 PMID:9536098 PMID:17576681 More... NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		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 chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611 		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 chr15:41,979,728...42,158,733
Ensembl chr15:41,979,729...42,158,649 		JBrowse link
G Ebf2 EBF transcription factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,435,509...41,634,403
Ensembl chr15:41,435,509...41,634,403 		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 chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr15:41,942,165...41,969,862
Ensembl chr15:41,942,381...41,969,862 		JBrowse link
G Nefl neurofilament light chain ISO
ISS 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
OMIM:607684
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 6:30,959,306...30,978,475
Ensembl chr 6:25,239,340...25,258,511 		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 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		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 2:171,798,654...171,950,193
Ensembl chr 2:169,500,634...169,652,927 		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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		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 chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		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 chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562 		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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-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 chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970 		JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639 		JBrowse link
G Mpz myelin protein zero ISO
ISS 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS 		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 chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease OMIM
ClinVar		 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr16:11,203,355...11,209,558
Ensembl chr16:11,122,718...11,158,623 		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 chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588 		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 chr20:45,798,344...45,967,997
Ensembl chr20:45,798,349...45,967,906 		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 chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136 		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 chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819 		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 chr20:46,980,246...47,017,059
Ensembl chr20:46,979,831...47,014,671 		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 chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248 		JBrowse link
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634 		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 chr20:45,238,039...45,294,575
Ensembl chr20:45,238,044...45,294,540 		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 chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		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:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		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 chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		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 chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		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 chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		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 chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		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 3:36,621,042...36,661,932
Ensembl chr 3:16,223,367...16,264,154 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		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 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		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 chr20:47,022,343...47,038,888
Ensembl chr20:47,022,342...47,038,805 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880 		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 chr20:46,050,134...46,071,257
Ensembl chr20:46,050,414...46,073,949 		JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708 		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 chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Ppil6 peptidylprolyl isomerase like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,989,509...45,017,833
Ensembl chr20:44,988,943...45,018,340 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 		ClinVar PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135 		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 chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		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 chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 		ClinVar PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		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 chr20:46,347,350...46,441,246
Ensembl chr20:46,347,413...46,440,103 		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 chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		JBrowse link
G Sesn1 sestrin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:45,294,876...45,387,698
Ensembl chr20:45,294,871...45,387,697 		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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		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 chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Smpd2 sphingomyelin phosphodiesterase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:44,986,229...44,989,343
Ensembl chr20:44,986,231...44,989,441 		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 chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379 		JBrowse link
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541 		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 chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858 		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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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 chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963 		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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		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
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1
OMIM:601382
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:16199547 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		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
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2
OMIM:604563
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		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 chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395 		JBrowse link
G Sbf1 SET binding factor 1 ISO
ISS 		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 chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		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
ISS 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder
OMIM:601596
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
OMIM:601455
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E ClinVar PMID:25741868 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Egr2 early growth response 2 ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
OMIM:605253
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More... NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition OMIM
ClinVar		 PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		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 chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		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
ISS 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H | ClinVar Annotator: match by term: FGD4-related condition
OMIM:609311
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972 		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
ISS 		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J
OMIM:611228
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18261132 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K OMIM
ClinVar		 PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More... NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISS OMIM:601152 | OMIM:616505 MouseDO NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		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 chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
Charcot-Marie-Tooth disease type X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17436253 PMID:17576681 PMID:20362274 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		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:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		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:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		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:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		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:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		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:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629 		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:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		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:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		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:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		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:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183 		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:105,344,020...105,360,004 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:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013 		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:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956 		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:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		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:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899 		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:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		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:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097 		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:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		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:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		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:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519 		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:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		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:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		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:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861 		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:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633 		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:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:132,230,243...132,266,139
Ensembl chr  X:127,352,345...127,388,245 		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 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related disorder | ClinVar Annotator: match by term: HMSN, X-LINKED
OMIM:302800
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:18465152 PMID:20876471 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: HMSN, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		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:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		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 chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		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 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box 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 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        neuromuscular disease 3234
          Charcot-Marie-Tooth disease 729
            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 + 65
            Charcot-Marie-Tooth disease type 2 + 319
            Charcot-Marie-Tooth disease type 3 11
            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 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          neurodegenerative disease 5079
            Nervous System Heredodegenerative Disorders 3371
              motor peripheral neuropathy 1304
                Charcot-Marie-Tooth disease 729
                  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 + 65
                  Charcot-Marie-Tooth disease type 2 + 319
                  Charcot-Marie-Tooth disease type 3 11
                  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