Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 5:146,933,592...146,945,882
Ensembl chr 5:146,933,592...146,945,880
JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,336,312...144,341,586
Ensembl chr 5:144,336,312...144,341,586
JBrowse link
G Ago1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,444,390...144,479,430
Ensembl chr 5:144,448,792...144,479,306
JBrowse link
G Ago3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,355,792...144,436,509
Ensembl chr 5:144,364,269...144,436,509
JBrowse link
G Ago4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,501,875...144,557,165
Ensembl chr 5:144,504,938...144,556,889
JBrowse link
G Ak2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,415,226...141,430,627
Ensembl chr 5:141,415,075...141,430,659
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,482,068...135,498,693
Ensembl chr 5:135,482,068...135,498,822
JBrowse link
G Armh1 armadillo-like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,073,056...136,112,344
Ensembl chr 5:136,073,056...136,112,344
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,718,352...136,719,868
Ensembl chr 5:136,718,352...136,721,379
JBrowse link
G Azin2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,120,128...147,148,576
Ensembl chr 5:147,120,129...147,148,291
JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,707,510...136,717,345
Ensembl chr 5:136,707,510...136,715,981
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,013,978...136,017,742
Ensembl chr 5:136,014,017...136,017,677
JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,007,462...141,033,511
Ensembl chr 5:141,007,462...141,033,511
JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,988,549...135,994,985
Ensembl chr 5:135,987,573...135,994,848
JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,559,195...140,585,494
Ensembl chr 5:140,559,206...140,585,408
JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,440,276...135,445,794
Ensembl chr 5:135,442,031...135,445,791
JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,691,655...136,707,197
Ensembl chr 5:136,703,674...136,706,998
JBrowse link
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,364,211...138,462,922
Ensembl chr 5:138,364,167...138,462,864
JBrowse link
G Cdc20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,260,728...137,264,931
Ensembl chr 5:137,260,739...137,265,015
JBrowse link
G Cdca8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,911,310...142,933,536
Ensembl chr 5:142,911,305...142,933,526
JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,383,065...137,458,594
NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184
Ensembl chr 5:137,383,048...137,458,184
JBrowse link
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,597,731...139,598,622
Ensembl chr 5:139,597,731...139,598,622
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,577,670...144,617,507
Ensembl chr 5:144,581,427...144,616,335
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,091,167...146,743,436
Ensembl chr 5:146,383,942...146,739,418
JBrowse link
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Dlgap3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,234,757...145,304,536
Ensembl chr 5:145,257,714...145,304,536
JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,533,791...136,541,795
Ensembl chr 5:136,533,792...136,541,795
JBrowse link
G Dnali1 dynein, axonemal, light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,053,365...143,062,203
Ensembl chr 5:143,053,367...143,062,226
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,723,398...136,726,358
Ensembl chr 5:136,723,406...136,726,358
JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,995,128...135,997,807
Ensembl chr 5:135,997,052...135,997,711
JBrowse link
G Ebna1bp2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,458,692...137,463,255
Ensembl chr 5:137,670,123...137,674,802
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,255,868...137,260,486
Ensembl chr 5:137,255,908...137,260,483
JBrowse link
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,875,171...142,910,537
Ensembl chr 5:142,875,773...142,908,395
JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,406,009...136,533,408
Ensembl chr 5:136,406,130...136,533,389
JBrowse link
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
JBrowse link
G Eva1b eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,160,026...144,161,421
Ensembl chr 5:144,160,108...144,161,410
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,849,930...139,853,247
Ensembl chr 5:139,849,930...139,853,247
JBrowse link
G Fam183a family with sequence similarity 183 member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr10:44,736,547...44,746,907
Ensembl chr10:44,736,545...44,746,549
JBrowse link
G Fhl3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,688,962...142,696,330
Ensembl chr 5:142,689,026...142,696,383
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
JBrowse link
G Foxj3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,587,968...138,676,948
Ensembl chr 5:138,605,793...138,676,962
JBrowse link
G Foxo6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,208,153...139,227,288
Ensembl chr 5:139,208,046...139,227,196
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
G Gjb5 gap junction protein, beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,422,034...145,440,558
Ensembl chr 5:145,422,357...145,423,172
JBrowse link
G Gnl2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,027,970...143,053,418
Ensembl chr 5:143,027,977...143,055,190
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,398,926...135,439,772
Ensembl chr 5:135,412,256...135,439,577
JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,500,441...143,715,546
Ensembl chr 5:143,500,441...143,715,546
JBrowse link
G Guca2a guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,685,634...138,687,476
Ensembl chr 5:138,685,624...138,687,816
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,860,578...135,870,535
Ensembl chr 5:135,860,675...135,868,495
JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,923,914...140,940,905
Ensembl chr 5:140,923,914...140,940,905
JBrowse link
