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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:motor peripheral neuropathy
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Accession:DOID:2477 term browser browse the term
Definition:A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms:exact_synonym: HMSN;   HMSN Type VII;   HSMN;   HSMN - hereditary sensory and motor neuropathy;   Herditary Sensory and Motor Neuropathy;   Hereditary Motor and Sensory Neuropathies;   Hereditary Sensory and Motor Neuropathy;   hereditary motor and sensory neuropathy, type VII;   neuropathic muscular atrophy
 narrow_synonym: sensory neuropathy with spastic paraplegia
 primary_id: MESH:D015417
For additional species annotation, visit the Alliance of Genome Resources.


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motor peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10655068 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia ClinVar NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO 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 Egr2 early growth response 2 ISO congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N
CTD Direct Evidence: marker/mechanism
Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W
CTD PMID:10369870 PMID:11523566 RGD:1601012, RGD:734922 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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 Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17701891 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISS MouseDO NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 More... NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
ClinVar Annotator: match by OMIM:614879
OMIM
ClinVar
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
Charcot-Marie-Tooth disease term browser
Symbol Object Name Qualifiers 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 2 ClinVar PMID:20045102 PMID:22009580 PMID:23806086 PMID:24088041 PMID:24627108 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr10:43,997,983...44,014,543
Ensembl chr10:43,997,986...44,014,434
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25164601 PMID:26558264 NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 More... NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23142943 PMID:28492532 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542 PMID:15322984 PMID:16194727 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:19506225 PMID:23143281 PMID:24604904 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:27083531 More... NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15731758 PMID:16227997 PMID:17636067 PMID:18394888 PMID:18414213 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7898717 PMID:10210919 PMID:21532572 PMID:23365052 PMID:23521649 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21820100 PMID:22847149 More... 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 ClinVar PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15744041 PMID:17564959 PMID:17564972 PMID:19332693 PMID:22734899 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:9536098 PMID:17572665 PMID:17576681 PMID:19118816 PMID:21705420 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:28492532 NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... 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 DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar PMID:257 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... RGD:1358634, RGD:12738398 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1211842 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity IEP
ISO
RGD PMID:22189569 PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24314034 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 More... NCBI chr10:38,989,516...38,993,259 JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16215937 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15565283 PMID:23796487 NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 PMID:28492532 NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar PMID:2526018 PMID:8621584 PMID:10587585 PMID:10655060 PMID:10739751 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25488817 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:7964809 PMID:12601114 PMID:25741893 PMID:26497905 PMID:26659848 More... 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: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Roussy-Levy Syndrome
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by OMIM:118200
ClinVar
OMIM
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... RGD:1358513 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 Ensembl chr MT:7,919...8,599 JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV
ClinVar PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 More... NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12872253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 More... RGD:1358514 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20978020 PMID:22302274 PMID:28492532 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:77656 PMID:10330344 PMID:10982191 PMID:11139246 PMID:11159935 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:58,477,471...58,553,932
Ensembl chr  X:58,486,554...58,553,557
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24011642 PMID:25741868 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Roussy-Levy Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118220
DNA:missense mutation:cds:p.G107V (human)
ClinVar
CTD
OMIM
PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... RGD:1358786, RGD:2312445, RGD:1358560 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Roussy-Levy Syndrome
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
