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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 type 2
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Accession:DOID:0050539 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type II;   Charcot-Marie-Tooth, type 2;   HMSN II;   HMSN type II;   hereditary motor and sensory neuropathy Guadalajara neuronal type;   hereditary motor and sensory neuropathy Okinawa type;   hereditary motor and sensory neuropathy type 2;   hereditary motor and sensory neuropathy type II
 xref: GARD:12431;   ICD9CM:356.0;   ORDO:64746



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Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:6492094 PMID:7842019 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326
JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,677,969...129,682,681
Ensembl chr 1:133,291,027...133,295,265
JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,679,868...130,906,918
Ensembl chr 1:134,286,761...134,468,722
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,682,886...129,708,702
Ensembl chr 1:133,295,437...133,319,167
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:1674639 PMID:5964029 PMID:9536098 PMID:11479539 PMID:11916958 More... NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G C1H1orf167 chromosome 1 C1orf167 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155
JBrowse link
G C1H1orf43 chromosome 1 C1orf43 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,562,110...129,575,866 JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
JBrowse link
G CENPS centromere protein S ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,190,303...9,211,812 JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,554,502...129,562,071
Ensembl chr 1:133,168,973...133,175,964
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361
JBrowse link
G CIROZ ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,707,483...9,725,888
Ensembl chr 1:10,929,614...10,966,254
JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,323,170...130,327,762
Ensembl chr 1:133,932,899...133,937,491
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,607,877...130,618,461
Ensembl chr 1:134,213,237...134,221,288
JBrowse link
G CLSTN1 calsyntenin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,495,571...8,591,613
Ensembl chr 1:9,724,743...9,774,760
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 chr16:54,491,189...54,533,770
Ensembl chr16:70,318,788...70,360,843
JBrowse link
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
JBrowse link
G CORT cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,210,186...9,212,201 JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 Ensembl chr 1:9,846,511...9,882,049 JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,381,851...130,398,975
Ensembl chr 1:133,991,485...134,008,614
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,366,692...130,382,001 JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
JBrowse link
G DDX19A DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr16:54,643,745...54,670,285
Ensembl chr16:70,179,241...70,211,638
JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,221,096...9,232,813
Ensembl chr 1:10,445,553...10,457,547
JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:16199547 PMID:22522442 PMID:25274842 PMID:25741868 PMID:28492532 More... NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,475,128...130,482,531
Ensembl chr 1:134,083,855...134,091,228
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,426,910...130,435,628
Ensembl chr 1:134,036,490...134,045,213
JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,410,991...130,417,593
Ensembl chr 1:134,021,405...134,027,212
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chr  X:143,792,178...143,794,530 JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,592,215...130,600,884
Ensembl chr 1:134,197,555...134,205,476
JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241
JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171
JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 Ensembl chr 1:11,632,768...11,640,846 JBrowse link
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
JBrowse link
G FCSK fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr16:54,534,064...54,559,894
Ensembl chr16:70,294,061...70,318,493
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903
JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,635,614...131,638,610
Ensembl chr 1:135,465,671...135,468,666
JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042
JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631
JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,962,801...131,969,331
Ensembl chr 1:135,785,754...135,792,652
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chr 5:59,566,129...59,569,668
Ensembl chr 5:61,190,585...61,191,037
JBrowse link
G IL34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 Ensembl chr16:70,480,917...70,494,693 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661
JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564
JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,064,860...132,071,722
Ensembl chr 1:135,887,702...135,892,908
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366
JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760
JBrowse link
G KIAA2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,669,585...10,676,372 JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 More... NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18334619 PMID:18726616 More... NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20386726 PMID:25008398 PMID:25741868 PMID:29892902 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,517,075...130,526,621
Ensembl chr 1:134,125,272...134,129,527
JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167
JBrowse link
G LBHD1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,341,395...130,342,409
Ensembl chr 1:133,950,896...133,951,081