G Hivep3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,774,501...139,077,403
Ensembl chr 5:139,007,642...139,077,377
JBrowse link
G Hmgb4 high-mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,445,545...146,446,227
Ensembl chr 5:146,445,545...146,446,227
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Hpcal4 hippocalcin-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,870,127...140,882,242
Ensembl chr 5:140,870,140...140,882,244
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,189,440...137,192,125
Ensembl chr 5:137,189,473...137,192,240
JBrowse link
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,731,767...142,796,305
Ensembl chr 5:142,731,767...142,796,305
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,728,744...136,749,187
Ensembl chr 5:136,728,740...136,748,980
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,351,767...135,390,363
Ensembl chr 5:135,351,816...135,388,083
JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
JBrowse link
G Kdm4a lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,027,923...136,053,268
Ensembl chr 5:136,027,934...136,053,210
JBrowse link
G Klf17 Kruppel-like factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,602,472...136,610,058
Ensembl chr 5:136,602,395...136,610,054
JBrowse link
G LOC100294508 dyslexia susceptibility 2-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,779,306...144,872,271
Ensembl chr 5:144,779,681...144,872,271
JBrowse link
G LOC100361083 hypothetical LOC100361083 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,096,801...141,100,963 JBrowse link
G LOC100912566 UPF0500 protein C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,320,693...146,342,159
Ensembl chr 5:146,337,491...146,342,154
JBrowse link
G LOC682102 hypothetical protein LOC682102 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,023,695...146,069,623
Ensembl chr 5:146,023,696...146,069,670
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Maneal mannosidase, endo-alpha-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,850,139...142,857,292
Ensembl chr 5:142,851,526...142,857,131
JBrowse link
G Map7d1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,250,416...144,274,981
Ensembl chr 5:144,250,419...144,274,981
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,149,336...135,285,337
Ensembl chr 5:135,149,307...135,285,337
JBrowse link
G Meaf6 MYST/Esa1-associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,081,298...143,103,225
Ensembl chr 5:143,081,326...143,103,222
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Mir30c1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,699,877...139,699,965
Ensembl chr 5:139,699,877...139,699,965
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Mrps15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,054,452...144,065,045
Ensembl chr 5:144,054,452...144,065,045
JBrowse link
G Mtf1 metal-regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,797,340...142,843,896
Ensembl chr 5:142,797,366...142,842,122
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Mycbp Myc binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,560,192...141,567,399
Ensembl chr 5:141,560,192...141,567,399
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,446,485...135,472,113
Ensembl chr 5:135,446,962...135,472,116
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,769,452...144,779,271
Ensembl chr 5:144,769,452...144,779,212
JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,390,577...141,405,507
Ensembl chr 5:141,390,580...141,405,453
JBrowse link
G Nfyc nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,687,442...139,760,154
Ensembl chr 5:139,687,448...139,749,050
JBrowse link
G Nt5c1a 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,888,862...140,909,322
Ensembl chr 5:140,888,973...140,904,207
JBrowse link
G Oscp1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,067,391...144,099,693
Ensembl chr 5:144,067,416...144,098,207
JBrowse link
G Oxct2b 3-oxoacid CoA transferase 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,813,957...140,815,711 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
JBrowse link
G Pabpc4 poly(A) binding protein, cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,978,893...140,994,732
Ensembl chr 5:140,979,435...140,994,732
JBrowse link
G Phc2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,832,552...146,931,444
Ensembl chr 5:146,882,756...146,931,444
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
JBrowse link
G Plk3 polo-like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,997,725...136,002,900
Ensembl chr 5:135,997,725...136,002,900
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,643,599...142,646,580
Ensembl chr 5:142,643,599...142,646,580
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,466,298...138,470,108
Ensembl chr 5:138,466,293...138,470,096
JBrowse link
G Ppie peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,822,141...140,835,244
Ensembl chr 5:140,822,141...140,834,959
JBrowse link
G Ppih peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,343,934...138,361,743
Ensembl chr 5:138,352,916...138,361,702
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Psmb2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,702,004...144,734,220
Ensembl chr 5:144,701,949...144,734,257
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
JBrowse link
G RGD1305347 similar to RIKEN cDNA 2610528J11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,356,777...137,360,636
Ensembl chr 5:137,356,801...137,360,580
JBrowse link
G RGD1559909 RGD1559909 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,844,079...142,845,116
Ensembl chr 5:142,844,079...142,845,116
JBrowse link
G RGD1560436 similar to hypothetical protein FLJ20508 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,933,619...142,940,807
Ensembl chr 5:142,933,619...142,938,925
JBrowse link
G RGD1564804 similar to chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,274,907...138,279,285
Ensembl chr 5:138,274,907...138,279,285
JBrowse link
G Rhbdl2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,462,579...141,511,893
Ensembl chr 5:141,491,223...141,507,892
JBrowse link
G Rimkla ribosomal modification protein rimK-like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,518,559...138,545,577