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 More... NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22703882 PMID:24604904 PMID:25025039 PMID:28492532 NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 NCBI chr 2:76,335,609...76,474,817 JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21210780 PMID:24799518 PMID:25558065 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 ClinVar PMID:9521281 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24776970 PMID:25741868 PMID:25791876 PMID:28166811 PMID:28492532 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary areflexic dystasia 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 Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 2:83,309,843...83,741,084
Ensembl chr 2:83,309,843...83,741,084
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15732101 PMID:16717225 PMID:25025039 PMID:25741868 PMID:25802885 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:14574644 PMID:16326826 PMID:16806930 PMID:16924012 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12368912 PMID:12838516 PMID:16606917 PMID:17893295 PMID:20020398 More... NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:26168012 PMID:28492532 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 PMID:28902413 More... NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:10463355 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15911806 PMID:16534117 PMID:16636245 PMID:18521183 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14606043 PMID:16429158 PMID:19561293 PMID:26138142 PMID:26257172 More... NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO DNA:missense mutation:cds:p.G327D (human) RGD PMID:21365284 RGD:12738395 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
OMIM
ClinVar
CTD
PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:9536098 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2CC
ClinVar
OMIM
PMID:25741868 PMID:27040688 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by OMIM:606595
OMIM
ClinVar
PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 More... NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human)
ClinVar Annotator: match by OMIM:607831
OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... RGD:12738397, RGD:12738396 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 2K OMIM
ClinVar
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 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 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 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 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,690,742...2,754,491 JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
ClinVar Annotator: match by OMIM:608673
OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:20538880 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185
JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Qualifiers 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 NEUROPATHY, AXONAL, TYPE 2N
ClinVar Annotator: match by OMIM:613287
OMIM
ClinVar
PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
OMIM
ClinVar
PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O ClinVar PMID:28492532 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
ClinVar Annotator: match by OMIM:614436
OMIM
ClinVar
PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2Q
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2q
OMIM
ClinVar
PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2S
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
ClinVar Annotator: match by OMIM:616155
OMIM
ClinVar
PMID:234316 PMID:2545169 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2t ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2T ClinVar
OMIM
PMID:15464186 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 More... NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
ClinVar Annotator: match by term: MARS-Related Disorder
OMIM
ClinVar
PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:28492532 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V ClinVar
OMIM
PMID:25741868 PMID:25818867 PMID:28492532 NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2X OMIM
ClinVar
PMID:17322883 PMID:18079167 PMID:18332254 PMID:18663179 PMID:19105190 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
OMIM
ClinVar
PMID:7964809 PMID:9536098 PMID:12601114 PMID:17576681 PMID:25741868 More... NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B
ClinVar Annotator: match by term: DNM2-related intermediate Charcot-Marie-Tooth neuropathy
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
ClinVar Annotator: match by synonym: Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
ClinVar Annotator: match by synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M
ClinVar Annotator: match by OMIM:606482
OMIM
ClinVar
PMID:9536098 PMID:15731758 PMID:16227997 PMID:17008356 PMID:17576681 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3galt2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,101,329...141,113,760
Ensembl chr 5:141,107,983...141,115,641
JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296
JBrowse link
G Ago1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,722,111...138,757,118
Ensembl chr 5:138,722,111...138,773,546
JBrowse link
G Ago3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,632,367...138,714,230
Ensembl chr 5:138,639,569...138,714,230
JBrowse link
G Ago4 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,780,450...138,825,889
Ensembl chr 5:138,783,069...138,825,632
JBrowse link
G Ak2 adenylate kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,989,378...136,004,782
Ensembl chr 5:135,989,465...136,004,762
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
JBrowse link
G Armh1 armadillo-like helical domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401
