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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 dominant intermediate C
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Accession:DOID:0110199 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: CMTDIC;   Charcot-Marie-Tooth neuropathy, dominant intermediate C;   DI-CMTC;   autosomal dominant intermediate Charcot-Marie-Tooth disease type C
 primary_id: MESH:C564257
 alt_id: MIM:608323
 xref: ORDO:100045


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Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3galt2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,476,485...11,489,243
Ensembl chrNW_004955452:11,474,472...11,480,849
JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,123,590...14,126,522
Ensembl chrNW_004955452:14,121,837...14,126,664
JBrowse link
G Ago1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,935,028...13,967,281
Ensembl chrNW_004955452:13,934,346...13,968,624
JBrowse link
G Ago3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,977,487...14,108,729
Ensembl chrNW_004955452:13,977,481...14,094,259
JBrowse link
G Ago4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,882,416...13,922,590
Ensembl chrNW_004955452:13,882,416...13,922,590
JBrowse link
G Airim AFG2 interacting ribosome maturation factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,477,253...15,486,400
Ensembl chrNW_004955452:15,478,820...15,486,433
JBrowse link
G Ak2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,254,853...11,275,587 JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,607,980...16,624,376
Ensembl chrNW_004955452:16,607,980...16,624,376
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,715,238...12,729,034
Ensembl chrNW_004955464:12,714,717...12,729,662
JBrowse link
G Armh1 armadillo like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,501,662...13,552,953
Ensembl chrNW_004955464:13,498,362...13,533,888
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,460,176...3,464,335
Ensembl chrNW_004955537:3,460,176...3,464,335
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,501,011...3,504,408
Ensembl chrNW_004955537:3,501,011...3,504,408
JBrowse link
G Azin2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,304,345...11,330,370
Ensembl chrNW_004955452:11,303,499...11,330,555
JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,506,836...3,516,436
Ensembl chrNW_004955537:3,505,596...3,516,436
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,434,429...13,439,108
Ensembl chrNW_004955464:13,434,429...13,439,108
JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,401,388...13,416,924
Ensembl chrNW_004955464:13,408,973...13,416,915
JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,503,530...17,528,049
Ensembl chrNW_004955452:17,503,531...17,528,049
JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,661,440...12,667,388
Ensembl chrNW_004955464:12,662,596...12,665,957
JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,516,502...3,520,559
Ensembl chrNW_004955537:3,517,132...3,520,219
JBrowse link
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,086,971...2,207,825
Ensembl chrNW_004955537:2,135,315...2,207,661
JBrowse link
G Cdc20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,941,265...2,945,158
Ensembl chrNW_004955537:2,941,265...2,945,158
JBrowse link
G Cdca8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,486,515...15,501,838
Ensembl chrNW_004955452:15,486,452...15,499,867
JBrowse link
G Cfap144 cilia and flagella associated protein 144 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955418:29,605,614...29,609,806 JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,799,965...2,861,411
Ensembl chrNW_004955537:2,799,450...2,861,411
JBrowse link
G Cited4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:688,264...689,562
Ensembl chrNW_004955537:688,739...689,290
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,801,073...13,842,387
Ensembl chrNW_004955452:13,802,285...13,833,735
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,127,654...14,149,582
Ensembl chrNW_004955452:14,127,630...14,155,212
JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:139,481...152,866
Ensembl chrNW_004955537:139,481...153,567
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187
JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,695,182...12,274,450
Ensembl chrNW_004955452:11,695,182...12,274,450
JBrowse link
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:773,664...811,084
Ensembl chrNW_004955537:774,002...813,254
JBrowse link
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,579,225...15,580,362
Ensembl chrNW_004955452:15,579,035...15,580,362
JBrowse link
G CUNH1orf210 chromosome unknown C1orf210 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,876,176...2,892,379
Ensembl chrNW_004955537:2,876,176...2,879,380
JBrowse link
G Dlgap3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,981,375...13,039,036
Ensembl chrNW_004955452:12,981,375...13,039,374
JBrowse link
G Dmap1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,984,748...13,993,411
Ensembl chrNW_004955464:13,982,713...13,993,410
JBrowse link
G Dnali1 dynein axonemal light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,367,443...15,375,001
Ensembl chrNW_004955452:15,367,443...15,377,105
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,496,688...3,500,147
Ensembl chrNW_004955537:3,496,688...3,500,147
JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,417,735...13,419,646
Ensembl chrNW_004955464:13,417,859...13,419,635
JBrowse link
G Ebna1bp2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,792,295...2,800,249
Ensembl chrNW_004955537:2,791,502...2,800,249