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:262236 PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100972613 G patch domain-containing protein 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,938,622...131,945,524
Ensembl chr 1:135,760,273...135,768,573
JBrowse link
G LOC100977130 tropomyosin alpha-3 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
JBrowse link
G LOC100983642 putative uncharacterized protein RUSC1-AS1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,662,834...130,668,707 JBrowse link
G LOC100984626 ATP-dependent RNA helicase DDX19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr16:54,683,291...54,718,133
Ensembl chr16:70,126,833...70,167,548
JBrowse link
G LOC100987557 metaxin-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,553,631...130,558,744 JBrowse link
G LOC100988711 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,079,871...131,084,486 JBrowse link
G LOC134731237 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr11:58,042,970...58,046,697 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,698,579...8,712,867
Ensembl chr 1:9,928,998...9,942,490
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526
JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,806,705...131,844,420
Ensembl chr 1:135,637,801...135,653,866
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,071,430...132,080,297
Ensembl chr 1:135,892,971...135,901,981
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,770,412...10,783,414
Ensembl chr 1:11,986,808...11,999,330
JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097
JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 PMID:33144514 NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,080,651...132,084,541
Ensembl chr 1:135,902,324...135,906,245
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MTSS2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr16:54,331,300...54,338,656
Ensembl chr16:70,497,625...70,514,716
JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:30,766,592...30,794,436 JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,935,295...131,937,843
Ensembl chr 1:135,758,868...135,761,416
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364
JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742
JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,586,557...131,591,263
Ensembl chr 1:135,416,530...135,421,662
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,292,611...130,304,667 JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,556,843...131,583,180 JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483
JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,305,547...130,310,270
Ensembl chr 1:133,912,411...133,920,308
JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732
JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr 3:125,784,604...125,873,051 JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,765,097...8,793,303
Ensembl chr 1:9,995,480...10,015,093
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,710,282...131,728,487
Ensembl chr 1:135,538,519...135,555,803
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,665,390...130,675,635
Ensembl chr 1:134,270,420...134,280,592
JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008
JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,601,017...130,607,373
Ensembl chr 1:134,206,577...134,212,800
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
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 chr16:54,442,510...54,490,950
Ensembl chr16:70,361,068...70,410,042
JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841
JBrowse link
G SLC25A33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,300,384...8,343,270
Ensembl chr 1:9,541,918...9,574,549
JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,535,399...131,556,750
Ensembl chr 1:135,366,049...135,387,643
JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,483,056...130,486,534
Ensembl chr 1:134,092,045...134,095,233
JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,592,368...131,634,443
Ensembl chr 1:135,422,268...135,455,734
JBrowse link
G SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,053,596...8,132,143
Ensembl chr 1:9,349,825...9,363,624
JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,817,765...9,823,244 JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,349,072...131,361,008 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 chr16:54,577,578...54,637,626
Ensembl chr16:70,218,748...70,240,162
JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943
JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193
JBrowse link
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,540,486...130,553,534
Ensembl chr 1:134,148,468...134,160,245
JBrowse link
G TMEM201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,349,271...8,375,601
Ensembl chr 1:9,583,400...9,606,331
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,521,472...130,532,636
Ensembl chr 1:134,129,984...134,142,362
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,679,671...131,709,720
Ensembl chr 1:135,509,160...135,516,912
JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,925,121...131,931,589
Ensembl chr 1:135,747,196...135,754,227
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390
JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:8,801,707...8,949,465
Ensembl chr 1:10,033,084...10,178,759
JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666
JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr11:58,033,304...58,035,893
Ensembl chr11:61,386,797...61,389,404
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143
JBrowse link
G VHLL VHL like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:131,641,713...131,642,132 JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588
JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 1:130,350,798...130,366,690
Ensembl chr 1:133,959,847...133,975,729
JBrowse link
G ZNRF2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 7:30,922,235...31,006,950 JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr 5:143,814,446...143,873,919