JBrowse link
G Azin2 antizyme inhibitor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,281,310...141,310,415
Ensembl chr 5:141,281,249...141,310,397
JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099
JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785
JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335
JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769
JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673
JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029
JBrowse link
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,926,767...133,019,635
Ensembl chr 5:132,926,615...133,019,659
JBrowse link
G Cdc20 cell division cycle 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,966,203...131,970,406
Ensembl chr 5:131,966,215...131,970,512
JBrowse link
G Cdca8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,176,414...137,198,686
Ensembl chr 5:137,176,417...137,198,629
JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
JBrowse link
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,246,936...134,247,827
Ensembl chr 5:134,246,682...134,248,135
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,850,119...138,885,037
Ensembl chr 5:138,850,128...138,885,034
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,342,352...140,912,422
Ensembl chr 5:140,342,376...140,912,234
JBrowse link
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Dlgap3 DLG associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,491,972...139,562,625
Ensembl chr 5:139,492,947...139,562,625
JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
JBrowse link
G Dnali1 dynein, axonemal, light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,318,475...137,327,313
Ensembl chr 5:137,318,477...137,327,336
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,605,417...130,607,224
Ensembl chr 5:130,605,399...130,607,666
JBrowse link
G Ebna1bp2 EBNA1 binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,148,164...132,152,730
Ensembl chr 5:132,148,143...132,153,267
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332
JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958
JBrowse link
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,139,588...137,175,637
Ensembl chr 5:137,140,735...137,174,157
JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329
JBrowse link
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
JBrowse link
G Eva1b eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,427,083...138,429,602
Ensembl chr 5:138,427,151...138,432,433
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,494,440...134,497,757
Ensembl chr 5:134,493,829...134,497,772
JBrowse link
G Fam183a family with sequence similarity 183 member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr10:43,509,823...43,520,042
Ensembl chr10:43,509,826...43,520,086
JBrowse link
G Fhl3 four and a half LIM domains 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,953,947...136,961,317
Ensembl chr 5:136,950,411...136,961,317
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
JBrowse link
G Foxj3 forkhead box J3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,140,344...133,228,489
Ensembl chr 5:133,140,884...133,228,489
JBrowse link
G Foxo6 forkhead box O6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,856,800...133,875,922
Ensembl chr 5:133,856,072...133,876,573
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
JBrowse link
G Gjb5 gap junction protein, beta 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,680,670...139,683,588
Ensembl chr 5:139,680,671...139,683,583
JBrowse link
G Gnl2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,293,141...137,318,528
Ensembl chr 5:137,293,081...137,318,526
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,009,773...130,050,636
Ensembl chr 5:130,023,137...130,050,459
JBrowse link
G Guca2a guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,237,177...133,239,019
Ensembl chr 5:133,237,177...133,239,018
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,469,841...130,479,802
Ensembl chr 5:130,469,840...130,478,561
JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,508,160...135,525,152
Ensembl chr 5:135,508,160...135,525,152
JBrowse link
G Hivep3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,325,327...133,727,797
Ensembl chr 5:133,658,052...133,727,795
JBrowse link
G Hmgb4 high-mobility group box 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,616,040...140,616,722
Ensembl chr 5:140,615,197...140,616,770
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841
JBrowse link
G Hpcal4 hippocalcin-like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,454,477...135,466,417
Ensembl chr 5:135,454,540...135,466,416
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,894,575...131,897,709
Ensembl chr 5:131,894,598...131,897,251
JBrowse link
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242
JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932
JBrowse link
G Kdm4a lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
JBrowse link
G Klf17 Kruppel-like factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084
JBrowse link
G LOC100294508 dyslexia susceptibility 2-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,047,847...139,140,709
Ensembl chr 5:139,046,143...139,140,715
JBrowse link
G LOC100361083 hypothetical LOC100361083 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,681,076...135,685,238 JBrowse link
G LOC682102 hypothetical protein LOC682102 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,282,041...140,325,815
Ensembl chr 5:140,282,043...140,325,815
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Maneal mannosidase, endo-alpha-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,115,154...137,122,299
Ensembl chr 5:137,115,632...137,122,353
JBrowse link
