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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 axonal type 2O
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Accession:DOID:0110175 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O;   CMT2O;   autosomal dominant Charcot-Marie-Tooth disease type 2O
 primary_id: MIM:614228
 alt_id: RDO:9000222;   RDO:9002957
 xref: ORDO:284232


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Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Aspg asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Atp5mj-ps1 ATP synthase membrane subunit j, pseudogene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 1:168,472,019...168,472,630
Ensembl chr 1:168,472,329...168,472,610 		JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587 		JBrowse link
G C6h14orf180 similar to human chromosome 14 open reading frame 180 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658 		JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO
ISS		 OMIM:614228
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:17576681 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656 		JBrowse link
G Exoc3l4 exocyst complex component 3-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Kif26a kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Pld4 phospholipase D family, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376 		JBrowse link
G Ppp1r13b protein phosphatase 1, regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,890,682...130,963,845
Ensembl chr 6:130,890,679...130,963,330 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:25817843 PMID:28492532 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153 		JBrowse link
G Rd3l RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,042,274...131,044,178
Ensembl chr 6:131,042,185...131,044,163 		JBrowse link
G Siva1 SIVA1, apoptosis-inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690 		JBrowse link
G Tdrd9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Tmem179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,569,289...131,580,413
Ensembl chr 6:131,569,290...131,580,305 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,751,952...129,821,464
Ensembl chr 6:129,752,014...129,847,339 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
G Zfp839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr 6:129,865,859...129,885,816
Ensembl chr 6:129,864,915...129,886,389 		JBrowse link
G Zfyve21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      musculoskeletal system disease 8466
        neuromuscular disease 3189
          Charcot-Marie-Tooth disease 726
            Charcot-Marie-Tooth disease type 2 318
              Charcot-Marie-Tooth disease axonal type 2O 48
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          neurodegenerative disease 5002
            Nervous System Heredodegenerative Disorders 3348
              motor peripheral neuropathy 1287
                Charcot-Marie-Tooth disease 726
                  Charcot-Marie-Tooth disease type 2 318
                    Charcot-Marie-Tooth disease axonal type 2O 48
paths to the root