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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: OMIM: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_004936474:16,135,076...16,138,930
Ensembl chrNW_004936474:16,135,644...16,145,518
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_004936474:18,580,615...18,586,325
Ensembl chrNW_004936474:18,580,615...18,586,307
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_004936474:18,335,536...18,371,398
Ensembl chrNW_004936474:18,335,531...18,370,077
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_004936474:19,886,408...19,895,470
Ensembl chrNW_004936474:19,886,374...19,895,521
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_004936474:15,887,014...15,908,522 JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:20,975,401...20,992,184
Ensembl chrNW_004936474:20,975,350...20,992,518
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_004936474:26,680,736...26,696,996
Ensembl chrNW_004936474:26,680,676...26,697,214
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_004936474:25,929,785...25,961,594
Ensembl chrNW_004936474:25,928,532...25,961,812
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:25,252,510...25,254,221
Ensembl chrNW_004936474:25,252,684...25,253,810
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_004936474:25,294,179...25,297,727
Ensembl chrNW_004936474:25,293,938...25,297,775
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_004936474:15,941,655...15,973,481
Ensembl chrNW_004936474:15,941,620...15,973,745
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_004936474:25,298,806...25,308,369
Ensembl chrNW_004936474:25,298,806...25,308,900
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:26,012,887...26,016,511
Ensembl chrNW_004936474:26,012,887...26,016,511
JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532
G Bmp8b bone morphogenetic protein 8b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:21,620,425...21,646,190 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_004936474:26,034,806...26,041,430
Ensembl chrNW_004936474:26,034,758...26,042,680
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_004936474:21,854,454...21,881,622
Ensembl chrNW_004936474:21,854,330...21,881,622
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_004936474:26,744,393...26,748,173
Ensembl chrNW_004936474:26,744,603...26,748,165
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_004936474:25,308,459...25,313,073
Ensembl chrNW_004936474:25,309,054...25,312,215
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_004936474:23,922,796...24,002,316 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_004936474:24,760,258...24,765,069
Ensembl chrNW_004936474:24,760,298...24,767,725
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_004936474:19,895,681...19,912,451
Ensembl chrNW_004936474:19,895,640...19,912,933
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_004936474:24,595,224...24,647,896
Ensembl chrNW_004936474:24,596,152...24,647,896
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_004936474:22,514,800...22,516,166 JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:24,067,009...24,070,838
Ensembl chrNW_004936474:24,064,730...24,070,865
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:18,267,740...18,304,658
Ensembl chrNW_004936474:18,268,984...18,300,211
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_004936474:18,587,451...18,602,446
Ensembl chrNW_004936474:18,589,363...18,602,583
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_004936474:22,081,672...22,095,997
Ensembl chrNW_004936474:22,081,858...22,095,921
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_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530
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_004936474:16,323,899...16,607,712
Ensembl chrNW_004936474:16,326,666...16,866,720
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_004936474:22,611,037...22,633,208
Ensembl chrNW_004936474:22,602,800...22,633,169
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_004936474:19,979,705...19,981,362
Ensembl chrNW_004936474:19,979,710...19,981,366
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_004936474:24,685,408...24,686,502
Ensembl chrNW_004936474:24,685,397...24,686,559
JBrowse link
G CUNH1orf216 chromosome unknown C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:18,248,862...18,253,844
Ensembl chrNW_004936474:18,248,854...18,254,197
JBrowse link
G CUNH1orf50 chromosome unknown C1orf50 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:24,093,572...24,108,915
Ensembl chrNW_004936474:24,093,600...24,104,303
JBrowse link
G CUNH1orf94 chromosome unknown C1orf94 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:16,883,218...16,919,379
Ensembl chrNW_004936474:16,901,246...16,919,194
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_004936474:17,496,203...17,535,885
Ensembl chrNW_004936474:17,493,125...17,535,885
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_004936474:25,486,447...25,495,909
Ensembl chrNW_004936474:25,486,462...25,495,992
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_004936474:19,779,731...19,787,860
Ensembl chrNW_004936474:19,779,671...19,787,093
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_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382
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_004936474:26,032,109...26,032,777
Ensembl chrNW_004936474:26,032,109...26,032,777
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_004936474:24,583,494...24,595,094
Ensembl chrNW_004936474:24,581,611...24,589,672
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:23,061,219...23,064,525
Ensembl chrNW_004936474:23,060,905...23,064,566
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_004936474:26,075,503...26,187,459
