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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 hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
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: OMIM:180800;   RDO:0000338
 xref: GARD:6034;   ICD9CM:356.1;   NCI:C75467;   OMIM:PS118220
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, type 2 ClinVar PMID:20045102 PMID:22009580 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25025039 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27549087 PMID:28492532 PMID:29653220 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25164601 PMID:26558264 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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 PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:21676617 PMID:21898660 PMID:22734908 PMID:25208129 PMID:25273835 PMID:25326635 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27321750 PMID:27443559 PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23142943 PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,700,539...77,025,463 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 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:19506225 PMID:23143281 PMID:24604904 PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:70,555,953...70,571,433
Ensembl chr 7:70,556,019...70,572,614
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:27083531 PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
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 PMID:20529869 PMID:20817456 PMID:21762456 PMID:22091729 PMID:22613877 PMID:24016602 PMID:25025039 PMID:25492887 PMID:25501959 PMID:27328317 PMID:28492532 PMID:28676641 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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 PMID:24727570 PMID:25326637 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:18414213 PMID:21820100 PMID:22847149 PMID:24033266 PMID:24136616 PMID:25025039 PMID:25741868 PMID:26344056 PMID:26378787 PMID:26467025 PMID:28492532 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 PMID:11523566 PMID:11545686 PMID:12471219 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20513111 PMID:21149811 PMID:22271166 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26467025 PMID:27159987 PMID:28492532 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 PMID:12687659 PMID:16964593 PMID:17206408 PMID:20301359 PMID:22190446 PMID:22850346 PMID:23515154 PMID:24033266 PMID:25741868 PMID:27065010 PMID:28492532 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
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:22734899 PMID:23466821 PMID:23550889 PMID:24078732 PMID:25231362 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
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:17572665 PMID:19118816 PMID:21705420 PMID:23336365 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25614874 PMID:25741868 PMID:26467025 PMID:28051077 PMID:28492532 PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:28492532 NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 PMID:16014653 PMID:16534118 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:17663003 PMID:19329989 PMID:21737751 PMID:23279345 PMID:24078732 PMID:24088041 PMID:24604904 PMID:24669931 PMID:25168514 PMID:25420567 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26244500 PMID:26467025 PMID:26503042 PMID:26517670 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:28492532 PMID:28594869 PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12821518 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16343542 PMID:17001820 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18062449 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18991200 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21692914 PMID:21753178 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22730194 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25231362 PMID:25326637 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391 PMID:30311386, PMID:12499475, PMID:24480485 RGD:1358634, RGD:12738398 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1211842 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 PMID:8004109 PMID:8162049 PMID:8266101 PMID:8628473 PMID:8698335 PMID:8737658 PMID:8800924 PMID:8816997 PMID:8829637 PMID:8990008 PMID:9018031 PMID:9099841 PMID:9187667 PMID:9272161 PMID:9328258 PMID:9354338 PMID:9361298 PMID:9364054 PMID:9401007 PMID:9452025 PMID:9452099 PMID:9469569 PMID:9469571 PMID:9541114 PMID:9592087 PMID:9600589 PMID:9633821 PMID:9818870 PMID:9854984 PMID:9856562 PMID:9888385 PMID:10093067 PMID:10102421 PMID:10207904 PMID:10220155 PMID:10234007 PMID:10487913 PMID:10521546 PMID:10586227 PMID:10586261 PMID:10586284 PMID:10586291 PMID:10587015 PMID:10639608 PMID:10646523 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10894999 PMID:10923043 PMID:10938190 PMID:11030070 PMID:11085599 PMID:11140841 PMID:11180613 PMID:11252295 PMID:11257785 PMID:11271367 PMID:11325342 PMID:11393532 PMID:11404117 PMID:11437164 PMID:11438991 PMID:11545686 PMID:11562788 PMID:11571214 PMID:11723288 PMID:11835375 PMID:11891346 PMID:12111842 PMID:12185164 PMID:12207932 PMID:12325071 PMID:12362307 PMID:12402337 PMID:12460545 PMID:12477701 PMID:12497641 PMID:12536289 PMID:12542510 PMID:12614935 PMID:12707076 PMID:14607795 PMID:14627639 PMID:14663027 PMID:14960772 PMID:14991359 PMID:15006706 PMID:15241803 PMID:15468313 PMID:15574129 PMID:15719046 PMID:15852376 PMID:16096811 PMID:16401743 PMID:16476939 PMID:16688595 PMID:16912585 PMID:16922730 PMID:17100997 PMID:17297706 PMID:17353473 PMID:17620124 PMID:17646144 PMID:17714866 PMID:18254389 PMID:18379723 PMID:18380022 PMID:18380028 PMID:18636082 PMID:18717720 PMID:18846639 PMID:19062535 PMID:19259128 PMID:19369543 PMID:19448103 PMID:19691535 PMID:20039784 PMID:20128140 PMID:20193560 PMID:20435583 PMID:20491857 PMID:20593665 PMID:20857133 PMID:20942588 PMID:21104867 PMID:21149811 PMID:21254193 PMID:21280457 PMID:21282593 PMID:21291455 PMID:21300330 PMID:21309765 PMID:21326314 PMID:21607969 PMID:21692908 PMID:21922480 PMID:22159091 PMID:22243284 PMID:22464564 PMID:22771394 PMID:22820753 PMID:22944031 PMID:23011429 PMID:23106488 PMID:23209285 PMID:23232577 PMID:23279342 PMID:23384994 PMID:23649551 PMID:23773993 PMID:23838279 PMID:24053775 PMID:24078732 PMID:24170412 PMID:24444136 PMID:24627108 PMID:24768312 PMID:24958582 PMID:25025039 PMID:25043634 PMID:25086786 PMID:25388846 PMID:25429913 PMID:25595958 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25883816 PMID:25947624 PMID:25969535 PMID:26385972 PMID:26454100 PMID:26467025 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27098783 PMID:27367520 PMID:27544631 PMID:27549087 PMID:27804109 PMID:27812541 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28097225 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 PMID:31211173 PMID:224645664 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity IEP
ISO
RGD PMID:22189569, PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
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 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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:28492532 PMID:29787766 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11528513 PMID:15122254 PMID:16215937 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18832141 PMID:18952241 PMID:19435728 PMID:20178975 PMID:20660910 PMID:20870250 PMID:21149811 PMID:21611841 PMID:21892769 PMID:21983720 PMID:22031878 PMID:22176143 PMID:22206013 PMID:22521462 PMID:22734906 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:25025039 PMID:25088881 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25614874 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 PMID:30311386 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1517763 PMID:15021985 PMID:15122253 PMID:15565283 PMID:20538880 PMID:21985219 PMID:23796487 PMID:26718575 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 6:60,132,025...60,151,354
Ensembl chr 6:60,132,024...60,151,420
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26922252 PMID:27450922 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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 PMID:23515051 PMID:23521651 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:26467025 PMID:27350175 PMID:28492532 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9409358 PMID:11389829 PMID:18334619 PMID:24033266 PMID:24469107 PMID:25025039 PMID:25741868 PMID:28492532 PMID:29590070 PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:1678513 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16373087 PMID:16787513 PMID:19541485 PMID:23319192 PMID:23576546 PMID:24604904 PMID:24844793 PMID:24880540 PMID:25058650 PMID:25342198 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27549087 PMID:28211240 PMID:28492532 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:2526018 PMID:8621584 PMID:10080180 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11102973 PMID:11180602 PMID:11344241 PMID:11503164 PMID:11792811 PMID:11799477 PMID:12057196 PMID:12075506 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12702809 PMID:12768443 PMID:12788894 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14684700 PMID:14985400 PMID:15060110 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15965218 PMID:15998779 PMID:16084085 PMID:16174718 PMID:16585054 PMID:16772334 PMID:17107595 PMID:17250669 PMID:17250699 PMID:17347251 PMID:17377071 PMID:17536044 PMID:17711925 PMID:17848409 PMID:18348272 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18604166 PMID:18714801 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19084400 PMID:19220582 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19432833 PMID:19524666 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20497714 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21520333 PMID:21535365 PMID:21831885 PMID:21883346 PMID:21980471 PMID:22071332 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22276265 PMID:22331516 PMID:22355414 PMID:22526018 PMID:22570643 PMID:23062543 PMID:23349452 PMID:23497705 PMID:23804595 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24794538 PMID:25025039 PMID:25049529 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25982065 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:27000522 PMID:27153395 PMID:27199538 PMID:27447704 PMID:27532257 PMID:27650965 PMID:27723096 PMID:27841971 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28087566 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28701371 PMID:28785654 PMID:28790152 PMID:28807990 PMID:29078011 PMID:29943882 PMID:30012837 PMID:30137533 PMID:30311386 PMID:30402260 PMID:30420677 PMID:30488537 PMID:30765282 PMID:30901896 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26752306 PMID:28286897 PMID:28335037 PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:25913036 PMID:28492532 PMID:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
