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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 type X
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Accession:DOID:0050542 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth neuropathy X;   Charcot-Marie-Tooth, X-linked
 xref: ORDO:64747

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Charcot-Marie-Tooth disease type X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20818383 More... NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Atg4a autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,641,192...6,691,685
Ensembl chrNW_004936499:6,640,957...6,691,995 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,818,436...7,828,444
Ensembl chrNW_004936499:7,820,410...7,821,102 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,421,930...6,640,429
Ensembl chrNW_004936499:6,362,295...6,639,047 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,463,225...7,503,322
Ensembl chrNW_004936499:7,462,398...7,494,713 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X ClinVar PMID:23999528 PMID:25741868 PMID:26227883 PMID:29473052 PMID:31217940 NCBI chrNW_004936813:292,408...334,079
Ensembl chrNW_004936813:292,396...334,020 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,155,413...7,220,876
Ensembl chrNW_004936499:7,155,505...7,220,915 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:1211842 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 More... NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898 		JBrowse link
G Gucy2f guanylate cyclase 2F, retinal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:5,653,384...5,752,732 JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,111,422...6,127,487
Ensembl chrNW_004936499:6,111,487...6,115,272 		JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:5,557,076...5,558,467
Ensembl chrNW_004936499:5,557,202...5,557,627 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,833,328...6,926,531
Ensembl chrNW_004936499:6,829,729...6,926,571 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,755,405...7,811,718
Ensembl chrNW_004936499:7,755,368...7,811,282 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,503,475...7,579,453 JBrowse link
G Nxt2 nuclear transport factor 2 like export factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:5,604,376...5,610,972
Ensembl chrNW_004936499:5,603,805...5,611,029 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked ClinVar PMID:8702702 PMID:8968763 PMID:17701900 PMID:20021999 PMID:20301731 More... NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,691,758...6,698,515
Ensembl chrNW_004936499:6,691,476...6,702,986 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:3856385 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20818383 More... NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,585,352...7,655,419
Ensembl chrNW_004936499:7,585,324...7,655,384 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,845,180...7,848,954
Ensembl chrNW_004936499:7,846,041...7,848,400 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:7,876,238...7,946,054
Ensembl chrNW_004936499:7,876,230...7,946,068 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,789,511...6,790,771 JBrowse link
G Tsc22d3 TSC22 domain family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,977,924...7,044,173
Ensembl chrNW_004936499:6,977,686...7,045,294 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X ClinVar PMID:24528855 PMID:28492532 NCBI chrNW_004936499:6,708,049...6,738,358
Ensembl chrNW_004936499:6,708,049...6,738,306 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 ClinVar PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 NCBI chrNW_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related condition | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 OMIM
ClinVar		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:18465152 PMID:20876471 PMID:25741868 PMID:28492532 NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chrNW_004936624:141,745...213,495
Ensembl chrNW_004936624:142,402...213,528 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy OMIM
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        neuromuscular disease 2899
          Charcot-Marie-Tooth disease 632
            Charcot-Marie-Tooth disease type X 29
              Charcot-Marie-Tooth disease X-linked dominant 1 4
              Charcot-Marie-Tooth disease X-linked dominant 6 1
              Charcot-Marie-Tooth disease X-linked recessive 2 0
              Charcot-Marie-Tooth disease X-linked recessive 3 0
              Charcot-Marie-Tooth disease X-linked recessive 4 2
              Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          neurodegenerative disease 4479
            Nervous System Heredodegenerative Disorders 3073
              motor peripheral neuropathy 1166
                Charcot-Marie-Tooth disease 632
                  Charcot-Marie-Tooth disease type X 29
                    Charcot-Marie-Tooth disease X-linked dominant 1 4
                    Charcot-Marie-Tooth disease X-linked dominant 6 1
                    Charcot-Marie-Tooth disease X-linked recessive 2 0
                    Charcot-Marie-Tooth disease X-linked recessive 3 0
                    Charcot-Marie-Tooth disease X-linked recessive 4 2
                    Charcot-Marie-Tooth disease X-linked recessive 5 1
paths to the root