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,228,062...1,233,784
Ensembl chrNW_004955537:1,228,070...1,233,797
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,254,228...13,378,832
Ensembl chrNW_004955464:13,254,228...13,378,832
JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,945,509...2,950,146
Ensembl chrNW_004955537:2,945,509...2,950,146
JBrowse link
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,510,054...15,547,769 JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,855,581...13,984,598
Ensembl chrNW_004955464:13,855,154...13,984,598
JBrowse link
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,340,282...2,360,925 JBrowse link
G Eva1b eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,296,607...14,298,331
Ensembl chrNW_004955452:14,296,607...14,298,565
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:328,608...334,559
Ensembl chrNW_004955537:328,608...334,559
JBrowse link
G Fhl3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,718,832...15,721,697
Ensembl chrNW_004955452:15,719,455...15,721,677
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,120,823...11,127,010
Ensembl chrNW_004955452:11,120,823...11,126,877
JBrowse link
G Foxj3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,816,431...1,936,380
Ensembl chrNW_004955537:1,816,241...1,936,380
JBrowse link
G Foxo6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,108,711...1,129,287
Ensembl chrNW_004955537:1,109,450...1,128,410
JBrowse link
G Gja4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337
JBrowse link
G Gja9 gap junction protein alpha 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,498,189...16,500,190 JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,871,548...12,874,019
Ensembl chrNW_004955452:12,871,548...12,874,019
JBrowse link
G Gjb5 gap junction protein beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,867,200...12,870,427
Ensembl chrNW_004955452:12,867,200...12,870,427
JBrowse link
G Gnl2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,376,289...15,401,285
Ensembl chrNW_004955452:15,376,289...15,401,974
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,601,373...12,659,687
Ensembl chrNW_004955464:12,632,328...12,658,958
JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,719,072...14,933,613
Ensembl chrNW_004955452:14,725,097...14,933,658
JBrowse link
G Guca2a guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,805,671...1,808,797
Ensembl chrNW_004955537:1,805,671...1,807,662
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,798,249...1,801,673
Ensembl chrNW_004955537:1,798,249...1,801,673
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,230,534...13,238,953
Ensembl chrNW_004955464:13,230,534...13,238,953
JBrowse link
G Heyl hes related family bHLH transcription factor with YRPW motif like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,137,066...17,152,714
Ensembl chrNW_004955452:17,134,770...17,152,924
JBrowse link
G Hivep3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,255,284...1,589,514
Ensembl chrNW_004955537:1,255,257...1,339,626
JBrowse link
G Hmgb4 high mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,013,304...12,014,058
Ensembl chrNW_004955452:12,013,456...12,014,041
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,142,282...11,150,798
Ensembl chrNW_004955452:11,140,373...11,154,261
JBrowse link
G Hpcal4 hippocalcin like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,193,505...17,205,174
Ensembl chrNW_004955452:17,193,242...17,205,603
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,936,996...12,940,050 JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
JBrowse link
G Hyi hydroxypyruvate isomerase (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,017,860...3,020,642
Ensembl chrNW_004955537:3,017,940...3,020,513
JBrowse link
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,628,852...15,682,514
Ensembl chrNW_004955452:15,629,724...15,681,754
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,472,866...3,494,552
Ensembl chrNW_004955537:3,472,866...3,494,552
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,562,824...12,589,976
Ensembl chrNW_004955464:12,562,756...12,589,939
JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:624,217...671,407
Ensembl chrNW_004955537:624,217...674,330
JBrowse link
G Kdm4a lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,199,394...3,255,945
Ensembl chrNW_004955537:3,199,394...3,255,945
JBrowse link
G Kiaa0319l KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,538,524...13,649,823
Ensembl chrNW_004955452:13,507,010...13,646,751
JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,453,637...13,475,447
Ensembl chrNW_004955464:13,453,217...13,475,322
JBrowse link
G Klf17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,637,825...3,648,078 JBrowse link
G LOC102010861 chromosome unknown open reading frame, human C1orf94 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,288,967...12,325,948
Ensembl chrNW_004955452:12,289,791...12,327,018
JBrowse link
G LOC102015143 chromosome unknown open reading frame, human C1orf50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,292,430...2,301,938
Ensembl chrNW_004955537:2,292,519...2,301,977
JBrowse link
G LOC102022042 chromosome unknown open reading frame, human C1orf216 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,784,336...13,789,377
Ensembl chrNW_004955452:13,784,336...13,789,377
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,354,020...14,358,867
Ensembl chrNW_004955452:14,354,026...14,358,267
JBrowse link
G Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732
JBrowse link
G Maneal mannosidase endo-alpha like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,569,603...15,574,744 JBrowse link