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 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 PMID:11181170 PMID:12601114 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17502546 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:19909486 PMID:20008656 PMID:20193559 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:21892769 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22653593 PMID:22762946 PMID:22851605 PMID:22926664 PMID:22957060 PMID:23456260 PMID:23615052 PMID:23806086 PMID:23929728 PMID:24018473 PMID:24033266 PMID:24050734 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24487800 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26316991 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26752306 PMID:26801520 PMID:26916081 PMID:26930221 PMID:26955893 PMID:26968897 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30311386 PMID:30882371 PMID:31188717 PMID:32963807 PMID:198122151 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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:25741893 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:27329773 PMID:27794525 PMID:28334961 PMID:28402445 PMID:28492532 PMID:28581500 PMID:28771897 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
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: Roussy-Levy Syndrome
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by OMIM:180800
ClinVar Annotator: match by OMIM:118200
ClinVar
OMIM
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 PMID:7530774 PMID:7550231 PMID:7688964 PMID:7693129 PMID:7693130 PMID:7694726 PMID:8644725 PMID:8664899 PMID:8797476 PMID:8800924 PMID:8816708 PMID:8835320 PMID:8844219 PMID:8990016 PMID:9187667 PMID:9217235 PMID:9452091 PMID:9452099 PMID:9595994 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10093067 PMID:10329755 PMID:10399750 PMID:10406984 PMID:10463363 PMID:10475757 PMID:10533074 PMID:10545037 PMID:10553995 PMID:10581375 PMID:10737979 PMID:10764043 PMID:10885340 PMID:10923043 PMID:10965800 PMID:11080236 PMID:11080237 PMID:11085599 PMID:11160475 PMID:11437164 PMID:11484669 PMID:11545686 PMID:11701152 PMID:11801400 PMID:11835375 PMID:12090401 PMID:12207153 PMID:12207932 PMID:12221176 PMID:12242557 PMID:12402337 PMID:12477701 PMID:12497641 PMID:12707985 PMID:12807974 PMID:12911457 PMID:12940837 PMID:12948789 PMID:12953275 PMID:14711881 PMID:14742601 PMID:14871447 PMID:15036333 PMID:15050444 PMID:15094849 PMID:15159512 PMID:15170620 PMID:15241803 PMID:15261887 PMID:15377707 PMID:15642860 PMID:15729519 PMID:16198109 PMID:16279991 PMID:16488608 PMID:16495463 PMID:16521307 PMID:16543539 PMID:16616845 PMID:16616847 PMID:16775239 PMID:16987171 PMID:17030746 PMID:17143884 PMID:17294201 PMID:17297707 PMID:17468193 PMID:17915947 PMID:17940173 PMID:18209201 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18380018 PMID:18380030 PMID:18422810 PMID:18636082 PMID:18663734 PMID:19259128 PMID:19293842 PMID:19454582 PMID:19475438 PMID:19629567 PMID:19691535 PMID:19882637 PMID:19918771 PMID:20215982 PMID:20385006 PMID:20456450 PMID:20461396 PMID:20516806 PMID:20556410 PMID:20571287 PMID:20621479 PMID:20800346 PMID:20937820 PMID:21107784 PMID:21149811 PMID:21326314 PMID:21503568 PMID:21840889 PMID:22018721 PMID:22176150 PMID:22222859 PMID:22433810 PMID:22451207 PMID:22622165 PMID:22734905 PMID:23197742 PMID:23279346 PMID:23290023 PMID:23342407 PMID:23649551 PMID:23806086 PMID:24028194 PMID:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24444136 PMID:24819634 PMID:25025039 PMID:25388615 PMID:25429913 PMID:25430934 PMID:25614874 PMID:25694466 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26257172 PMID:26310628 PMID:26392352 PMID:26454100 PMID:26467025 PMID:27088055 PMID:27639257 PMID:28286897 PMID:28492532 PMID:29465609 PMID:29687021 PMID:30311386, PMID:11080237 RGD:1358513 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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:30311386 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 Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 PMID:14530412 PMID:15469949 PMID:15505184 PMID:17973976 PMID:23781969 PMID:25025039 PMID:25231362 PMID:25741868 PMID:26467025 PMID:27582484 PMID:28492532 NCBI chr 8:12,283,471...12,334,014
Ensembl chr 8:12,284,528...12,333,316
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12872253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17620486 PMID:19158810 PMID:20039262 PMID:21149811 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22765307 PMID:23618875 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:30311386 PMID:30373780, PMID:14733962 RGD:1358514 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:77656 PMID:10330344 PMID:10982191 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:12210794 PMID:12949319 PMID:15534759 PMID:16373086 PMID:18077166 PMID:18322713 PMID:18657423 PMID:21708027 PMID:22302274 PMID:22957891 PMID:24154508 PMID:27058611 PMID:27265460 PMID:27551041 PMID:27698470 PMID:28492532 PMID:28981924 PMID:29770739 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24011642 PMID:25741868 NCBI chr 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Roussy-Levy Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118220
DNA:missense mutation:cds:p.G107V (human)
ClinVar
CTD
OMIM
PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 PMID:1677316 PMID:1721895 PMID:1822787 PMID:7649472 PMID:8012388 PMID:8105684 PMID:8252046 PMID:8500795 PMID:8615087 PMID:8777804 PMID:8988161 PMID:9040737 PMID:9040744 PMID:9187667 PMID:9371959 PMID:9452099 PMID:9543325 PMID:9585367 PMID:9712007 PMID:9748013 PMID:9852256 PMID:10078969 PMID:10093067 PMID:10211478 PMID:10586280 PMID:10632107 PMID:10737979 PMID:11081809 PMID:11140841 PMID:11369192 PMID:11545686 PMID:11835375 PMID:12211648 PMID:12402337 PMID:12497641 PMID:12578939 PMID:12796555 PMID:14502374 PMID:15099590 PMID:15099592 PMID:15241803 PMID:15474367 PMID:15537650 PMID:15786462 PMID:16199442 PMID:16437560 PMID:16922730 PMID:17275665 PMID:17303424 PMID:17620487 PMID:17707409 PMID:17796454 PMID:18380017 PMID:18642376 PMID:19067730 PMID:19259128 PMID:19427269 PMID:19691535 PMID:19830275 PMID:19909487 PMID:20453308 PMID:20842290 PMID:21149811 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21337347 PMID:21692910 PMID:22006697 PMID:22131320 PMID:22382358 PMID:22730194 PMID:23263778 PMID:23279344 PMID:23313019 PMID:23965407 PMID:24239057 PMID:25192979 PMID:25400662 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:27609586 PMID:28286897 PMID:28333917 PMID:28492532 PMID:28748849 PMID:29127354, PMID:9409359, PMID:8630243, PMID:9040744 RGD:1358786, RGD:2312445, RGD:1358560 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Roussy-Levy Syndrome
ClinVar PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16534116 PMID:16770524 PMID:18410371 PMID:18504680 PMID:19837996 PMID:21079185 PMID:21326314 PMID:21741241 PMID:21840889 PMID:22847150 PMID:24011642 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25044680 PMID:25164601 PMID:25326635 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29858556 PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
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 PMID:18272684 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
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 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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 NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9521281 PMID:10932274 PMID:15304601 PMID:15477569 PMID:21840889 PMID:24627108 PMID:25231362 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24776970 PMID:25791876 PMID:28492532 PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Roussy-Levy Syndrome
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 PMID:25787132 NCBI chr 2:85,377,318...85,808,970
Ensembl chr 2:85,377,318...85,808,970
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15732101 PMID:16717225 PMID:25025039 PMID:25741868 PMID:25802885 PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9120441 PMID:14574644 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 PMID:18414213 PMID:18511281 PMID:18846676 PMID:19086034 PMID:19272779 PMID:19744956 PMID:20028792 PMID:20220177 PMID:20826437 PMID:21291453 PMID:21840889 PMID:22462672 PMID:22950825 PMID:22978647 PMID:23466821 PMID:23553667 PMID:23806086 PMID:24033266 PMID:25025039 PMID:25188385 PMID:25231362 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26752306 PMID:26794302 PMID:27231023 PMID:27549087 PMID:27582484 PMID:28492532 PMID:29184351 PMID:29321516 PMID:29336362 PMID:30001926 PMID:30311386 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12368912 PMID:16606917 PMID:17893295 PMID:20020398 PMID:21628467 PMID:25525159 PMID:25741868 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
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 chr18:24,369,104...24,397,412
Ensembl chr18:24,369,125...24,397,551
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 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
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 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24604904 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:28492532 PMID:31509666 PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25567748 PMID:26681808 PMID:28492532 PMID:29184351 PMID:30866134 PMID:31509666 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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
CTD
ClinVar
PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:10463355 PMID:11891693 PMID:14755468 PMID:15668982 PMID:18587396 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22065612 PMID:22187434 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26249260 PMID:26467025 PMID:26948711 PMID:27330106 PMID:27751652 PMID:28492532 PMID:28898540 PMID:29770609 PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:192115 PMID:1353008 PMID:1355416 PMID:1356051 PMID:1490495 PMID:1520326 PMID:1547960 PMID:1570831 PMID:1626556 PMID:1664269 PMID:1729893 PMID:1850190 PMID:1867256 PMID:1877623 PMID:1977686 PMID:1981182 PMID:1992765 PMID:1997217 PMID:2046936 PMID:2122246 PMID:2174830 PMID:2237288 PMID:2564060 PMID:2590199 PMID:2624269 PMID:2714785 PMID:2840822 PMID:2856994 PMID:2857043 PMID:2877582 PMID:2891727 PMID:2896079 PMID:2981253 PMID:3011930 PMID:3022107 PMID:3022108 PMID:3022697 PMID:3030336 PMID:3097057 PMID:3229002 PMID:3457802 PMID:3479441 PMID:3676699 PMID:3722385 PMID:3908483 PMID:4079954 PMID:4138132 PMID:4354899 PMID:5507249 PMID:5652991 PMID:5799493 PMID:6087811 PMID:6100724 PMID:6208668 PMID:6311926 PMID:6549130 PMID:6583672 PMID:6651852 PMID:6736244 PMID:6782125 PMID:7389759 PMID:7599630 PMID:7608709 PMID:7655883 PMID:7656439 PMID:7839813 PMID:7868124 PMID:7906282 PMID:7923855 PMID:8064809 PMID:8100581 PMID:8102146 PMID:8194279 PMID:8509786 PMID:8563114 PMID:8721565 PMID:8778271 PMID:8784093 PMID:8857732 PMID:9090525 PMID:9215058 PMID:9395311 PMID:9428731 PMID:9475090 PMID:9748014 PMID:9771673 PMID:9818054 PMID:9818883 PMID:9843084 PMID:10453736 PMID:10465115 PMID:10488818 PMID:10506096 PMID:10529370 PMID:10772944 PMID:11385707 PMID:11577236 PMID:11709003 PMID:11812437 PMID:11866053 PMID:11940682 PMID:12000195 PMID:12050338 PMID:12433265 PMID:12440486 PMID:12566023 PMID:12588803 PMID:12617705 PMID:14640030 PMID:14673473 PMID:14724437 PMID:14968122 PMID:14986482 PMID:15123043 PMID:15185492 PMID:15217993 PMID:15249622 PMID:15523922 PMID:15735344 PMID:15820680 PMID:15930086 PMID:16194874 PMID:16194875 PMID:16362527 PMID:16911959 PMID:17431395 PMID:17431450 PMID:17503405 PMID:17698792 PMID:17968687 PMID:18276611 PMID:18295603 PMID:18460047 PMID:18606975 PMID:18863976 PMID:18925456 PMID:18984591 PMID:19118530 PMID:19364362 PMID:19428025 PMID:19602727 PMID:19709674 PMID:19781421 PMID:19808383 PMID:20209591 PMID:20301373 PMID:20660862 PMID:20840742 PMID:21406045 PMID:21557933 PMID:21992998 PMID:22332999 PMID:22382560 PMID:22449240 PMID:22531659 PMID:22620962 PMID:22745357 PMID:23080516 PMID:23387326 PMID:23580146 PMID:23833285 PMID:23993291 PMID:24033266 PMID:24046394 PMID:24101373 PMID:24111657 PMID:24164154 PMID:24455802 PMID:24474780 PMID:24503780 PMID:24555660 PMID:24601850 PMID:24800914 PMID:24955979 PMID:25311081 PMID:25550818 PMID:25741868 PMID:25743335 PMID:25997029 PMID:26017327 PMID:26115788 PMID:26369527 PMID:26467025 PMID:26537620 PMID:27249223 PMID:27532257 PMID:27562180 PMID:27793437 PMID:27885756 PMID:28492532 PMID:28635949 PMID:28798025 PMID:29121657 PMID:31371117 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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:26138142 PMID:26257172 PMID:26975778 PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
OMIM
ClinVar
CTD
PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:10463355 PMID:11891693 PMID:14755468 PMID:15668982 PMID:18587396 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27066566 PMID:27330106 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 PMID:29770609 PMID:30311386 PMID:31041394 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC ClinVar
OMIM
PMID:27040688 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by OMIM:606595
OMIM
ClinVar
PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18832141 PMID:20178975 PMID:20660910 PMID:20870250 PMID:21611841 PMID:21785432 PMID:21892769 PMID:21983720 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22521462 PMID:22734906 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:25025039 PMID:25088881 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25614874 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 PMID:30311386 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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 Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,042,991...2,059,357
Ensembl chr 5:2,042,991...2,059,351
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human)
ClinVar Annotator: match by OMIM:607831
OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18492089 PMID:18504680 PMID:18991200 PMID:19089472 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21681106 PMID:21753178 PMID:21840889 PMID:21890626 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:25231362 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28492532 PMID:30311386, PMID:18492089, PMID:20232219 RGD:12738397, RGD:12738396 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K OMIM
ClinVar
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:29,798,845...29,812,777 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, type 2L
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
ClinVar Annotator: match by OMIM:608673
OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
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 NEUROPATHY, AXONAL, TYPE 2N
ClinVar Annotator: match by OMIM:613287
OMIM
ClinVar
PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26752306 PMID:28492532 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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 Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
OMIM
ClinVar
PMID:9781046 PMID:15826937 PMID:16519653 PMID:18414213 PMID:19074350 PMID:21076407 PMID:21820100 PMID:22368300 PMID:22459677 PMID:22847149 PMID:23603762 PMID:24033266 PMID:24136616 PMID:24307404 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25700176 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26395554 PMID:26467025 PMID:26633542 PMID:26795593 PMID:26846447 PMID:27549087 PMID:28193117 PMID:28196890 PMID:28263302 PMID:28325891 PMID:28492532 PMID:28554554 PMID:29243232 PMID:29653220 PMID:30122514 PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O ClinVar PMID:28492532 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
ClinVar Annotator: match by OMIM:614436
OMIM
ClinVar
PMID:3022865 PMID:14871449 PMID:14985381 PMID:15256501 PMID:16941080 PMID:17294338 PMID:20865121 PMID:21840889 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26392352 PMID:26752306 PMID:26900582 PMID:27164712 PMID:27615052 PMID:27686364 PMID:28286897 PMID:28335037 PMID:28492532 PMID:29341362 PMID:30996334 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2Q
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2q
OMIM
ClinVar
PMID:23141294 PMID:25326637 PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2S
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
ClinVar Annotator: match by OMIM:616155
OMIM
ClinVar
PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:18802676 PMID:19157874 PMID:19158098 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24088041 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26257172 PMID:27450922 PMID:28492532 PMID:29858556 PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2T ClinVar
OMIM
PMID:15464186 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30311386 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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 Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
ClinVar Annotator: match by term: MARS-Related Disorder
OMIM
ClinVar
PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
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 type 2V ClinVar
OMIM
PMID:25741868 PMID:25818867 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
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 disease, axonal type 2X OMIM
ClinVar
PMID:17322883 PMID:18079167 PMID:18332254 PMID:18663179 PMID:19105190 PMID:19438933 PMID:20110243 PMID:25299611 PMID:25741868 PMID:26467025 PMID:26556829 PMID:27217339 PMID:28492532 PMID:28554332 PMID:29246610 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
OMIM
ClinVar
PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:27329773 PMID:27794525 PMID:28135719 PMID:28334961 PMID:28402445 PMID:28492532 PMID:28581500 PMID:28771897 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
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 Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B
ClinVar Annotator: match by term: DNM2-related intermediate Charcot-Marie-Tooth neuropathy
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
ClinVar Annotator: match by synonym: Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
ClinVar Annotator: match by synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M
ClinVar Annotator: match by OMIM:606482
OMIM
ClinVar
PMID:15731758 PMID:16227997 PMID:17008356 PMID:17636067 PMID:17932957 PMID:18414213 PMID:18560793 PMID:19130742 PMID:19502294 PMID:19623537 PMID:19932619 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22451505 PMID:22613877 PMID:23338057 PMID:23394783 PMID:23806086 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 PMID:25259927 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27328317 PMID:27343996 PMID:27549087 PMID:27854218 PMID:28357347 PMID:28492532 PMID:28676641 PMID:30311386 PMID:30373780 PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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 5:146,933,592...146,945,882
Ensembl chr 5:146,933,592...146,945,880
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 5:144,336,312...144,341,586
Ensembl chr 5:144,336,312...144,341,586
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 5:144,444,390...144,479,430
Ensembl chr 5:144,448,792...144,479,306
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 5:144,355,792...144,436,509
Ensembl chr 5:144,364,269...144,436,509
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 5:144,501,875...144,557,165
Ensembl chr 5:144,504,938...144,556,889
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 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,415,226...141,430,627
Ensembl chr 5:141,415,075...141,430,659
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 5:135,482,068...135,498,693
Ensembl chr 5:135,482,068...135,498,822
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 5:136,073,056...136,112,344
Ensembl chr 5:136,073,056...136,112,344
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
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 5:136,718,352...136,719,868