Ensembl chrNW_004936474:26,075,204...26,187,459
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_004936474:24,765,173...24,769,903
Ensembl chrNW_004936474:24,764,718...24,769,947
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_004936474:19,916,666...19,935,958 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_004936474:25,496,344...25,629,107
Ensembl chrNW_004936474:25,492,021...25,629,125
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_004936474:24,149,628...24,161,492
Ensembl chrNW_004936474:24,149,583...24,161,463
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_004936474:18,763,538...18,765,084
Ensembl chrNW_004936474:18,763,242...18,765,217
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:22,244,459...22,249,472
Ensembl chrNW_004936474:22,244,459...22,249,435
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_004936474:20,119,775...20,125,783
Ensembl chrNW_004936474:20,119,754...20,122,800
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_004936474:15,765,169...15,776,452
Ensembl chrNW_004936474:15,768,518...15,783,999
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_004936474:23,654,925...23,764,965
Ensembl chrNW_004936474:23,652,398...23,764,969
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_004936474:22,943,231...22,964,208
Ensembl chrNW_004936474:22,943,385...22,963,288
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_004936474:17,439,250...17,440,829
Ensembl chrNW_004936474:17,439,327...17,440,331
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_004936474:20,866,678...20,871,540
Ensembl chrNW_004936474:20,867,307...20,868,848
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_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729
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_004936474:17,407,209...17,409,657
Ensembl chrNW_004936474:17,408,623...17,409,423
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_004936474:17,402,804...17,406,080
Ensembl chrNW_004936474:17,405,000...17,405,809
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_004936474:19,788,790...19,813,423
Ensembl chrNW_004936474:19,787,904...19,813,458
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_004936474:26,750,548...26,774,215
Ensembl chrNW_004936474:26,751,301...26,774,180
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_004936474:19,151,896...19,363,497
Ensembl chrNW_004936474:19,156,172...19,363,542
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_004936474:23,640,589...23,642,573
Ensembl chrNW_004936474:23,640,586...23,642,599
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_004936474:23,632,836...23,634,330
Ensembl chrNW_004936474:23,632,781...23,634,496
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_004936474:26,198,637...26,206,600
Ensembl chrNW_004936474:26,198,194...26,206,330
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_004936474:21,503,763...21,513,392
Ensembl chrNW_004936474:21,505,149...21,510,624
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_004936474:23,089,285...23,238,297
Ensembl chrNW_004936474:23,085,813...23,238,305
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_004936474:16,629,225...16,629,803 JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:15,786,171...15,794,830
Ensembl chrNW_004936474:15,785,879...15,798,740
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_004936474:21,561,544...21,568,230
Ensembl chrNW_004936474:21,561,518...21,568,291
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_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998
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_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186
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_004936474:24,837,466...24,841,147
Ensembl chrNW_004936474:24,837,554...24,839,782
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_004936474:20,028,575...20,083,931
Ensembl chrNW_004936474:20,028,585...20,083,906
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:25,263,772...25,285,434
Ensembl chrNW_004936474:25,263,684...25,285,698
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_004936474:26,802,467...26,834,449
Ensembl chrNW_004936474:26,801,546...26,835,116
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_004936474:22,444,359...22,496,097
Ensembl chrNW_004936474:22,444,358...22,496,105
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_004936474:25,002,527...25,056,642
Ensembl chrNW_004936474:25,002,509...25,056,642
JBrowse link
G Kiaa0319l KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:18,002,864...18,110,000
Ensembl chrNW_004936474:18,003,930...18,106,273
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_004936474:25,967,095...26,000,678
Ensembl chrNW_004936474:25,978,707...26,000,140
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_004936474:25,413,907...25,422,643 JBrowse link
G LOC101970296 RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:21,943,329...22,014,738 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_004936474:18,822,317...18,825,158
Ensembl chrNW_004936474:18,822,327...18,825,114
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_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147
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_004936474:19,971,351...19,975,294
Ensembl chrNW_004936474:19,969,868...19,974,204
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_004936474:18,641,915...18,666,953
Ensembl chrNW_004936474:18,641,915...18,667,967
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_004936474:26,905,217...27,090,886
Ensembl chrNW_004936474:26,905,083...27,091,333
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_004936474:19,732,278...19,754,228
Ensembl chrNW_004936474:19,729,465...19,754,261