Ensembl chr 5:138,521,340...138,545,404
JBrowse link
G Rims3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,790,395...139,819,014
Ensembl chr 5:139,783,951...139,819,016
JBrowse link
G Rlf RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,107,144...140,162,698
Ensembl chr 5:140,107,275...140,162,642
JBrowse link
G Rnf19b ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,246,032...147,270,892
Ensembl chr 5:147,246,037...147,270,957
JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,129,457...136,351,752
Ensembl chr 5:136,129,425...136,166,786
JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,020,941...136,023,511
Ensembl chr 5:136,020,941...136,023,511
JBrowse link
G Rragc Ras-related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,572,536...141,590,784
Ensembl chr 5:141,572,536...141,590,781
JBrowse link
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,333,890...147,375,151
Ensembl chr 5:147,335,242...147,375,009
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,379,256...139,466,805
Ensembl chr 5:139,385,429...139,466,081
JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,702,721...142,722,350
Ensembl chr 5:142,702,685...142,722,341
JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,079,803...145,088,517
Ensembl chr 5:145,079,803...145,088,498
JBrowse link
G Sh3d21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,161,881...144,178,161
Ensembl chr 5:144,162,141...144,176,807
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,467,933...139,473,599
Ensembl chr 5:139,468,546...139,473,017
JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,885,321...139,931,366
Ensembl chr 5:139,885,326...139,931,366
JBrowse link
G Smim12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,311,317...145,315,185
Ensembl chr 5:145,311,375...145,315,185
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Stk40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,112,612...144,150,653
Ensembl chr 5:144,114,012...144,150,647
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,245,639...138,251,353
Ensembl chr 5:138,245,639...138,251,353
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,341,955...144,345,500
Ensembl chr 5:144,341,946...144,345,531
JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,574,172...135,659,842
Ensembl chr 5:135,574,172...135,659,842
JBrowse link
G Tfap2e transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,740,950...144,761,787
Ensembl chr 5:144,740,956...144,761,787
JBrowse link
G Thrap3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,178,248...144,221,318
Ensembl chr 5:144,179,023...144,221,263
JBrowse link
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,294,544...137,321,116
Ensembl chr 5:137,294,544...137,321,121
JBrowse link
G Tmco2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,019,871...140,024,458
Ensembl chr 5:140,019,878...140,024,176
JBrowse link
G Tmem125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,371,825...137,373,229
Ensembl chr 5:137,371,825...137,373,205
Ensembl chr 5:137,371,825...137,373,205
JBrowse link
G Tmem35b transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,188,323...145,191,953
Ensembl chr 5:145,188,323...145,191,953
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,112,417...136,127,976
Ensembl chr 5:136,112,417...136,127,976
JBrowse link
G Tmem54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,288,700...147,295,191
Ensembl chr 5:147,288,723...147,296,702
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,394,013...135,397,591
Ensembl chr 5:135,394,016...135,397,591
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
JBrowse link
G Trim62 tripartite motif-containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,068,725...147,099,024
Ensembl chr 5:147,069,616...147,095,242
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Utp11 UTP11, small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,666,288...142,681,173
Ensembl chr 5:142,666,289...142,681,173
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C
ClinVar Annotator: match by OMIM:608323
OMIM
ClinVar
PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27027447 PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
JBrowse link
G Ybx1 Y box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,319,754...138,336,721
Ensembl chr 5:138,319,762...138,336,475
JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,845,265...142,850,110
Ensembl chr 5:142,845,114...142,850,111
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
JBrowse link
G Zfp362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,951,195...146,985,450
Ensembl chr 5:146,952,653...146,973,932
JBrowse link
G Zfp69 zinc finger protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,856,457...139,871,896 JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,217,841...138,222,534
Ensembl chr 5:138,217,845...138,222,534
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
G Zmym1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,106,518...145,123,869
Ensembl chr 5:145,105,997...145,123,861
JBrowse link
G Zmym4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,878,212...144,996,431
Ensembl chr 5:144,878,212...144,996,431
JBrowse link
G Zmym6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:145,138,667...145,186,285
Ensembl chr 5:145,138,697...145,186,357
JBrowse link
G Zmynd12 zinc finger, MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,470,165...138,505,928
Ensembl chr 5:138,470,069...138,505,556
JBrowse link
G Zscan20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,760,822...146,788,945
Ensembl chr 5:146,762,683...146,787,676
JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,735,825...135,854,525
Ensembl chr 5:135,735,825...135,852,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        neuromuscular disease 1766
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease intermediate type 189
              Charcot-Marie-Tooth disease dominant intermediate C 175
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease intermediate type 189
                    Charcot-Marie-Tooth disease dominant intermediate C 175
paths to the root