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Charcot-Marie-Tooth disease type 1F - Ontology Report - Rat Genome Database

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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 1F
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Accession:DOID:0110149 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)
Synonyms:exact_synonym: CMT 1F;   CMT1f;   Charcot-Marie-Tooth disease, demyelinating, type 1F;   Charcot-Marie-Tooth neuropathy, type 1F
 primary_id: MESH:C537987
 alt_id: MIM:607734;   RDO:0003916
 xref: ORDO:101085

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Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609 		JBrowse link
G G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G P NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G S Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		JBrowse link
G D NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G B NEFL neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		JBrowse link
G C Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G R Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G M Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G H NEFL neurofilament light chain IAGP
EXP		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CMT 1F		 ClinVar
CTD
OMIM		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        neuromuscular disease 33680
          Charcot-Marie-Tooth disease 7379
            Charcot-Marie-Tooth disease type 1 626
              Charcot-Marie-Tooth disease type 1F 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          neurodegenerative disease 56131
            Nervous System Heredodegenerative Disorders 34568
              motor peripheral neuropathy 13240
                Charcot-Marie-Tooth disease 7379
                  Charcot-Marie-Tooth disease type 1 626
                    Charcot-Marie-Tooth disease type 1F 10
paths to the root