Ensembl chr 5:136,718,352...136,721,379
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 5:147,120,128...147,148,576
Ensembl chr 5:147,120,129...147,148,291
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 5:136,707,510...136,717,345
Ensembl chr 5:136,707,510...136,715,981
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,013,978...136,017,742
Ensembl chr 5:136,014,017...136,017,677
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 5:141,007,462...141,033,511
Ensembl chr 5:141,007,462...141,033,511
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 5:135,988,549...135,994,985
Ensembl chr 5:135,987,573...135,994,848
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 5:140,559,195...140,585,494
Ensembl chr 5:140,559,206...140,585,408
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 5:135,440,276...135,445,794
Ensembl chr 5:135,442,031...135,445,791
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 5:136,691,655...136,707,197
Ensembl chr 5:136,703,674...136,706,998
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 5:138,364,211...138,462,922
Ensembl chr 5:138,364,167...138,462,864
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 5:137,260,728...137,264,931
Ensembl chr 5:137,260,739...137,265,015
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 5:142,911,310...142,933,536
Ensembl chr 5:142,911,305...142,933,526
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 5:137,383,065...137,458,594
NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184
Ensembl chr 5:137,383,048...137,458,184
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 5:139,597,731...139,598,622
Ensembl chr 5:139,597,731...139,598,622
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,577,670...144,617,507
Ensembl chr 5:144,581,427...144,616,335
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 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864
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 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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 5:146,091,167...146,743,436
Ensembl chr 5:146,383,942...146,739,418
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 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
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 5:145,234,757...145,304,536
Ensembl chr 5:145,257,714...145,304,536
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 5:136,533,791...136,541,795
Ensembl chr 5:136,533,792...136,541,795
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 5:143,053,365...143,062,203
Ensembl chr 5:143,053,367...143,062,226
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 5:136,723,398...136,726,358
Ensembl chr 5:136,723,406...136,726,358
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 5:135,995,128...135,997,807
Ensembl chr 5:135,997,052...135,997,711
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 5:137,458,692...137,463,255
Ensembl chr 5:137,670,123...137,674,802
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
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 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
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 5:137,255,868...137,260,486
Ensembl chr 5:137,255,908...137,260,483
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 5:142,875,171...142,910,537
Ensembl chr 5:142,875,773...142,908,395
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 5:136,406,009...136,533,408
Ensembl chr 5:136,406,130...136,533,389
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 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
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 5:144,160,026...144,161,421
Ensembl chr 5:144,160,108...144,161,410
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,849,930...139,853,247
Ensembl chr 5:139,849,930...139,853,247
JBrowse link
G Fam183a family with sequence similarity 183 member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr10:44,736,547...44,746,907
Ensembl chr10:44,736,545...44,746,549
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 5:142,688,962...142,696,330
Ensembl chr 5:142,689,026...142,696,383
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 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
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 5:138,587,968...138,676,948
Ensembl chr 5:138,605,793...138,676,962
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 5:139,208,153...139,227,288
Ensembl chr 5:139,208,046...139,227,196
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 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
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 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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 5:145,422,034...145,440,558
Ensembl chr 5:145,422,357...145,423,172
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 5:143,027,970...143,053,418
Ensembl chr 5:143,027,977...143,055,190
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 5:135,398,926...135,439,772
Ensembl chr 5:135,412,256...135,439,577
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 5:143,500,441...143,715,546
Ensembl chr 5:143,500,441...143,715,546
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 5:138,685,634...138,687,476
Ensembl chr 5:138,685,624...138,687,816
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 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
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 5:135,860,578...135,870,535
Ensembl chr 5:135,860,675...135,868,495
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 5:140,923,914...140,940,905
Ensembl chr 5:140,923,914...140,940,905
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 5:138,774,501...139,077,403
Ensembl chr 5:139,007,642...139,077,377
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 5:146,445,545...146,446,227
Ensembl chr 5:146,445,545...146,446,227
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
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 5:140,870,127...140,882,242
Ensembl chr 5:140,870,140...140,882,244
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 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,189,440...137,192,125
Ensembl chr 5:137,189,473...137,192,240
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 5:142,731,767...142,796,305
Ensembl chr 5:142,731,767...142,796,305
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,728,744...136,749,187
Ensembl chr 5:136,728,740...136,748,980
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 5:135,351,767...135,390,363
Ensembl chr 5:135,351,816...135,388,083
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 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
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 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
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 5:136,027,923...136,053,268
Ensembl chr 5:136,027,934...136,053,210
JBrowse link
G Klf17 Kruppel-like factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,602,472...136,610,058
Ensembl chr 5:136,602,395...136,610,054
JBrowse link
G LOC100294508 dyslexia susceptibility 2-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,779,306...144,872,271
Ensembl chr 5:144,779,681...144,872,271
JBrowse link
G LOC100361083 hypothetical LOC100361083 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,096,801...141,100,963 JBrowse link
G LOC100912566 UPF0500 protein C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,320,693...146,342,159
Ensembl chr 5:146,337,491...146,342,154
JBrowse link
G LOC682102 hypothetical protein LOC682102 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,023,695...146,069,623
Ensembl chr 5:146,023,696...146,069,670
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 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
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 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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 5:142,850,139...142,857,292
Ensembl chr 5:142,851,526...142,857,131
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 5:144,250,416...144,274,981
Ensembl chr 5:144,250,419...144,274,981
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 5:135,149,336...135,285,337
Ensembl chr 5:135,149,307...135,285,337
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 5:143,081,298...143,103,225
Ensembl chr 5:143,081,326...143,103,222
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
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 5:139,699,877...139,699,965
Ensembl chr 5:139,699,877...139,699,965
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 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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 5:144,054,452...144,065,045
Ensembl chr 5:144,054,452...144,065,045
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 5:142,797,340...142,843,896
Ensembl chr 5:142,797,366...142,842,122
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 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
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 5:141,560,192...141,567,399
Ensembl chr 5:141,560,192...141,567,399
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 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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 5:135,446,485...135,472,113
Ensembl chr 5:135,446,962...135,472,116
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,769,452...144,779,271
Ensembl chr 5:144,769,452...144,779,212
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 5:141,390,577...141,405,507
Ensembl chr 5:141,390,580...141,405,453
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 5:139,687,442...139,760,154
Ensembl chr 5:139,687,448...139,749,050
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 5:140,888,862...140,909,322
Ensembl chr 5:140,888,973...140,904,207
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 5:144,067,391...144,099,693
Ensembl chr 5:144,067,416...144,098,207
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 5:140,813,957...140,815,711 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 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
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 5:140,978,893...140,994,732
Ensembl chr 5:140,979,435...140,994,732