Ensembl chr 5:149,834,109...149,881,903
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A OMIM
ClinVar
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name 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 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr22:10,525,738...10,536,788 JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C OMIM
ClinVar
PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:6628444 More... NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM
PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 More... NCBI chr22:10,525,738...10,536,788 JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder OMIM
ClinVar
PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2FF term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF OMIM
ClinVar
PMID:25741868 PMID:33889941 NCBI chr 1:134,522,614...134,552,959
Ensembl chr 1:138,319,952...138,350,307
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH OMIM
ClinVar
PMID:10220506 PMID:11058898 PMID:11139239 PMID:12497640 PMID:19948535 More... NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition OMIM
ClinVar
PMID:9536098 PMID:12368912 PMID:12838516 PMID:16606917 PMID:17576681 More... NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
JBrowse link
G ELOC elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,479,805...70,506,142
Ensembl chr 8:72,121,035...72,151,085
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K OMIM
ClinVar
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 8:70,768,560...70,855,068
Ensembl chr 8:72,413,794...72,505,309
JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372
JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239
JBrowse link
G UBE2W ubiquitin conjugating enzyme E2 W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,315,767...70,413,148 JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N OMIM
ClinVar
PMID:7842019 PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 More... NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N ClinVar PMID:21494555 PMID:28492532 NCBI chr11:58,980,645...59,029,720
Ensembl chr11:62,337,788...62,380,598
JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 Ensembl chr14:105,169,769...105,190,333 JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,587,016...85,627,319 JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352
JBrowse link
G ANKRD9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,122,024...83,128,173 JBrowse link
G ASPG asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589
JBrowse link
G ATP5MJ ATP synthase membrane subunit j ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,538,422...84,547,088
Ensembl chr14:104,347,462...104,355,108
JBrowse link
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,182,879...84,189,180
Ensembl chr14:103,997,524...103,998,927
JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
JBrowse link
G BTBD6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,883,988...85,886,491 JBrowse link
G C15H14orf180 chromosome 15 C14orf180 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,226,995...85,242,300
Ensembl chr14:105,023,477...105,033,370
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989
JBrowse link
G CDCA4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397
JBrowse link
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523
JBrowse link
G CINP cyclin dependent kinase 2 interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,969,659...82,984,299
Ensembl chr14:102,786,775...102,801,135
JBrowse link
G CKB creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CLBA1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O OMIM
ClinVar
PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:17576681 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EIF5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,960,299...83,969,352
Ensembl chr14:103,773,309...103,783,403
JBrowse link
G EXOC3L4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,716,816...83,732,656
Ensembl chr14:103,535,510...103,545,316
JBrowse link
G GPR132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,697,589...85,716,764 JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
JBrowse link
G KIF26A kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,762,903...84,807,440
Ensembl chr14:104,570,327...104,611,245
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230
JBrowse link
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,012,076...84,130,136
Ensembl chr14:103,823,900...103,941,529
JBrowse link
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
JBrowse link
G NUDT14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
JBrowse link
G PLD4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247
JBrowse link
G PPP1R13B protein phosphatase 1 regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,359,917...84,474,892
Ensembl chr14:104,168,873...104,232,974
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:25817843 PMID:28492532 NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978
JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,209,992...83,346,783 JBrowse link
G RD3L RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,565,729...84,567,999
Ensembl chr14:104,373,820...104,375,711
JBrowse link
G SIVA1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
JBrowse link
G TDRD9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,553,807...84,677,904
Ensembl chr14:104,388,558...104,483,552
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G TMEM179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,241,752...85,254,473
Ensembl chr14:105,034,292...105,048,932
JBrowse link
G TNFAIP2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670
JBrowse link
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,151,067...84,167,111
Ensembl chr14:103,966,755...103,974,697
JBrowse link
G WDR20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,759,715...82,843,491
Ensembl chr14:102,577,138...102,660,459
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