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_004936474:24,782,751...24,788,066
Ensembl chrNW_004936474:24,781,206...24,788,101
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_004936474:21,790,807...21,803,336
Ensembl chrNW_004936474:21,790,747...21,803,360
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_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486
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_004936474:24,744,673...24,757,189
Ensembl chrNW_004936474:24,744,673...24,757,085
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_004936474:18,867,966...18,875,314
Ensembl chrNW_004936474:18,867,953...18,875,408
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_004936474:19,981,483...20,027,541
Ensembl chrNW_004936474:19,981,466...20,027,536
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_004936474:26,484,316...26,492,652
Ensembl chrNW_004936474:26,481,211...26,493,019
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_004936474:20,837,757...20,871,444
Ensembl chrNW_004936474:20,856,732...20,866,184
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_004936474:21,751,204...21,757,797
Ensembl chrNW_004936474:21,750,847...21,757,797
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_004936474:26,710,364...26,743,336
Ensembl chrNW_004936474:26,710,229...26,743,254
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:18,110,143...18,119,347
Ensembl chrNW_004936474:18,110,113...18,119,341
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_004936474:21,004,476...21,012,742
Ensembl chrNW_004936474:21,004,036...21,012,767
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_004936474:22,368,279...22,432,671
Ensembl chrNW_004936474:22,369,313...22,433,166
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_004936474:21,535,197...21,542,417
Ensembl chrNW_004936474:21,535,467...21,542,588
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_004936474:18,832,866...18,864,540
Ensembl chrNW_004936474:18,830,650...18,864,713
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_004936474:24,077,270...24,093,399
Ensembl chrNW_004936474:24,075,312...24,093,399
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_004936474:21,453,244...21,468,059
Ensembl chrNW_004936474:21,452,005...21,468,065
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_004936474:16,147,699...16,252,073
Ensembl chrNW_004936474:16,145,496...16,236,854
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:27,095,125...27,171,416
Ensembl chrNW_004936474:27,095,100...27,171,252
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_004936474:26,026,878...26,032,098
Ensembl chrNW_004936474:26,026,842...26,032,218
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_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:23,867,117...23,870,832
Ensembl chrNW_004936474:23,867,347...23,871,223
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_004936474:21,602,555...21,616,857
Ensembl chrNW_004936474:21,602,521...21,619,655
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_004936474:24,003,963...24,024,885
Ensembl chrNW_004936474:24,003,827...24,024,922
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_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:26,641,776...26,653,291
Ensembl chrNW_004936474:26,639,259...26,653,328
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_004936474:18,151,717...18,183,384
Ensembl chrNW_004936474:18,151,490...18,183,440
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
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_004936474:24,908,103...24,984,678
Ensembl chrNW_004936474:24,908,120...24,983,330
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_004936474:20,873,105...20,896,306
Ensembl chrNW_004936474:20,872,532...20,896,319
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_004936474:23,800,632...23,827,184
Ensembl chrNW_004936474:23,800,642...23,824,145
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_004936474:22,311,946...22,353,017
Ensembl chrNW_004936474:22,317,461...22,353,082
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_004936474:15,827,800...15,850,405
Ensembl chrNW_004936474:15,827,303...15,849,632
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_004936474:25,678,672...25,894,337
Ensembl chrNW_004936474:25,678,667...25,897,665
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_004936474:26,006,226...26,008,824
Ensembl chrNW_004936474:26,006,217...26,009,505
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
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726
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:28492532 NCBI chrNW_004936474:15,721,520...15,763,443
Ensembl chrNW_004936474:15,721,461...15,763,903
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_004936474:22,648,156...22,784,399
Ensembl chrNW_004936474:22,647,334...22,774,405
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_004936474:20,092,159...20,116,612
Ensembl chrNW_004936474:20,091,359...20,116,746
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_004936474:17,776,490...17,791,966 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_004936474:18,751,357...18,762,824 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_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713
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_004936474:25,312,544...25,344,993
Ensembl chrNW_004936474:25,313,201...25,345,053
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_004936474:22,632,908...22,641,182
Ensembl chrNW_004936474:22,636,704...22,640,264
JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:22,126,831...22,175,274
Ensembl chrNW_004936474:22,126,794...22,175,303
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_004936474:17,486,883...17,491,222
