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
Accession: DOID:0110199
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
GViewer not supported for the selected species.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:17576681 PMID:19561293 PMID:21384131 PMID:21576112 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27027447 PMID:28440294 PMID:28492532 PMID:29302074 PMID:30304524 PMID:30340945 PMID:30373780 PMID:31130284 PMID:34352414 PMID:34536092 PMID:34813128 More...
NCBI chrNW_004955452:11,046,047...11,078,016
Ensembl chrNW_004955452:11,046,047...11,078,016
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all