G Map7d1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,179,841...14,204,397
Ensembl chrNW_004955452:14,179,841...14,205,320
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,264,252...12,459,061
Ensembl chrNW_004955464:12,264,252...12,459,124
JBrowse link
G Meaf6 MYST/Esa1 associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,325,227...15,347,175
Ensembl chrNW_004955452:15,325,227...15,347,175
JBrowse link
G Med8 mediator complex subunit 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,963,779...2,968,827
Ensembl chrNW_004955537:2,963,779...2,968,827
JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,430,850...17,443,830
Ensembl chrNW_004955452:17,430,219...17,443,830
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,922,156...2,937,223
Ensembl chrNW_004955537:2,922,156...2,937,223
JBrowse link
G Mrps15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,402,607...14,408,899
Ensembl chrNW_004955452:14,402,625...14,408,793
JBrowse link
G Mtf1 metal regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,580,460...15,627,844
Ensembl chrNW_004955452:15,580,460...15,627,844
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,927,669...12,936,894
Ensembl chrNW_004955464:12,933,497...12,938,468
JBrowse link
G Mycbp MYC binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,490,066...16,496,989 JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,390,285...17,397,115
Ensembl chrNW_004955452:17,389,796...17,397,309
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,667,050...12,697,021
Ensembl chrNW_004955464:12,667,050...12,697,769
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,650,016...13,659,382
Ensembl chrNW_004955452:13,649,539...13,659,436
JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,634,537...16,641,344
Ensembl chrNW_004955452:16,634,537...16,641,344
JBrowse link
G Nfyc nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:544,534...611,459
Ensembl chrNW_004955537:559,261...613,369
JBrowse link
G Nt5c1a 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,172,217...17,188,597
Ensembl chrNW_004955452:17,172,217...17,188,756
JBrowse link
G Oscp1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,366,242...14,398,181
Ensembl chrNW_004955452:14,366,242...14,398,181
JBrowse link
G Oxct2 3-oxoacid CoA-transferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,267,971...17,270,072 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,276,080...2,292,303
Ensembl chrNW_004955537:2,275,599...2,292,303
JBrowse link
G Pabpc4 poly(A) binding protein cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,083,679...17,101,436
Ensembl chrNW_004955452:17,084,805...17,101,026
JBrowse link
G Phc2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,490,336...11,538,618
Ensembl chrNW_004955452:11,491,573...11,538,618
JBrowse link
G Plk3 polo like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,419,562...13,424,104
Ensembl chrNW_004955464:13,419,562...13,424,104
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,080,865...2,084,199
Ensembl chrNW_004955537:2,080,865...2,085,003
JBrowse link
G Ppie peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,242,255...17,256,776
Ensembl chrNW_004955452:17,242,286...17,254,860
JBrowse link
G Ppih peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,211,566...2,229,444
Ensembl chrNW_004955537:2,211,410...2,230,452
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
JBrowse link
G Psmb2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,688,218...13,725,318
Ensembl chrNW_004955452:13,685,548...13,725,360
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,387,844...13,403,991
Ensembl chrNW_004955464:13,387,844...13,403,991
JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,096,601...3,185,682
Ensembl chrNW_004955537:3,096,603...3,185,682
JBrowse link
G Rhbdl2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,506,830...16,553,594
Ensembl chrNW_004955452:16,506,830...16,553,710
JBrowse link
G Rimkla ribosomal modification protein rimK like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:1,992,660...2,024,331
Ensembl chrNW_004955537:1,992,670...2,021,340
JBrowse link
G Rims3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:483,717...522,053
Ensembl chrNW_004955537:489,392...522,299
JBrowse link
G Rlf RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,588,066...17,687,553
Ensembl chrNW_004955452:17,587,952...17,687,616
JBrowse link
G Rnf19b ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,179,268...11,190,594
Ensembl chrNW_004955452:11,179,603...11,190,593
JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,579,828...13,795,266
Ensembl chrNW_004955464:13,580,742...13,801,837
JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,443,580...13,445,391
Ensembl chrNW_004955464:13,443,631...13,445,389
JBrowse link
G Rragc Ras related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:16,469,426...16,486,336
Ensembl chrNW_004955452:16,466,453...16,486,336
JBrowse link
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955452:11,078,170...11,114,061
Ensembl chrNW_004955452:11,082,731...11,113,934
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:819,209...971,297
Ensembl chrNW_004955537:824,828...937,324
JBrowse link
G Sf3a3 splicing factor 3a subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,691,729...15,715,782
Ensembl chrNW_004955452:15,691,497...15,716,524
JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,267,968...13,283,823 JBrowse link
G Sh3d21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,283,194...14,295,863
Ensembl chrNW_004955452:14,283,209...14,295,841
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,520,516...3,549,492
Ensembl chrNW_004955537:3,520,516...3,550,022
JBrowse link
