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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 1C
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Accession:DOID:0110151 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, TYPE IC;   CMT, slow nerve conduction type C;   CMT1C;   Charcot-Marie-Tooth disease, demyelinating, type 1C;   Charcot-Marie-Tooth neuropathy, type 1C;   HMSN IC;   HMSN1C;   HMSNIC;   hereditary motor and sensory neuropathy type 1C;   hereditary motor and sensory neuropathy type IC
 primary_id: MESH:C537984
 alt_id: OMIM:601098
 xref: ORDO:101083


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Atf7ip2 activating transcription factor 7 interacting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Hapstr1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601098
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C		 OMIM
CTD
MouseDO
ClinVar		 PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,259,328...5,270,848 JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Prm1 protamine 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,871,817...4,872,312 JBrowse link
G Prm2 protamine 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985 		JBrowse link
G Rmi2 RecQ mediated genome instability 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538 		JBrowse link
G Tvp23a trans-golgi network vesicle protein 23 homolog A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 1 65
              Charcot-Marie-Tooth disease type 1C 23
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 1 65
                    Charcot-Marie-Tooth disease type 1C 23
paths to the root