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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
 xref: GARD:12440;   ORDO:64749

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Charcot-Marie-Tooth disease type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg1l AFG1 like ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:13,769,419...14,031,477
Ensembl chrNW_004624780:13,771,341...14,038,146 		JBrowse link
G Ak9 adenylate kinase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624805:30,647...163,314
Ensembl chrNW_004624805:30,555...159,236 		JBrowse link
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:104,856...219,341
Ensembl chrNW_004624916:104,119...219,359 		JBrowse link
G Bend3 BEN domain containing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:15,184,494...15,221,419
Ensembl chrNW_004624780:15,184,450...15,224,493 		JBrowse link
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chrNW_004624735:22,789,784...22,819,527
Ensembl chrNW_004624735:22,788,475...22,819,648 		JBrowse link
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:643,145...656,266 JBrowse link
G Cep57l1 centrosomal protein 57 like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:333,369...407,633
Ensembl chrNW_004624916:379,522...404,186 		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 chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968 		JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chrNW_004624778:3,391,690...3,475,548 JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097 		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 chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		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 chrNW_004624778:3,509,546...3,743,213
Ensembl chrNW_004624778:3,498,436...3,743,312 		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: 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 chrNW_004624850:29,362...156,346 JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374 		JBrowse link
G Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878 NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		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 chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819 		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 chrNW_004624735:23,441,042...23,752,197
Ensembl chrNW_004624735:23,441,042...23,751,247 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972 		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:17444508 More... NCBI chrNW_004624818:1,041,371...1,065,061
Ensembl chrNW_004624818:1,041,369...1,065,023 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:701,118...712,254
Ensembl chrNW_004624916:701,249...710,148 		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 chrNW_004624747:7,386,052...7,426,257
Ensembl chrNW_004624747:7,384,270...7,426,285 		JBrowse link
G Mtmr2 myotubularin related protein 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:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 More... NCBI chrNW_004624735:40,673,156...40,770,693 JBrowse link
G Mtres1 mitochondrial transcription rescue factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:15,233,686...15,246,172
Ensembl chrNW_004624780:15,233,566...15,246,178 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 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:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347 		JBrowse link
G Nr2e1 nuclear receptor subfamily 2 group E member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,098,144...14,119,791
Ensembl chrNW_004624780:14,098,360...14,119,772 		JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,212,803...14,247,818
Ensembl chrNW_004624780:14,212,762...14,247,994 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,803,750...15,130,156
Ensembl chrNW_004624780:14,804,030...15,129,497 		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 chrNW_004624735:23,101,075...23,171,195
Ensembl chrNW_004624735:23,101,075...23,171,145 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chrNW_004624925:361,306...382,172
Ensembl chrNW_004624925:361,418...382,172 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G Ppil6 peptidylprolyl isomerase like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:671,373...697,867
Ensembl chrNW_004624916:667,163...697,803 		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 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:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 More... NCBI chrNW_004624925:393,285...407,817 JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:15,629,167...15,664,787
Ensembl chrNW_004624780:15,628,678...15,664,651 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:15,606,146...15,705,320
Ensembl chrNW_004624780:15,664,836...15,705,320 		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 chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974 		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 Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More... NCBI chrNW_004624766:1,907,531...2,384,055
Ensembl chrNW_004624766:1,909,101...2,383,924 		JBrowse link
G Scml4 Scm polycomb group protein like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,516,123...14,575,762
Ensembl chrNW_004624780:14,502,821...14,578,402 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,322,651...14,405,674
Ensembl chrNW_004624780:14,322,707...14,405,673 		JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chrNW_004624801:6,988,914...7,156,469
Ensembl chrNW_004624801:6,988,904...7,159,072 		JBrowse link
G Sesn1 sestrin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:231,168...332,423
Ensembl chrNW_004624916:230,348...332,985 		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:3000192 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 More... NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774 		JBrowse link
G Sla Src like adaptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chrNW_004624735:22,929,467...22,949,471
Ensembl chrNW_004624735:22,892,713...22,950,355 		JBrowse link
G Smpd2 sphingomyelin phosphodiesterase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:697,861...701,015
Ensembl chrNW_004624916:697,006...701,012 		JBrowse link
G Snx3 sorting nexin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,043,002...14,080,380
Ensembl chrNW_004624780:14,043,003...14,080,380 		JBrowse link
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624780:14,618,283...14,773,190
Ensembl chrNW_004624780:14,616,469...14,773,237 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:12872253 PMID:23996628 PMID:28492532 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chrNW_004624735:23,171,402...23,265,855 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 PMID:32376792 NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 NCBI chrNW_004624735:8,987,390...9,122,277
Ensembl chrNW_004624735:8,987,469...9,124,516 		JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:23623387 PMID:28492532 NCBI chrNW_004624916:720,119...738,934 JBrowse link
Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731 		JBrowse link
G Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chrNW_004624744:16,937,138...17,013,765
Ensembl chrNW_004624744:16,937,092...17,013,862 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chrNW_004624744:17,209,285...17,241,347
Ensembl chrNW_004624744:17,208,990...17,241,347 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chrNW_004624744:17,256,749...17,265,507
Ensembl chrNW_004624744:17,259,245...17,266,115 		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 Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004624801:5,844,824...5,867,439
Ensembl chrNW_004624801:5,846,729...5,867,427 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chrNW_004624868:3,598,523...3,649,641
Ensembl chrNW_004624868:3,598,688...3,650,731 		JBrowse link
G Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | 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 chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		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 chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972 		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 Neuropathy Type 4B1 | 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 chrNW_004624735:40,673,156...40,770,693 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:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chrNW_004624766:1,907,531...2,384,055
Ensembl chrNW_004624766:1,909,101...2,383,924 		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 chrNW_004624752:331,301...434,191
Ensembl chrNW_004624752:332,145...411,391 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974 		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:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774 		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 Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D ClinVar
OMIM		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347 		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:12736090 PMID:17717711 PMID:20301384 More... NCBI chrNW_004624791:953,009...959,656
Ensembl chrNW_004624791:955,161...959,791 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 More... NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		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 chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292 		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 | ClinVar Annotator: match by term: PRX-related condition OMIM
ClinVar		 PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chrNW_004624925:393,285...407,817 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 chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		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 Neuropathy Type 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H OMIM
ClinVar		 PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chrNW_004624778:3,509,546...3,743,213
Ensembl chrNW_004624778:3,498,436...3,743,312 		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 chrNW_004624850:29,362...156,346 JBrowse link
Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101710326 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K ClinVar
OMIM		 PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More... NCBI chrNW_004624760:1,815,215...1,819,014
Ensembl chrNW_004624760:1,815,224...1,818,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      musculoskeletal system disease 7235
        neuromuscular disease 2849
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 4 62
              Charcot-Marie-Tooth Disease Type 4A, Axonal Form 4
              Charcot-Marie-Tooth disease type 4A 5
              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 14089
    disease of anatomical entity 13754
      nervous system disease 12030
        central nervous system disease 10809
          neurodegenerative disease 4386
            Nervous System Heredodegenerative Disorders 3002
              motor peripheral neuropathy 1142
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 4 62
                    Charcot-Marie-Tooth Disease Type 4A, Axonal Form 4
                    Charcot-Marie-Tooth disease type 4A 5
                    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