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 5:146,832,552...146,931,444
Ensembl chr 5:146,882,756...146,931,444
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 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
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 5:135,997,725...136,002,900
Ensembl chr 5:135,997,725...136,002,900
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 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
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 5:142,643,599...142,646,580
Ensembl chr 5:142,643,599...142,646,580
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,466,298...138,470,108
Ensembl chr 5:138,466,293...138,470,096
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 5:140,822,141...140,835,244
Ensembl chr 5:140,822,141...140,834,959
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 5:138,343,934...138,361,743
Ensembl chr 5:138,352,916...138,361,702
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 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
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 5:144,702,004...144,734,220
Ensembl chr 5:144,701,949...144,734,257
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
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 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
JBrowse link
G RGD1305347 similar to RIKEN cDNA 2610528J11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,356,777...137,360,636
Ensembl chr 5:137,356,801...137,360,580
JBrowse link
G RGD1559909 RGD1559909 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,844,079...142,845,116
Ensembl chr 5:142,844,079...142,845,116
JBrowse link
G RGD1560436 similar to hypothetical protein FLJ20508 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,933,619...142,940,807
Ensembl chr 5:142,933,619...142,938,925
JBrowse link
G RGD1564804 similar to chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,274,907...138,279,285
Ensembl chr 5:138,274,907...138,279,285
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 5:141,462,579...141,511,893
Ensembl chr 5:141,491,223...141,507,892
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 5:138,518,559...138,545,577
Ensembl chr 5:138,521,340...138,545,404
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 5:139,790,395...139,819,014
Ensembl chr 5:139,783,951...139,819,016
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 5:140,107,144...140,162,698
Ensembl chr 5:140,107,275...140,162,642
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 5:147,246,032...147,270,892
Ensembl chr 5:147,246,037...147,270,957
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 5:136,129,457...136,351,752
Ensembl chr 5:136,129,425...136,166,786
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 5:136,020,941...136,023,511
Ensembl chr 5:136,020,941...136,023,511
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 5:141,572,536...141,590,784
Ensembl chr 5:141,572,536...141,590,781
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 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,333,890...147,375,151
Ensembl chr 5:147,335,242...147,375,009
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 5:139,379,256...139,466,805
Ensembl chr 5:139,385,429...139,466,081
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 5:142,702,721...142,722,350
Ensembl chr 5:142,702,685...142,722,341
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 5:145,079,803...145,088,517
Ensembl chr 5:145,079,803...145,088,498
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 5:144,161,881...144,178,161
Ensembl chr 5:144,162,141...144,176,807
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 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
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 5:139,467,933...139,473,599
Ensembl chr 5:139,468,546...139,473,017
JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,885,321...139,931,366
Ensembl chr 5:139,885,326...139,931,366
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 5:145,311,317...145,315,185
Ensembl chr 5:145,311,375...145,315,185
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
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 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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 5:144,112,612...144,150,653
Ensembl chr 5:144,114,012...144,150,647
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 5:138,245,639...138,251,353
Ensembl chr 5:138,245,639...138,251,353
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 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,341,955...144,345,500
Ensembl chr 5:144,341,946...144,345,531
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 5:135,574,172...135,659,842
Ensembl chr 5:135,574,172...135,659,842
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 5:144,740,950...144,761,787
Ensembl chr 5:144,740,956...144,761,787
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 5:144,178,248...144,221,318
Ensembl chr 5:144,179,023...144,221,263
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 5:137,294,544...137,321,116
Ensembl chr 5:137,294,544...137,321,121
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 5:140,019,871...140,024,458
Ensembl chr 5:140,019,878...140,024,176
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 5:137,371,825...137,373,229
Ensembl chr 5:137,371,825...137,373,205
Ensembl chr 5:137,371,825...137,373,205
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 5:145,188,323...145,191,953
Ensembl chr 5:145,188,323...145,191,953
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 5:136,112,417...136,127,976
Ensembl chr 5:136,112,417...136,127,976
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 5:147,288,700...147,295,191
Ensembl chr 5:147,288,723...147,296,702
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 5:135,394,013...135,397,591
Ensembl chr 5:135,394,016...135,397,591
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 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
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 5:147,068,725...147,099,024
Ensembl chr 5:147,069,616...147,095,242
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 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
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 5:142,666,288...142,681,173
Ensembl chr 5:142,666,289...142,681,173
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C
ClinVar Annotator: match by OMIM:608323
OMIM
ClinVar
PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27027447 PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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 5:138,319,754...138,336,721
Ensembl chr 5:138,319,762...138,336,475
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 5:142,845,265...142,850,110
Ensembl chr 5:142,845,114...142,850,111
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 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
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 5:146,951,195...146,985,450
Ensembl chr 5:146,952,653...146,973,932
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 5:139,856,457...139,871,896 JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,217,841...138,222,534
Ensembl chr 5:138,217,845...138,222,534
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 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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 5:145,106,518...145,123,869
Ensembl chr 5:145,105,997...145,123,861
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 5:144,878,212...144,996,431
Ensembl chr 5:144,878,212...144,996,431
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 5:145,138,667...145,186,285
Ensembl chr 5:145,138,697...145,186,357
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 5:138,470,165...138,505,928
Ensembl chr 5:138,470,069...138,505,556
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 5:146,760,822...146,788,945
Ensembl chr 5:146,762,683...146,787,676
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 5:135,735,825...135,854,525
Ensembl chr 5:135,735,825...135,852,575
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 disease dominant intermediate d
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D
OMIM
ClinVar
PMID:7505151 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10329755 PMID:10406984 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11835375 PMID:12207153 PMID:12402337 PMID:12911457 PMID:12948789 PMID:12953275 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:20456450 PMID:20461396 PMID:23197742 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26392352 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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 disease, dominant intermediate E
ClinVar Annotator: match by OMIM:614455
OMIM
ClinVar
PMID:6054293 PMID:22187985 PMID:25741868 PMID:28492532 PMID:29653220 PMID:30373780 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
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 OMIM
ClinVar
PMID:23434117 PMID:27908631 PMID:28492532 PMID:28642160 NCBI chr 2:118,978,965...119,007,877
Ensembl chr 2:118,978,973...119,007,835
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 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 PMID:21493625 PMID:21840889 PMID:22206013 PMID:22288874 PMID:24887401 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25877835 PMID:26109717 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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 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 PMID:18337100 PMID:18337730 PMID:22094069 PMID:22649220 PMID:23739125 PMID:23893571 PMID:24349310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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 PMID:25741868 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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 PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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 chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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 Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate A
ClinVar Annotator: match by term: RI-CMTA
ClinVar Annotator: match by OMIM:608340
OMIM
ClinVar
PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19500985 PMID:20232219 PMID:21212451 PMID:21322820 PMID:21365284 PMID:21890626 PMID:25231362 PMID:25614874 PMID:25741868 PMID:26467025 PMID:28220846 PMID:28492532 PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate B
ClinVar Annotator: match by OMIM:613641
OMIM
ClinVar
PMID:20920668 PMID:24033266 PMID:28492532 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
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 disease, recessive intermediate c
ClinVar Annotator: match by OMIM:615376
OMIM
ClinVar
PMID:23777631 PMID:23844677 PMID:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate d ClinVar
OMIM
PMID:25152455 PMID:26302975 NCBI chr12:47,024,442...47,027,495
Ensembl chr12:47,024,442...47,027,495
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 chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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 chr10:49,368,183...49,400,284
Ensembl chr10:49,368,314...49,400,193
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:1523566 PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:11835375 PMID:12471219 PMID:12525712 PMID:12609493 PMID:12736090 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20513111 PMID:21149811 PMID:22271166 PMID:22522483 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26204789 PMID:26214589 PMID:26274329 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27549087 PMID:28492532 PMID:30481651 PMID:30843326 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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:28492532 NCBI chr10:50,369,097...50,402,584
Ensembl chr10:50,366,952...50,402,616
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 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G LOC102553110 ral guanine nucleotide dissociation stimulator-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr16:12,173,055...12,177,781
Ensembl chr16:12,174,370...12,176,832
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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 chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:6099985 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 PMID:7530550 PMID:7530774 PMID:7550231 PMID:7688964 PMID:7693129 PMID:7693130 PMID:7694726 PMID:8644725 PMID:8664899 PMID:8797476 PMID:8800924 PMID:8816708 PMID:8835320 PMID:8938258 PMID:9168174 PMID:9187667 PMID:9217235 PMID:9452091 PMID:9452099 PMID:9588852 PMID:9595994 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10093067 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10406984 PMID:10463363 PMID:10533074 PMID:10545037 PMID:10553995 PMID:10581375 PMID:10737979 PMID:10764043 PMID:10923043 PMID:10965800 PMID:11080236 PMID:11080237 PMID:11182278 PMID:11437164 PMID:11438991 PMID:11445635 PMID:11484669 PMID:11545686 PMID:11801400 PMID:11835375 PMID:11935267 PMID:12090401 PMID:12207153 PMID:12207932 PMID:12221176 PMID:12242557 PMID:12402337 PMID:12477701 PMID:12497641 PMID:12707985 PMID:12805115 PMID:12807974 PMID:12845552 PMID:12911457 PMID:12940837 PMID:12948789 PMID:12953275 PMID:14638973 PMID:14711881 PMID:14742601 PMID:15050444 PMID:15094849 PMID:15159512 PMID:15170620 PMID:15241803 PMID:15377707 PMID:15716547 PMID:15729519 PMID:16198109 PMID:16279991 PMID:16488608 PMID:16495463 PMID:16543539 PMID:16616845 PMID:16616847 PMID:16775239 PMID:16844954 PMID:17143884 PMID:17172621 PMID:17294201 PMID:17297707 PMID:17468193 PMID:17602703 PMID:17915947 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18380030 PMID:18422810 PMID:18636082 PMID:18663734 PMID:19259128 PMID:19293842 PMID:19454582 PMID:19475438 PMID:19629567 PMID:19882637 PMID:20215982 PMID:20385006 PMID:20456450 PMID:20461396 PMID:20516806 PMID:20544920 PMID:20571287 PMID:20878767 PMID:20937820 PMID:21107784 PMID:21149811 PMID:21326314 PMID:21363884 PMID:21504504 PMID:21787890 PMID:21840889 PMID:22018721 PMID:22176150 PMID:22222859 PMID:22433810 PMID:22451207 PMID:22622165 PMID:22689911 PMID:22734905 PMID:23197742 PMID:23250879 PMID:23279346 PMID:23290023 PMID:23342407 PMID:23649551 PMID:24028194 PMID:24033266 PMID:24053775 PMID:24444136 PMID:24819634 PMID:24844793 PMID:25025039 PMID:25326637 PMID:25429913 PMID:25448007 PMID:25614874 PMID:25694466 PMID:25720167 PMID:25741868 PMID:26135405 PMID:26234237 PMID:26310628 PMID:26378787 PMID:26392352 PMID:26454100 PMID:26467025 PMID:27025386 PMID:27088055 PMID:27344971 PMID:27353517 PMID:27639257 PMID:27774063 PMID:28286897 PMID:28492532 PMID:29465609 PMID:29670817 PMID:29687021 PMID:30311386 PMID:31173589 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO 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:1523566 PMID:1552943 PMID:1564512 PMID:1677316 PMID:1822787 PMID:3467805 PMID:6313869 PMID:7139106 PMID:7649472 PMID:7728152 PMID:7829101 PMID:8252046 PMID:8275092 PMID:8492918 PMID:8510709 PMID:8894410 PMID:8988161 PMID:8995589 PMID:9004143 PMID:9040737 PMID:9040744 PMID:9055797 PMID:9187667 PMID:9371959 PMID:9425015 PMID:9452053 PMID:9452099 PMID:9543325 PMID:9544841 PMID:9585367 PMID:9678704 PMID:9712007 PMID:9748013 PMID:9852256 PMID:9888385 PMID:10078969 PMID:10211478 PMID:10330345 PMID:10369870 PMID:10399754 PMID:10586280 PMID:10737979 PMID:10915775 PMID:10982389 PMID:11081809 PMID:11314784 PMID:11523566 PMID:11545686 PMID:11835375 PMID:11920834 PMID:12090404 PMID:12207933 PMID:12211648 PMID:12439896 PMID:12796555 PMID:12901701 PMID:14502374 PMID:15099592 PMID:15285778 PMID:15474367 PMID:15537650 PMID:16437560 PMID:18592125 PMID:18698610 PMID:18795802 PMID:19067730 PMID:19259128 PMID:19543269 PMID:19691535 PMID:20301566 PMID:20453308 PMID:20493460 PMID:20739940 PMID:20842290 PMID:21149811 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21337347 PMID:21692910 PMID:21827951 PMID:21840889 PMID:22006697 PMID:22190321 PMID:23224996 PMID:23263778 PMID:23689413 PMID:23781966 PMID:23965407 PMID:24534835 PMID:24646194 PMID:24668782 PMID:24726093 PMID:25385046 PMID:25400662 PMID:25614874 PMID:25741868 PMID:26012543 PMID:26076881 PMID:26102530 PMID:26392352 PMID:26467025 PMID:27609586 PMID:28286897 PMID:28333917 PMID:28374912 PMID:28492532 PMID:28748849 PMID:28981955 PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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:26059842 PMID:28492532 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:20220177 PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
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 chr10:49,472,520...49,506,473
Ensembl chr10:49,472,460...49,506,465
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 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 chr10:49,368,183...49,400,284
Ensembl chr10:49,368,314...49,400,193
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 chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
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 chr10:50,369,097...50,402,584
Ensembl chr10:50,366,952...50,402,616
JBrowse link
G LOC102553110 ral guanine nucleotide dissociation stimulator-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:12,173,055...12,177,781
Ensembl chr16:12,174,370...12,176,832
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A
OMIM
ClinVar
PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 PMID:1552545 PMID:1564512 PMID:1677316 PMID:1721895 PMID:1822787 PMID:6313869 PMID:7649472 PMID:8105684 PMID:8252046 PMID:8492918 PMID:8500795 PMID:8510709 PMID:8988161 PMID:8995589 PMID:9040737 PMID:9371959 PMID:9425015 PMID:9452053 PMID:9452099 PMID:9543325 PMID:9712007 PMID:9852256 PMID:10078969 PMID:10489052 PMID:10586280 PMID:10737979 PMID:11081809 PMID:11545686 PMID:11835375 PMID:12090404 PMID:12211648 PMID:14502374 PMID:15205993 PMID:15537650 PMID:15786462 PMID:16437560 PMID:17796454 PMID:18795802 PMID:19067730 PMID:19259128 PMID:19691535 PMID:20842290 PMID:21149811 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21692910 PMID:21827951 PMID:22006697 PMID:23689413 PMID:23965407 PMID:25385046 PMID:25400662 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:27609586 PMID:28333917 PMID:28492532 PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:49,472,520...49,506,473
Ensembl chr10:49,472,460...49,506,465
JBrowse link
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
ClinVar
OMIM
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 PMID:7550231 PMID:7688964 PMID:7693129 PMID:7693130 PMID:7694726 PMID:8310815 PMID:8644725 PMID:8664899 PMID:8797476 PMID:8800924 PMID:8816708 PMID:8835320 PMID:8938258 PMID:8990016 PMID:9168174 PMID:9187667 PMID:9452091 PMID:9452099 PMID:9595994 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10093067 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10475757 PMID:10553995 PMID:10581375 PMID:10737979 PMID:10764043 PMID:10923043 PMID:10965800 PMID:11080237 PMID:11182278 PMID:11437164 PMID:11438991 PMID:11445635 PMID:11484669 PMID:11545686 PMID:11801400 PMID:11835375 PMID:12090401 PMID:12207153 PMID:12207932 PMID:12221176 PMID:12242557 PMID:12402337 PMID:12477701 PMID:12497641 PMID:12707985 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12940837 PMID:12948789 PMID:12953275 PMID:14711881 PMID:15050444 PMID:15094849 PMID:15159512 PMID:15170620 PMID:15241803 PMID:15377707 PMID:16279991 PMID:16488608 PMID:16495463 PMID:16521307 PMID:16543539 PMID:16775239 PMID:16844954 PMID:17030746 PMID:17143884 PMID:17172621 PMID:17294201 PMID:17602703 PMID:17915947 PMID:18209201 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18422810 PMID:18636082 PMID:19259128 PMID:19293842 PMID:19475438 PMID:19629567 PMID:19882637 PMID:20215982 PMID:20456450 PMID:20461396 PMID:20556410 PMID:20571287 PMID:20937820 PMID:21107784 PMID:21149811 PMID:21787890 PMID:21840889 PMID:22451207 PMID:22689911 PMID:22734905 PMID:23197742 PMID:23250879 PMID:23290023 PMID:23806086 PMID:24053775 PMID:24088041 PMID:24444136 PMID:25429913 PMID:25448007 PMID:25614874 PMID:25694466 PMID:25720167 PMID:25741868 PMID:26135405 PMID:26234237 PMID:26257172 PMID:26310628 PMID:26378787 PMID:26392352 PMID:26454100 PMID:26467025 PMID:27088055 PMID:27353517 PMID:27639257 PMID:28286897 PMID:28492532 PMID:29670817 PMID:29687021 PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b ClinVar PMID:26378787 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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 Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1C
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IC
