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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 7:107,695,227...107,723,759
Ensembl chr 7:107,695,215...107,723,772
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 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25741868 PMID:26100331 PMID:27549087 PMID:28492532 PMID:28554554 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO 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 disease, type IV
ClinVar PMID:9536098 PMID:17564959 PMID:17564972 PMID:17576681 PMID:19221294 PMID:25741868 PMID:26400421 PMID:26467025 PMID:28492532 PMID:28902413 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO 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 disease, type IV
ClinVar PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24088667 PMID:24878229 PMID:25382069 PMID:25510381 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27549087 PMID:28051077 PMID:28251916 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29525178 PMID:29650794 PMID:30740813 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar PMID:25741868 PMID:28492532 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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 chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4
ClinVar PMID:16437557 PMID:16835246 PMID:20587496 PMID:21508331 PMID:21707411 PMID:22206013 PMID:22492563 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26467025 PMID:27549087 PMID:28063088 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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 chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Mtmr2 myotubularin related protein 2 ISO 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 disease, type IV
ClinVar PMID:9536098 PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 PMID:14530412 PMID:17576681 PMID:17973976 PMID:20981092 PMID:25025039 PMID:25741868 PMID:26467025 PMID:27582484 PMID:27884173 PMID:28492532 NCBI chr 8:12,283,471...12,334,014
Ensembl chr 8:12,284,528...12,333,316
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO 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 disease, type IV
ClinVar PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:17470135 PMID:17576681 PMID:21892769 PMID:23996628 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:27854218 PMID:28492532 PMID:28776325 PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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 7:107,406,948...107,445,219
NCBI chr 7:108,613,731...108,759,741
Ensembl chr 7:108,613,739...108,756,747
Ensembl chr 7:108,613,739...108,756,747
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 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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 disease type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16770524 PMID:17576681 PMID:18410371 PMID:19837996 PMID:21079185 PMID:21840889 PMID:22847150 PMID:24011642 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25326637 PMID:25614874 PMID:25628743 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:27104957 PMID:27862672 PMID:28492532 PMID:28708278 PMID:28902413 PMID:29858556 PMID:31372974 PMID:31523542 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
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:15477569 PMID:17576681 PMID:25025039 PMID:25741868 PMID:25873783 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO 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 disease, type IV
ClinVar PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 PMID:17576681 PMID:18414213 PMID:18511281 PMID:18846676 PMID:19086034 PMID:19272779 PMID:19744956 PMID:20028792 PMID:20220177 PMID:20826437 PMID:21291453 PMID:21840889 PMID:22462672 PMID:22950825 PMID:22978647 PMID:23281072 PMID:23466821 PMID:23553667 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25188385 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26752306 PMID:26794302 PMID:27025386 PMID:27068304 PMID:27231023 PMID:27549087 PMID:27582484 PMID:28492532 PMID:28555600 PMID:29184351 PMID:29321516 PMID:29336362 PMID:30001926 PMID:30373780 PMID:31211173 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:107,585,055...107,604,950
Ensembl chr 7:107,584,118...107,634,335
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 ClinVar PMID:28492532 NCBI chr 7:107,264,235...107,392,808
Ensembl chr 7:107,262,929...107,392,972
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 chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a
OMIM
ClinVar
PMID:257 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15192818 PMID:15377708 PMID:15805163 PMID:16172208 PMID:17039978 PMID:17433678 PMID:17576681 PMID:18021315 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:25231362 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391, PMID:11743580, PMID:11743579 RGD:12738393, RGD:12738391 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4A ClinVar PMID:28492532 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4A ClinVar PMID:28492532 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4A ClinVar PMID:28492532 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
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 PMID:12707075 PMID:15805163 PMID:20849849 PMID:21840889 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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
ClinVar Annotator: match by OMIM:601382
OMIM
ClinVar
PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:17576681 PMID:20981092 PMID:25741868 PMID:26467025 PMID:27582484 PMID:27884173 PMID:28492532 PMID:32214227 NCBI chr 8:12,283,471...12,334,014
Ensembl chr 8:12,284,528...12,333,316
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 disease, type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
ClinVar Annotator: match by OMIM:604563
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9521281 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:25025039 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
JBrowse link
Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B3
ClinVar Annotator: match by OMIM:615284
OMIM
ClinVar
PMID:21210780 PMID:23749797 PMID:24799518 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
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: CMT 4C
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C
ClinVar Annotator: match by OMIM:601596
OMIM
ClinVar
PMID:14574644 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 PMID:18414213 PMID:18511281 PMID:19086034 PMID:19272779 PMID:19744956 PMID:20028792 PMID:20220177 PMID:21291453 PMID:21840889 PMID:22462672 PMID:22978647 PMID:23281072 PMID:23466821 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25188385 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26752306 PMID:26794302 PMID:27231023 PMID:27549087 PMID:27582484 PMID:28492532 PMID:29184351 PMID:29321516 PMID:30001926 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
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 ClinVar
OMIM
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:17470135 PMID:17576681 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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: Congenital hypomyelinating neuropathy
ClinVar Annotator: match by OMIM:605253
OMIM
ClinVar
PMID:9537424 PMID:10369870 PMID:17717711 PMID:25741868 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by OMIM:605253
ClinVar Annotator: match by term: Hypomyelination, severe congenital
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4E
ClinVar PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 PMID:12807974 PMID:12953275 PMID:15094849 PMID:15241803 PMID:17468193 PMID:19454582 PMID:20456450 PMID:23342407 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4E
ClinVar Annotator: match by term: Hypomyelination, severe congenital
ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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, demyelinating, type 4F
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 OMIM:614895
OMIM
ClinVar
PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16534116 PMID:16770524 PMID:18504680 PMID:19837996 PMID:21079185 PMID:21741241 PMID:22847150 PMID:24011642 PMID:24033266 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25326637 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:27104957 PMID:28492532 PMID:31372974 PMID:31523542 PMID:32214227 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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: Neuropathy, hereditary motor and sensory, Russe type
ClinVar Annotator: match by OMIM:605285
OMIM
ClinVar
PMID:10915613 PMID:11601496 PMID:19536174 PMID:22978647 PMID:23996628 PMID:25741868 PMID:30778173 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
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
ClinVar Annotator: match by OMIM:609311
OMIM
ClinVar
PMID:15744041 PMID:17564959 PMID:17564972 PMID:19221294 PMID:19332693 PMID:22734899 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
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, type 4J
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25510381 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29650794 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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 ClinVar
OMIM
PMID:10443880 PMID:10558868 PMID:10746561 PMID:12515039 PMID:14557577 PMID:16225813 PMID:16542579 PMID:18583168 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24462369 PMID:25741868 PMID:27896082 PMID:28492532 PMID:29933018 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        neuromuscular disease 1776
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease type 4 34
              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 1
              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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            Nervous System Heredodegenerative Disorders 1977
              motor peripheral neuropathy 480
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 4 34
                    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 1
                    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