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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 4
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Accession:DOID:0050541 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type IV;   Charcot-Marie-Tooth, type 4;   hereditary motor and sensory neuropathy;   hereditary motor and sensory neuropathy 4
 primary_id: RDO:9002807
 xref: GARD:12440;   ORDO:64749
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 More... NCBI chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 PMID:31673878 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 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 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:20301684 More... 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 4 ClinVar NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:9536098 PMID:10802647 PMID:11335693 PMID:11354824 PMID:12398840 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Phf20l1 PHD finger protein 20-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:16199547 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 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 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)		 OMIM
ClinVar
RGD		 PMID:257 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 More... RGD:12738393, RGD:12738391 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 OMIM
ClinVar		 PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:17576681 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172 		JBrowse link
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma OMIM
ClinVar		 PMID:9521281 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		JBrowse link
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 ClinVar PMID:23749797 PMID:33987933 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C OMIM
ClinVar		 PMID:14574644 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM
ClinVar		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
Charcot-Marie-Tooth disease type 4E 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 type 4E OMIM
ClinVar		 PMID:9537424 PMID:10369870 PMID:17717711 PMID:25741868 PMID:28492532 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 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: Hypomyelination, severe congenital 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
Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F OMIM
ClinVar		 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type OMIM
ClinVar		 PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More... NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H OMIM
ClinVar		 PMID:15744041 PMID:17564959 PMID:17564972 PMID:19221294 PMID:19332693 More... NCBI chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972 		JBrowse link
Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K OMIM
ClinVar		 PMID:24027061 PMID:25741868 PMID:28492532 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        neuromuscular disease 2202
          Charcot-Marie-Tooth disease 427
            Charcot-Marie-Tooth disease type 4 35
              Charcot-Marie-Tooth Disease Type 4A, Axonal Form 2
              Charcot-Marie-Tooth disease type 4A 4
              Charcot-Marie-Tooth disease type 4B1 1
              Charcot-Marie-Tooth disease type 4B2 1
              Charcot-Marie-Tooth disease type 4B3 2
              Charcot-Marie-Tooth disease type 4C 1
              Charcot-Marie-Tooth disease type 4D 1
              Charcot-Marie-Tooth disease type 4E 3
              Charcot-Marie-Tooth disease type 4F 1
              Charcot-Marie-Tooth disease type 4G 1
              Charcot-Marie-Tooth disease type 4H 1
              Charcot-Marie-Tooth disease type 4J 1
              Charcot-Marie-Tooth disease type 4K 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          neurodegenerative disease 3882
            Nervous System Heredodegenerative Disorders 2376
              motor peripheral neuropathy 678
                Charcot-Marie-Tooth disease 427
                  Charcot-Marie-Tooth disease type 4 35
                    Charcot-Marie-Tooth Disease Type 4A, Axonal Form 2
                    Charcot-Marie-Tooth disease type 4A 4
                    Charcot-Marie-Tooth disease type 4B1 1
                    Charcot-Marie-Tooth disease type 4B2 1
                    Charcot-Marie-Tooth disease type 4B3 2
                    Charcot-Marie-Tooth disease type 4C 1
                    Charcot-Marie-Tooth disease type 4D 1
                    Charcot-Marie-Tooth disease type 4E 3
                    Charcot-Marie-Tooth disease type 4F 1
                    Charcot-Marie-Tooth disease type 4G 1
                    Charcot-Marie-Tooth disease type 4H 1
                    Charcot-Marie-Tooth disease type 4J 1
                    Charcot-Marie-Tooth disease type 4K 1
paths to the root