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:601098
OMIM
ClinVar
PMID:1407588 PMID:1678513 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16118794 PMID:16373087 PMID:16787513 PMID:19541485 PMID:23319192 PMID:23576546 PMID:24604904 PMID:24844793 PMID:24880540 PMID:25058650 PMID:25342198 PMID:25614874 PMID:25741868 PMID:25963657 PMID:26392352 PMID:26467025 PMID:27549087 PMID:28211240 PMID:28492532 PMID:30311386 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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, demyelinating, type 1d
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1D
OMIM
ClinVar
PMID:9537424 PMID:10369870 PMID:10371530 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:12471219 PMID:12525712 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20513111 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26204789 PMID:26467025 PMID:27013732 PMID:27159987 PMID:28492532 PMID:30481651 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
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 Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1E
ClinVar Annotator: match by term: Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness
ClinVar
OMIM
PMID:7139106 PMID:7829101 PMID:10211478 PMID:10330345 PMID:11835375 PMID:11920834 PMID:12578939 PMID:12796555 PMID:15474367 PMID:19067730 PMID:20453308 PMID:23279344 PMID:25400662 PMID:25741868 PMID:26467025 PMID:28374912 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
ClinVar Annotator: match by OMIM:607734
OMIM
ClinVar
PMID:12477167 PMID:12566280 PMID:16930284 PMID:17052987 PMID:19158810 PMID:20039262 PMID:21840889 PMID:24078732 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:26645395 PMID:27206872 PMID:28492532 PMID:28501821 PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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
OMIM
PMID:23806086 PMID:24088041 PMID:26257172 PMID:26828946 PMID:27009151 PMID:30249361 NCBI chr 2:93,827,504...93,831,419
Ensembl chr 2:93,827,504...93,831,419
JBrowse link
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:25025039 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27549087 PMID:28492532 PMID:28493438 PMID:29653220 PMID:30124830 PMID:30311386 PMID:30373780 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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:28492532 NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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 PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18057387 PMID:18585921 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23963299 PMID:24024128 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:26282322 PMID:26467025 PMID:26815532 PMID:27868354 PMID:28492532 PMID:28832565 PMID:29336362 PMID:29482223 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,251,510...43,271,865
Ensembl chr19:43,217,161...43,275,287
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,217,199...43,246,196
Ensembl chr19:43,217,161...43,275,287
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:8872480 PMID:10732809 PMID:12690580 PMID:16014653 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:21737751 PMID:23279345 PMID:24078732 PMID:24088041 PMID:24604904 PMID:24669931 PMID:25058219 PMID:25168514 PMID:25356970 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28492532 PMID:28594869 PMID:28708278 PMID:29648643 PMID:32181591 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:40,855,537...40,905,007
Ensembl chr19:40,855,433...40,904,121
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:28492532 NCBI chr 2:188,051,657...188,080,280
Ensembl chr 2:188,052,236...188,080,301
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 PMID:18334619 PMID:24033266 PMID:24469107 PMID:25025039 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29590070 PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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:28492532 NCBI chr 2:187,911,530...187,914,930
Ensembl chr 2:187,911,533...187,915,596
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 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2270059 PMID:2280636 PMID:2526018 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10980552 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:11901143 PMID:11973618 PMID:12015247 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12783988 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14569138 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15148145 PMID:15184648 PMID:15205219 PMID:15219508 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15832002 PMID:15919811 PMID:15961312 PMID:15965218 PMID:15972724 PMID:15982412 PMID:15998779 PMID:16008174 PMID:16061563 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16478798 PMID:16537768 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16891232 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17469202 PMID:17536044 PMID:17599607 PMID:17612587 PMID:17711925 PMID:17848409 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18035816 PMID:18182166 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18480576 PMID:18502446 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19095983 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19220582 PMID:19318026 PMID:19328042 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19768759 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20092787 PMID:20127487 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20498703 PMID:20576434 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20709679 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21085127 PMID:21151901 PMID:21173262 PMID:21179469 PMID:21315846 PMID:21346069 PMID:21483645 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:21818408 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21922471 PMID:21970986 PMID:21980471 PMID:22071332 PMID:22090424 PMID:22103509 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22491857 PMID:22526018 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23029315 PMID:23062543 PMID:23077635 PMID:23141186 PMID:23142632 PMID:23150259 PMID:23183350 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23360689 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23644458 PMID:23666920 PMID:23701190 PMID:23702046 PMID:23757202 PMID:23783098 PMID:23785128 PMID:23804595 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24169522 PMID:24237251 PMID:24305605 PMID:24349489 PMID:24375749 PMID:24386194 PMID:24503780 PMID:24508248 PMID:24623722 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24806962 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25327215 PMID:25351510 PMID:25367549 PMID:25448463 PMID:25469153 PMID:25524705 PMID:25567453 PMID:25572245 PMID:25617006 PMID:25637381 PMID:25656816 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25886484 PMID:25946677 PMID:25948554 PMID:25982065 PMID:25987458 PMID:25988045 PMID:25996830 PMID:26034236 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26199943 PMID:26323789 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26498160 PMID:26567375 PMID:26573435 PMID:26602028 PMID:26620845 PMID:26662654 PMID:26752647 PMID:26899768 PMID:26900797 PMID:27000522 PMID:27034135 PMID:27066507 PMID:27153395 PMID:27199538 PMID:27220833 PMID:27234031 PMID:27363342 PMID:27373676 PMID:27374873 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27506821 PMID:27532257 PMID:27534416 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27673727 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27876398 PMID:27884249 PMID:27886618 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28125586 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28688748 PMID:28701371 PMID:28785654 PMID:28790152 PMID:28798025 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29047356 PMID:29057633 PMID:29078011 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29211919 PMID:29237675 PMID:29237690 PMID:29250285 PMID:29367541 PMID:29382405 PMID:29432544 PMID:29511324 PMID:29676528 PMID:29693488 PMID:29753763 PMID:29770364 PMID:29791652 PMID:29893365 PMID:29907918 PMID:29943882 PMID:29952368 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30083363 PMID:30123186 PMID:30137533 PMID:30165862 PMID:30311386 PMID:30402260 PMID:30420677 PMID:30488537 PMID:30765282 PMID:30901896 PMID:31296869 PMID:31383942 PMID:31847799 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:25488817 PMID:25527630 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 PMID:30800049 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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:28492532 NCBI chr 2:187,893,678...187,902,546
Ensembl chr 2:187,893,368...187,898,310
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11181170 PMID:12601114 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:19909486 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21601224 PMID:21647385 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:22189565 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22556188 PMID:22653593 PMID:22762946 PMID:22851605 PMID:22926664 PMID:22957060 PMID:23147504 PMID:23456260 PMID:23615052 PMID:23733358 PMID:23806086 PMID:24018473 PMID:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26316991 PMID:26365381 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26752306 PMID:26801520 PMID:26916081 PMID:26930221 PMID:26955893 PMID:26956144 PMID:26968897 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27100445 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30311386 PMID:30882371 PMID:31188717 PMID:32963807 PMID:198122151 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,903,301...187,909,398
Ensembl chr 2:187,903,307...187,909,394
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:188,026,531...188,027,685 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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 chr19:43,392,071...43,429,582
Ensembl chr19:43,392,085...43,429,580
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,772,013...187,786,829
Ensembl chr 2:187,774,062...187,786,731
JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,951,316...187,960,067
Ensembl chr 2:187,951,344...187,960,063
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 chr19:43,273,251...43,324,265
Ensembl chr19:43,274,493...43,290,363
JBrowse link
G Tfg trafficking from ER to golgi regulator ISS