Ensembl chrNW_004936474:17,486,894...17,487,982
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_004936474:19,760,653...19,778,224
Ensembl chrNW_004936474:19,760,766...19,778,265
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_004936474:25,058,892...25,248,378
Ensembl chrNW_004936474:25,058,892...25,248,378
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_004936474:18,771,434...18,816,086
Ensembl chrNW_004936474:18,771,358...18,816,098
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_004936474:24,128,633...24,135,231
Ensembl chrNW_004936474:24,126,278...24,135,237
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_004936474:24,788,175...24,837,471
Ensembl chrNW_004936474:24,788,195...24,837,395
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:18,576,133...18,579,926
Ensembl chrNW_004936474:18,576,354...18,579,844
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_004936474:26,496,735...26,628,452
Ensembl chrNW_004936474:26,495,367...26,604,502
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_004936474:18,129,613...18,145,334
Ensembl chrNW_004936474:18,128,731...18,144,434
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_004936474:18,691,872...18,749,217
Ensembl chrNW_004936474:18,691,835...18,749,235
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_004936474:24,709,424...24,729,246
Ensembl chrNW_004936474:24,709,424...24,729,245
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_004936474:22,020,546...22,024,188
Ensembl chrNW_004936474:22,020,805...22,024,188
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_004936474:24,672,943...24,676,211
Ensembl chrNW_004936474:24,674,936...24,675,592
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_004936474:17,559,041...17,597,851
Ensembl chrNW_004936474:17,595,001...17,597,765
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_004936474:25,897,032...25,914,873
Ensembl chrNW_004936474:25,896,980...25,914,963
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_004936474:15,794,778...15,800,604
Ensembl chrNW_004936474:15,795,017...15,801,133
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_004936474:26,793,410...26,799,451
Ensembl chrNW_004936474:26,795,499...26,801,242
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_004936474:26,492,656...26,496,722
Ensembl chrNW_004936474:26,492,450...26,496,132
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_004936474:18,622,302...18,635,216
Ensembl chrNW_004936474:18,621,057...18,635,272
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_004936474:15,998,996...16,029,555
Ensembl chrNW_004936474:15,998,973...16,029,599
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_004936474:21,689,411...21,739,770
Ensembl chrNW_004936474:21,689,363...21,739,857
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:26,207,169...26,210,599
Ensembl chrNW_004936474:26,207,169...26,210,623
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_004936474:20,132,300...20,143,814
Ensembl chrNW_004936474:20,132,253...20,143,981
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_004936474:15,691,838...15,721,308
Ensembl chrNW_004936474:15,691,842...15,721,953
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_004936474:24,026,459...24,047,724
Ensembl chrNW_004936474:24,026,377...24,047,724
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_004936474:19,975,781...19,980,103
Ensembl chrNW_004936474:19,975,849...19,980,096
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_004936474:19,714,145...19,722,512
Ensembl chrNW_004936474:19,714,153...19,722,528
JBrowse link
G Zfp69 ZFP69 zinc finger protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 Ensembl chrNW_004936474:22,223,930...22,237,584 JBrowse link
G Zfp69b ZFP69 zinc finger protein B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chrNW_004936474:22,198,176...22,210,448
Ensembl chrNW_004936474:22,198,418...22,210,023
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_004936474:22,035,059...22,077,846
Ensembl chrNW_004936474:22,034,801...22,077,986
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_004936474:17,687,529...17,712,953
Ensembl chrNW_004936474:17,687,458...17,713,047
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_004936474:17,849,546...17,996,914
Ensembl chrNW_004936474:17,849,716...17,995,224
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_004936474:17,599,493...17,637,646
Ensembl chrNW_004936474:17,599,357...17,636,846
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_004936474:23,839,713...23,867,222
Ensembl chrNW_004936474:23,838,327...23,866,964
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_004936474:16,106,820...16,131,889
Ensembl chrNW_004936474:16,107,640...16,133,004
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_004936474:24,164,817...24,173,016
Ensembl chrNW_004936474:24,164,849...24,172,991
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_004936474:16,288,205...16,308,121
Ensembl chrNW_004936474:16,295,643...16,308,125
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_004936474:26,213,415...26,389,985
Ensembl chrNW_004936474:26,211,291...26,389,991
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        neuromuscular disease 2898
          Charcot-Marie-Tooth disease 632
            Charcot-Marie-Tooth disease intermediate type 246
              Charcot-Marie-Tooth disease dominant intermediate C 173
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          neurodegenerative disease 4477
            Nervous System Heredodegenerative Disorders 3071
              motor peripheral neuropathy 1166
                Charcot-Marie-Tooth disease 632
                  Charcot-Marie-Tooth disease intermediate type 246
                    Charcot-Marie-Tooth disease dominant intermediate C 173
paths to the root