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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 B
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Accession:DOID:0110197 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)
Synonyms:exact_synonym: CMTDI1;   CMTDIB;   Charcot-Marie-Tooth Disease, Axonal, Type 2m;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B;   DI-CMTB;   DNM2-related intermediate Charcot-Marie-Tooth neuropathy
 narrow_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M;   CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M;   CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CMT2M;   CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
 primary_id: MESH:C564703
 alt_id: OMIM:606482
 xref: ORDO:100044


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AB124611 cDNA sequence AB124611 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,437,410...21,456,629
Ensembl chr 9:21,437,472...21,456,629 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,746,806...21,748,643
Ensembl chr 9:21,746,806...21,748,643 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,733,831...85,741,160
Ensembl chr 8:85,733,831...85,741,160 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,838,767...21,847,168
Ensembl chr 9:21,838,767...21,847,168 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,010,501...22,020,517
Ensembl chr 9:22,010,512...22,020,926 		JBrowse link
G Dand5 DAN domain family member 5, BMP antagonist ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,542,034...85,558,894
Ensembl chr 8:85,542,033...85,559,038 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,798,106...85,801,790
Ensembl chr 8:85,798,386...85,801,791 		JBrowse link
G Dnase2a deoxyribonuclease II alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		JBrowse link
G Dnm2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia		 OMIM
CTD
ClinVar		 PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Ecsit ECSIT signalling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,982,731...21,997,648
Ensembl chr 9:21,983,542...21,996,734 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,926,301...21,963,442
Ensembl chr 9:21,926,301...21,963,319 		JBrowse link
G Elof1 ELF1 homolog, elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,024,282...22,028,491
Ensembl chr 9:22,024,285...22,028,468 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase, alpha subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,583,597...85,595,886
Ensembl chr 8:85,583,618...85,595,886 		JBrowse link
G Fbxw9 F-box and WD-40 domain protein 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,786,748...85,793,750
Ensembl chr 8:85,786,684...85,793,753 		JBrowse link
G Gadd45gip1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,558,911...85,562,111
Ensembl chr 8:85,558,151...85,562,111 		JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,744,558...85,751,916
Ensembl chr 8:85,744,560...85,751,910 		JBrowse link
G Gm14295 predicted gene 14295 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 2:176,489,972...176,512,508
Ensembl chr 2:176,490,405...176,503,016 		JBrowse link
G Gm2026 predicted gene 2026 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 2:175,757,045...175,778,388
Ensembl chr 2:175,757,124...175,772,096 		JBrowse link
G Hook2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,715,402...85,729,981
Ensembl chr 8:85,717,232...85,729,978 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,387,960...85,389,481
Ensembl chr 8:85,387,960...85,389,483 		JBrowse link
G Junb jun B proto-oncogene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
G Lyl1 lymphoblastomic leukemia 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988 		JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860 		JBrowse link
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531 		JBrowse link
G Nfix nuclear factor I/X ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,696,251...85,701,440
Ensembl chr 8:85,696,216...85,701,463 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,914,314...21,925,521
Ensembl chr 9:21,914,102...21,925,518 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,818,787...21,829,623
Ensembl chr 9:21,818,787...21,829,488 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,561,540...85,567,361
Ensembl chr 8:85,560,648...85,567,294 		JBrowse link
G Rgl3 ral guanine nucleotide dissociation stimulator-like 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,882,475...21,900,765
Ensembl chr 9:21,880,007...21,900,742 		JBrowse link
G Rnaseh2a ribonuclease H2, large subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Spc24 SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,666,730...21,671,741
Ensembl chr 9:21,666,738...21,671,599 		JBrowse link
G Swsap1 SWIM type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,867,049...21,869,566
Ensembl chr 9:21,867,051...21,869,560 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,504,018...21,507,266
Ensembl chr 9:21,504,018...21,507,266 		JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,418,676...21,421,530
Ensembl chr 9:21,418,849...21,421,548 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,832,305...21,838,831
Ensembl chr 9:21,832,304...21,838,852 		JBrowse link
G Tnpo2 transportin 2 (importin 3, karyopherin beta 2b) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,763,502...85,784,214
Ensembl chr 8:85,763,544...85,784,212 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,753,440...85,756,920
Ensembl chr 8:85,753,452...85,756,915 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,412,953...85,426,437
Ensembl chr 8:85,412,936...85,426,437 		JBrowse link
G Wdr83 WD repeat domain containing 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,801,664...85,807,375
Ensembl chr 8:85,801,664...85,807,935 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,807,592...85,808,968
Ensembl chr 8:85,807,369...85,808,968 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,499,978...21,504,131
Ensembl chr 9:21,499,978...21,504,124 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:21,966,705...21,982,707
Ensembl chr 9:21,966,707...21,982,672 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:72,635,912...72,646,409
Ensembl chr 8:72,635,863...72,649,571 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:85,833,797...85,849,724
Ensembl chr 8:85,835,182...85,849,724 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr17:33,031,125...33,049,235
Ensembl chr17:33,034,423...33,049,235 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr11:59,352,023...59,363,353
Ensembl chr11:59,352,023...59,363,300 		JBrowse link
G Zfp872 zinc finger protein 872 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 9:22,099,462...22,113,419
Ensembl chr 9:22,099,386...22,113,419 		JBrowse link
G Zfp931 zinc finger protein 931 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 2:177,708,239...177,721,858
Ensembl chr 2:177,709,488...177,720,269 		JBrowse link
G Zfp958 zinc finger protein 958 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:4,663,170...4,682,572
Ensembl chr 8:4,663,167...4,680,231 		JBrowse link
G Zfp961 zinc finger protein 961 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr 8:72,704,910...72,724,177
Ensembl chr 8:72,704,882...72,747,636 		JBrowse link
G Zfp997 zinc finger protein 997 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr13:66,258,188...66,271,523
Ensembl chr13:66,261,294...66,271,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        neuromuscular disease 3076
          Charcot-Marie-Tooth disease 658
            Charcot-Marie-Tooth disease intermediate type 259
              Charcot-Marie-Tooth disease dominant intermediate B 68
                Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            Nervous System Heredodegenerative Disorders 3288
              motor peripheral neuropathy 1203
                Charcot-Marie-Tooth disease 658
                  Charcot-Marie-Tooth disease intermediate type 259
                    Charcot-Marie-Tooth disease dominant intermediate B 68
                      Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
paths to the root