ISO
OMIM:118230 | OMIM:604484
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type
MouseDO
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,915,701...187,931,035
Ensembl chr 2:187,915,751...187,931,035
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 Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A1
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
OMIM
ClinVar
PMID:9409358 PMID:11389829 PMID:25741868 PMID:28492532 PMID:29590070, PMID:11389829 RGD:12738406 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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 Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
ClinVar
CTD
PMID:11181170 PMID:15064763 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17296794 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19889647 PMID:20008656 PMID:20350294 PMID:20587496 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21840889 PMID:22206013 PMID:22442078 PMID:22492563 PMID:24018473 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26306937 PMID:26307494 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27582484 PMID:27863451 PMID:28063088 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:29473246 PMID:30158064 PMID:30311386 PMID:31188717, PMID:22206013 RGD:12738379 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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 Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
OMIM
ClinVar
PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11148244 PMID:11181170 PMID:12601114 PMID:15064763 PMID:15136675 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:21987543 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22851605 PMID:22926664 PMID:23806086 PMID:24018473 PMID:24033266 PMID:24053775 PMID:24088041 PMID:24126688 PMID:24450158 PMID:24473995 PMID:24604904 PMID:24627108 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30311386 PMID:30882371 PMID:31188717 PMID:32963807 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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, autosomal recessive, type 2A2B
ClinVar
OMIM
PMID:11181170 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16835246 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19812251 PMID:20008656 PMID:20350294 PMID:21326314 PMID:21531138 PMID:21715711 PMID:21840889 PMID:22492563 PMID:23806086 PMID:24018473 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24957169 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26382835 PMID:26633545 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:30158064 PMID:30311386 PMID:32214227 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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, axonal, type 2b ClinVar PMID:28492532 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 4:119,572,669...119,626,852 JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:600882
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b
ClinVar
OMIM
PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 PMID:18272684 PMID:18501189 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:23458836 PMID:24344282 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
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 DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar
OMIM
PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11799477 PMID:12032588 PMID:12467734 PMID:12629077 PMID:12649505 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14684700 PMID:14749366 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17347251 PMID:17377071 PMID:17536044 PMID:17711925 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18564364 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21520333 PMID:21632249 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22331516 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25214167 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862 PMID:30311386, PMID:14607793 RGD:1358482 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar
PMID:11112660 PMID:25728773 PMID:25741868 PMID:27066567 PMID:28492532 PMID:30039206 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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 Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
ClinVar Annotator: match by OMIM:601472
OMIM
ClinVar
PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 PMID:16534118 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:19329989 PMID:21737751 PMID:24088041 PMID:24669931 PMID:25168514 PMID:25326637 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD ClinVar
OMIM
PMID:29499166 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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 Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E
ClinVar Annotator: match by OMIM:607684
OMIM
ClinVar
PMID:10841809 PMID:11220745 PMID:12393795 PMID:12477167 PMID:12481988 PMID:12566280 PMID:14733962 PMID:15111691 PMID:16452125 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17620486 PMID:17881652 PMID:19158810 PMID:19286384 PMID:20039262 PMID:21149811 PMID:21168446 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22765307 PMID:23618875 PMID:24078732 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26392352 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:30311386 PMID:30373780 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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:21252112 PMID:21692910 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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 DISEASE, AXONAL, TYPE 2EE
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE
ClinVar
OMIM
PMID:20074988 PMID:22508010 PMID:23714749 PMID:24190800 PMID:25129007 PMID:25741868 PMID:25861990 PMID:26437932 PMID:26741492 PMID:27536553 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
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
ClinVar Annotator: match by OMIM:607677
OMIM
ClinVar
PMID:3467805 PMID:7506095 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:9595994 PMID:10071056 PMID:10214757 PMID:10329755 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11935267 PMID:12207153 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:12953275 PMID:14638973 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15249646 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:20385006 PMID:20461396 PMID:21149811 PMID:22433810 PMID:24053775 PMID:24444136 PMID:25326637 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:27639257 PMID:28286897 PMID:28492532 PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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 2, with hearing loss and pupillary abnormalities
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
ClinVar Annotator: match by OMIM:607736
OMIM
ClinVar
PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:12207153 PMID:12402337 PMID:12911457 PMID:12948789 PMID:12953275 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15326256 PMID:15377707 PMID:16279991 PMID:16775239 PMID:17663472 PMID:18337304 PMID:19629567 PMID:20461396 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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 disease, axonal, type 2R
ClinVar Annotator: match by OMIM:615490
OMIM
ClinVar
PMID:23562820 PMID:23806086 PMID:24088041 PMID:25893792 PMID:26257172 PMID:28492532 NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228
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:25125609 PMID:25878907 PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant
ClinVar Annotator: match by term: Dejerine-Sottas disease
OMIM
ClinVar
PMID:10369870 PMID:10371530 PMID:11523566 PMID:15947997 PMID:16198564 PMID:17717711 PMID:22546699 PMID:25741868 PMID:27013732 PMID:27159987 PMID:28492532 PMID:30843326 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: HMSN Type III
ClinVar PMID:9633821 PMID:10737979 PMID:15241803 PMID:15947997 PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
OMIM
ClinVar
PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 PMID:7693130 PMID:7694726 PMID:8630052 PMID:8816708 PMID:8835320 PMID:9452091 PMID:9888385 PMID:11596785 PMID:11835375 PMID:11935267 PMID:12402337 PMID:16495463 PMID:17143884 PMID:18255032 PMID:20385006 PMID:20461396 PMID:20878767 PMID:20937820 PMID:21363884 PMID:21504504 PMID:22734905 PMID:25326637 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
ClinVar Annotator: match by term: HMSN Type III
ClinVar Annotator: match by term: Dejerine-Sottas disease
OMIM
ClinVar
PMID:1523566 PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 PMID:8422677 PMID:8541860 PMID:8995589 PMID:9004143 PMID:9055797 PMID:9187667 PMID:9425015 PMID:9452053 PMID:9543325 PMID:9544841 PMID:9585367 PMID:9888385 PMID:10078969 PMID:10093067 PMID:10211478 PMID:10369870 PMID:10399754 PMID:10663978 PMID:10982389 PMID:11139264 PMID:11314784 PMID:11523566 PMID:11835375 PMID:12090401 PMID:12439896 PMID:12901701 PMID:15285778 PMID:15474367 PMID:15537650 PMID:15992829 PMID:18592125 PMID:18698610 PMID:18795802 PMID:21670407 PMID:21840889 PMID:23224996 PMID:23781966 PMID:24534835 PMID:24646194 PMID:24668782 PMID:24726093 PMID:25385046 PMID:25741868 PMID:26076881 PMID:26102530 PMID:26392352 PMID:28492532 PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
OMIM
ClinVar
PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16770524 PMID:21079185 PMID:22847150 PMID:25326635 PMID:25628743 PMID:25741868 PMID:26059842 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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 Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:107,695,227...107,723,759
Ensembl chr 7:107,695,215...107,723,772
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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:9781046 PMID:15826937 PMID:16519653 PMID:19074350 PMID:21076407 PMID:21820100 PMID:22368300 PMID:22459677 PMID:22847149 PMID:23603762 PMID:24307404 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26395554 PMID:26795593 PMID:27549087 PMID:28193117 PMID:28263302 PMID:28325891 PMID:28492532 PMID:28554554 PMID:29243232 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO 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 PMID:17564959 PMID:17564972 PMID:19221294 PMID:25741868 PMID:26400421 PMID:26467025 PMID:28492532 PMID:28902413 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G