JBrowse link
G ZFYVE21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,341,941...84,359,831
Ensembl chr14:104,161,904...104,168,787
JBrowse link
G ZNF839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,939,031...82,962,369
Ensembl chr14:102,762,698...102,779,447
JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P OMIM
ClinVar
PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q OMIM
ClinVar
PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition OMIM
ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name 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 chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition OMIM
ClinVar
PMID:15464186 PMID:16199547 PMID:24033266 PMID:25565308 PMID:25741868 More... NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,187,821...31,201,594 JBrowse link
G APOF apolipoprotein F ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,552,589...32,554,943
Ensembl chr12:32,806,130...32,807,641
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589 NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
JBrowse link
G BAZ2A bromodomain adjacent to zinc finger domain 2A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,274,240...32,313,839
Ensembl chr12:32,529,634...32,566,248
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,316,968...31,322,340
Ensembl chr12:31,577,001...31,579,669
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:31,404,783...31,415,595 JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GLS2 glutaminase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GPR182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806
JBrowse link
G HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,117,696...32,155,740
Ensembl chr12:32,371,489...32,408,860
JBrowse link
G IL23A interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G LOC100995452 nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510
JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,167,057...31,174,930 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,396,733...31,404,126
Ensembl chr12:31,655,461...31,664,638
JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,154,374...31,158,175
Ensembl chr12:31,414,941...31,418,588
JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,459,965...32,465,465
Ensembl chr12:32,713,470...32,718,026
JBrowse link
G MYO1A myosin IA ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,875,570...31,899,279
Ensembl chr12:32,130,708...32,152,335
JBrowse link
G NAB2 NGFI-A binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:32,085,031...32,091,498 JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,686,325...31,692,483
Ensembl chr12:31,940,681...31,944,813
JBrowse link
G NEMP1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,849,235...31,872,130
Ensembl chr12:32,102,141...32,125,141
JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,700,935...31,710,526
Ensembl chr12:31,953,259...31,962,757
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,205,239...31,232,769
Ensembl chr12:31,463,716...31,493,076
JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,581,728...32,598,445
Ensembl chr12:32,835,235...32,853,645
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,323,346...31,335,626
Ensembl chr12:31,584,534...31,594,808
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PRIM1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,155,541...32,176,363
Ensembl chr12:32,408,929...32,428,734
JBrowse link
G PTGES3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,221,908...32,247,228
Ensembl chr12:32,476,835...32,503,181
JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,494,789...31,672,343
Ensembl chr12:31,868,368...31,923,910
JBrowse link
G RBMS2 RNA binding motif single stranded interacting protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,295,878...32,390,287 JBrowse link
G RDH16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,958,385...31,966,319
Ensembl chr12:32,212,746...32,219,624
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,983,412...31,994,584
Ensembl chr12:32,236,402...32,247,688
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
JBrowse link
G SPRYD4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,443,657...32,446,127
Ensembl chr12:32,696,670...32,699,160
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G TAC3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,911,231...31,917,786
Ensembl chr12:32,164,278...32,170,834
JBrowse link
G TIMELESS timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,465,529...32,497,581
Ensembl chr12:32,718,649...32,750,728
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
JBrowse link
G ZBTB39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,921,227...31,928,944
Ensembl chr12:32,176,096...32,178,234
JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z OMIM
ClinVar
PMID:7964809 PMID:9536098 PMID:12601114 PMID:16199547 PMID:17576681 More... NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632
JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGAT2 diacylglycerol O-acyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 ClinVar NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1 ClinVar
OMIM
PMID:9409358 PMID:11389829 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577
JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: HMSN IIA2 ClinVar PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A ClinVar PMID:23141293 PMID:25326637 PMID:25741868 PMID:25860818 PMID:26141459 More... NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A OMIM
ClinVar
PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:15064763 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency OMIM
ClinVar
PMID:8406488 PMID:9409358 PMID:9536098 PMID:12527753 PMID:15064763 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr 3:125,971,881...126,061,778 JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy | ClinVar Annotator: match by term: Peripheral sensory neuropathy, autosomal dominant (PSN) OMIM
ClinVar
PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chr 3:125,784,604...125,873,051 JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy ClinVar NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 OMIM
ClinVar
PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 ClinVar PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 PMID:32324310 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar
PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D OMIM
ClinVar
PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: ATP1A1-related condition | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar
PMID:7977350 PMID:8526465 PMID:8981948 PMID:9536098 PMID:17576681 More... NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDCA2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584
JBrowse link
G DOCK5 dedicator of cytokinesis 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr 8:24,463,582...24,696,736
Ensembl chr 8:21,372,756...21,605,877
JBrowse link
G EBF2 EBF transcription factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr 8:25,119,782...25,325,305
Ensembl chr 8:22,027,573...22,231,421
Ensembl chr 8:22,027,573...22,231,421
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936
JBrowse link
G KCTD9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr 8:24,708,896...24,739,197
Ensembl chr 8:21,618,042...21,648,309
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E OMIM
ClinVar
PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737 PMID:9371959 PMID:9712007 PMID:20301384 PMID:21252112 More... NCBI chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE ClinVar PMID:1852208 PMID:25741868 PMID:28492532 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr2A:27,281,950...27,309,495
Ensembl chr2A:27,370,903...27,397,214
JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition ClinVar PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669
JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I OMIM
ClinVar
PMID:3467805 PMID:7505151 PMID:7506095 PMID:8664899 PMID:8816708 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities OMIM
ClinVar
PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 4:145,494,088...145,681,287
Ensembl chr 4:157,194,729...157,500,723
JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y OMIM
ClinVar
PMID:15034582 PMID:19237541 PMID:21145000 PMID:21984748 PMID:22270372 More... NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w OMIM
ClinVar
PMID:22930593 PMID:24354524 PMID:25741868 PMID:26072516 PMID:26752306 More... NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA ClinVar PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      musculoskeletal system disease 7994
        neuromuscular disease 3186
          Charcot-Marie-Tooth disease 736
            Charcot-Marie-Tooth disease type 2 320
              Charcot-Marie-Tooth Disease Axonal Type 2FF 1
              Charcot-Marie-Tooth Disease Axonal Type 2HH 1
              Charcot-Marie-Tooth Disease Axonal Type 2II 1
              Charcot-Marie-Tooth Disease, Type 2A + 5
              Charcot-Marie-Tooth disease axonal type 2C 3
              Charcot-Marie-Tooth disease axonal type 2CC 1
              Charcot-Marie-Tooth disease axonal type 2F 1
              Charcot-Marie-Tooth disease axonal type 2H 0
              Charcot-Marie-Tooth disease axonal type 2K 8
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 2
              Charcot-Marie-Tooth disease axonal type 2O 48
              Charcot-Marie-Tooth disease axonal type 2P 1
              Charcot-Marie-Tooth disease axonal type 2Q 1
              Charcot-Marie-Tooth disease axonal type 2S 1
              Charcot-Marie-Tooth disease axonal type 2T 2
              Charcot-Marie-Tooth disease axonal type 2U 53
              Charcot-Marie-Tooth disease axonal type 2V 1
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2B 5
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 2
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2DD 1
              Charcot-Marie-Tooth disease type 2E 7
              Charcot-Marie-Tooth disease type 2EE 5
              Charcot-Marie-Tooth disease type 2I 2
              Charcot-Marie-Tooth disease type 2J 1
              Charcot-Marie-Tooth disease type 2R 1
              Charcot-Marie-Tooth disease type 2Y 1
              Charcot-Marie-Tooth disease, axonal type 2W 1
              Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
              autosomal dominant distal hereditary motor neuronopathy 2 4
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        central nervous system disease 12151
          neurodegenerative disease 4905
            Nervous System Heredodegenerative Disorders 3377
              motor peripheral neuropathy 1304
                Charcot-Marie-Tooth disease 736
                  Charcot-Marie-Tooth disease type 2 320
                    Charcot-Marie-Tooth Disease Axonal Type 2FF 1
                    Charcot-Marie-Tooth Disease Axonal Type 2HH 1
                    Charcot-Marie-Tooth Disease Axonal Type 2II 1
                    Charcot-Marie-Tooth Disease, Type 2A + 5
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2H 0
                    Charcot-Marie-Tooth disease axonal type 2K 8
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 2
                    Charcot-Marie-Tooth disease axonal type 2O 48
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2S 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 53
                    Charcot-Marie-Tooth disease axonal type 2V 1
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2B 5
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 2
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 7
                    Charcot-Marie-Tooth disease type 2EE 5
                    Charcot-Marie-Tooth disease type 2I 2
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2R 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
                    autosomal dominant distal hereditary motor neuronopathy 2 4
paths to the root