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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 1
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Accession:DOID:0050538 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)
Synonyms:exact_synonym: Charcot Marie Tooth disease, type I;   Charcot Marie Tooth, type 1;   HMN distal type I;   HMSN I;   HMSN type I;   HMSN1;   Hereditary Type I Motor and Sensory Neuropathy;   hereditary motor and sensory neuropathy type 1
 alt_id: RDO:9002093;   RDO:9002804
 xref: GARD:12433
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr10:47,625,448...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25439726 PMID:26922252 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G LOC102553110 ral guanine nucleotide dissociation stimulator-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr16:11,203,355...11,209,558 JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:6099985 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar PMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:1303230 PMID:1303281 PMID:1552943 PMID:1564512 PMID:1677316 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:26059842 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:16199547 PMID:20220177 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,625,448...47,657,493
Ensembl chr10:47,625,470...47,657,493
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970
JBrowse link
G LOC102553110 ral guanine nucleotide dissociation stimulator-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:11,203,355...11,209,558 JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA
ClinVar Annotator: match by term: HMSN 1A
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A
OMIM
ClinVar
PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588
JBrowse link
Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
ClinVar
OMIM
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b ClinVar PMID:26378787 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1C
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:601098
OMIM
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:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
Charcot-Marie-Tooth disease type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1D
OMIM
ClinVar
PMID:9537424 PMID:10369870 PMID:10371530 PMID:10762521 PMID:11239949 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness
ClinVar Annotator: match by term: Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
ClinVar
OMIM
PMID:7139106 PMID:7829101 PMID:9324088 PMID:10211478 PMID:10330345 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1F
ClinVar Annotator: match by OMIM:607734
OMIM
ClinVar
PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 PMID:16452125 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmp2 peripheral myelin protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G
ClinVar
OMIM
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26828946 More... NCBI chr 2:91,611,334...91,615,252
Ensembl chr 2:91,611,334...91,615,252
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        neuromuscular disease 1890
          Charcot-Marie-Tooth disease 331
            Charcot-Marie-Tooth disease type 1 27
              Charcot-Marie-Tooth disease type 1A 6
              Charcot-Marie-Tooth disease type 1B 2
              Charcot-Marie-Tooth disease type 1C 2
              Charcot-Marie-Tooth disease type 1D 1
              Charcot-Marie-Tooth disease type 1E 2
              Charcot-Marie-Tooth disease type 1F 1
              Charcot-Marie-Tooth disease type 1G 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          neurodegenerative disease 3541
            Nervous System Heredodegenerative Disorders 2145
              motor peripheral neuropathy 511
                Charcot-Marie-Tooth disease 331
                  Charcot-Marie-Tooth disease type 1 27
                    Charcot-Marie-Tooth disease type 1A 6
                    Charcot-Marie-Tooth disease type 1B 2
                    Charcot-Marie-Tooth disease type 1C 2
                    Charcot-Marie-Tooth disease type 1D 1
                    Charcot-Marie-Tooth disease type 1E 2
                    Charcot-Marie-Tooth disease type 1F 1
                    Charcot-Marie-Tooth disease type 1G 1
paths to the root