G Slfnl1 schlafen like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:814,859...819,238
Ensembl chrNW_004955537:814,852...819,346
JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:203,252...249,694
Ensembl chrNW_004955537:203,668...250,373
JBrowse link
G Smim12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:12,972,797...12,976,963
Ensembl chrNW_004955452:12,972,797...12,976,962
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,352,080...15,365,545
Ensembl chrNW_004955452:15,353,182...15,365,459
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
JBrowse link
G Stk40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,298,759...14,345,293
Ensembl chrNW_004955452:14,301,533...14,345,988
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,333,657...2,337,012
Ensembl chrNW_004955537:2,333,657...2,337,037
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,117,043...14,120,800
Ensembl chrNW_004955452:14,117,548...14,126,664
JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,789,493...12,924,077
Ensembl chrNW_004955464:12,815,226...12,924,930
JBrowse link
G Tfap2e transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,666,712...13,682,063
Ensembl chrNW_004955452:13,666,712...13,682,063
JBrowse link
G Thrap3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,233,155...14,282,521
Ensembl chrNW_004955452:14,233,155...14,283,886
JBrowse link
G Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,894,913...2,914,284
Ensembl chrNW_004955537:2,894,914...2,914,284
JBrowse link
G Tmco2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,693,621...17,696,864
Ensembl chrNW_004955452:17,693,269...17,698,418
JBrowse link
G Tmem125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,865,166...2,868,281
Ensembl chrNW_004955537:2,865,166...2,868,281
JBrowse link
G Tmem35b transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,087,976...13,091,467
Ensembl chrNW_004955452:13,086,500...13,091,751
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,552,963...13,577,528
Ensembl chrNW_004955464:13,552,922...13,577,528
JBrowse link
G Tmem54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,150,749...11,156,402
Ensembl chrNW_004955452:11,150,971...11,154,893
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,594,544...12,602,137
Ensembl chrNW_004955464:12,594,788...12,597,711
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,924,185...12,927,567
Ensembl chrNW_004955464:12,924,191...12,927,567
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:14,160,612...14,172,896
Ensembl chrNW_004955452:14,160,612...14,172,895
JBrowse link
G Trim62 tripartite motif containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,348,001...11,377,413
Ensembl chrNW_004955452:11,347,741...11,378,040
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:17,330,446...17,378,579
Ensembl chrNW_004955452:17,330,446...17,378,579
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Utp11 UTP11 small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,733,479...15,743,545
Ensembl chrNW_004955452:15,733,018...15,743,678
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C OMIM
ClinVar
PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
JBrowse link
G Ybx1 Y-box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,234,052...2,254,528
Ensembl chrNW_004955537:2,234,054...2,251,708
JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,575,421...15,579,186
Ensembl chrNW_004955452:15,575,421...15,579,186
JBrowse link
G Zc3h12a zinc finger CCCH-type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:15,306,398...15,314,959
Ensembl chrNW_004955452:15,305,775...15,314,959
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609
JBrowse link
G Zmym1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,196,280...13,228,283
Ensembl chrNW_004955452:13,196,007...13,230,202
JBrowse link
G Zmym4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,354,342...13,513,160
Ensembl chrNW_004955452:13,354,850...13,514,067
JBrowse link
G Zmym6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:13,093,645...13,130,433
Ensembl chrNW_004955452:13,093,796...13,129,195
JBrowse link
G Zmynd12 zinc finger MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,021,347...2,087,527
Ensembl chrNW_004955537:2,035,644...2,080,589
JBrowse link
G Znf362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,449,950...11,472,777
Ensembl chrNW_004955452:11,450,057...11,472,940
JBrowse link
G Znf684 zinc finger protein 684 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:416,010...430,356 JBrowse link
G Znf691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955537:2,363,854...2,401,589
Ensembl chrNW_004955537:2,363,854...2,371,772
JBrowse link
G Zscan20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955452:11,641,089...11,662,453
Ensembl chrNW_004955452:11,648,123...11,662,027
JBrowse link
G Zswim5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004955464:13,049,717...13,226,274
Ensembl chrNW_004955464:13,049,706...13,223,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      musculoskeletal system disease 7418
        neuromuscular disease 2996
          Charcot-Marie-Tooth disease 693
            Charcot-Marie-Tooth disease intermediate type 246
              Charcot-Marie-Tooth disease dominant intermediate C 173
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        central nervous system disease 11072
          neurodegenerative disease 4562
            Nervous System Heredodegenerative Disorders 3118
              motor peripheral neuropathy 1236
                Charcot-Marie-Tooth disease 693
                  Charcot-Marie-Tooth disease intermediate type 246
                    Charcot-Marie-Tooth disease dominant intermediate C 173
paths to the root