Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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

GViewer not supported for the selected species.

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 chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		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 chrNW_004955442:7,896,626...7,975,579
Ensembl chrNW_004955442:7,894,518...7,941,580 		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 chrNW_004955442:9,382,360...9,388,414
Ensembl chrNW_004955442:9,382,354...9,388,414 		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 chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		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 chrNW_004955442:7,369,616...7,584,052
Ensembl chrNW_004955442:7,368,952...7,584,703 		JBrowse link
G Dexi Dexi homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,585,954...7,599,413
Ensembl chrNW_004955442:7,585,954...7,599,413 		JBrowse link
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,826,967...7,862,035
Ensembl chrNW_004955442:7,826,738...7,860,028 		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 chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		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 chrNW_004955442:9,161,383...9,189,376
Ensembl chrNW_004955442:9,164,113...9,189,588 		JBrowse link
G Litaf lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C OMIM
ClinVar		 PMID:1407588 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 More... NCBI chrNW_004955442:7,054,418...7,084,973
Ensembl chrNW_004955442:7,077,823...7,083,437 		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 chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,717,422...7,732,496
Ensembl chrNW_004955442:7,717,422...7,732,496 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719 		JBrowse link
G Prm3 protamine 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,308,621...7,309,105
Ensembl chrNW_004955442:7,306,672...7,309,671 		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 chrNW_004955442:7,262,381...7,266,992
Ensembl chrNW_004955442:7,262,381...7,267,428 		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 chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109 		JBrowse link
G Tekt5 tektin 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,740,611...7,778,130
Ensembl chrNW_004955442:7,740,540...7,778,245 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:9,411,849...9,414,017
Ensembl chrNW_004955442:9,411,908...9,417,324 		JBrowse link
G Tnp2 transition protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:7,311,826...7,314,046 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 chrNW_004955442:7,691,770...7,716,383
Ensembl chrNW_004955442:7,692,579...7,716,699 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C ClinVar PMID:28492532 NCBI chrNW_004955442:9,316,022...9,355,751
Ensembl chrNW_004955442:9,315,225...9,356,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        neuromuscular disease 2848
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 1 56
              Charcot-Marie-Tooth disease type 1C 21
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          neurodegenerative disease 4401
            Nervous System Heredodegenerative Disorders 3017
              motor peripheral neuropathy 1148
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 1 56
                    Charcot-Marie-Tooth disease type 1C 21
paths to the root