G Map7d1 MAP7 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,527,944...138,552,537
Ensembl chr 5:138,527,401...138,552,499
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606
JBrowse link
G Meaf6 MYST/Esa1-associated factor 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,344,681...137,369,703
Ensembl chr 5:137,344,380...137,370,014
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
JBrowse link
G Mir30c1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,349,237...134,349,325
Ensembl chr 5:134,349,237...134,349,325
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Mrps15 mitochondrial ribosomal protein S15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,321,610...138,332,205
Ensembl chr 5:138,321,593...138,332,205
JBrowse link
G Mtf1 metal-regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,062,319...137,107,136
Ensembl chr 5:137,062,376...137,107,136
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Mycbp Myc binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,037,807...139,047,645
Ensembl chr 5:139,037,819...139,047,568
JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,974,029...135,979,705
Ensembl chr 5:135,974,034...135,979,603
JBrowse link
G Nfyc nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,336,802...134,405,372
Ensembl chr 5:134,336,808...134,405,377
JBrowse link
G Nt5c1a 5'-nucleotidase, cytosolic IA ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,473,107...135,494,400
Ensembl chr 5:135,473,231...135,499,338
JBrowse link
G Oscp1 organic solute carrier partner 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,334,552...138,365,220
Ensembl chr 5:138,333,893...138,366,822
JBrowse link
G Oxct2b 3-oxoacid CoA transferase 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,396,632...135,398,386 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659
JBrowse link
G Pabpc4 poly(A) binding protein, cytoplasmic 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,563,142...135,578,985
Ensembl chr 5:135,563,562...135,578,979
JBrowse link
G Phc2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,000,604...141,099,268
Ensembl chr 5:141,050,842...141,099,268
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
JBrowse link
G Plk3 polo-like kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,910,391...136,913,371
Ensembl chr 5:136,910,391...136,913,371
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,023,077...133,026,899
Ensembl chr 5:133,023,121...133,026,933
JBrowse link
G Ppie peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,406,177...135,419,511
Ensembl chr 5:135,406,176...135,419,235
JBrowse link
G Ppih peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,906,324...132,924,341
Ensembl chr 5:132,906,328...132,924,267
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G Psmb2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,970,564...139,002,715
Ensembl chr 5:138,970,533...139,021,137
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
JBrowse link
G RGD1305347 similar to RIKEN cDNA 2610528J11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,048,687...132,051,925
Ensembl chr 5:132,048,773...132,051,925
JBrowse link
G RGD1559909 RGD1559909 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929
JBrowse link
G RGD1560436 similar to hypothetical protein FLJ20508 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,198,688...137,205,912
Ensembl chr 5:137,198,720...137,204,026
JBrowse link
G RGD1563072 similar to hypothetical protein FLJ38984 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,900,045...138,905,267
Ensembl chr 5:138,900,581...138,905,273
JBrowse link
G RGD1564804 similar to chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,837,135...132,841,744
Ensembl chr 5:132,836,506...132,841,762
JBrowse link
G Rhbdl2 rhomboid like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,037,489...136,086,542
Ensembl chr 5:136,037,305...136,081,969
JBrowse link
G Rimkla ribosomal modification protein rimK-like family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,072,179...133,098,840
Ensembl chr 5:133,073,960...133,098,792
JBrowse link
G Rims3 regulating synaptic membrane exocytosis 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,429,092...134,468,935
Ensembl chr 5:134,435,829...134,640,489
JBrowse link
G Rlf RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,711,612...134,767,274
Ensembl chr 5:134,711,619...134,767,257
JBrowse link
G Rnf19b ring finger protein 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,406,085...141,431,380
Ensembl chr 5:141,406,118...141,431,380
JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
JBrowse link
G Rragc Ras-related GTP binding C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767
JBrowse link
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,494,352...141,535,752
Ensembl chr 5:141,494,353...141,535,525
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361
JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472
JBrowse link
G Sh3d21 SH3 domain containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,429,180...138,444,540
Ensembl chr 5:138,429,180...138,444,407
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,117,634...134,122,105 JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,530,542...134,576,938
Ensembl chr 5:134,530,543...134,576,938
JBrowse link
G Smim12 small integral membrane protein 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,569,367...139,573,276
Ensembl chr 5:139,569,391...139,574,320
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G Stk40 serine/threonine kinase 40 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,380,049...138,417,802
Ensembl chr 5:138,381,159...138,417,796
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,619,665...138,623,301
Ensembl chr 5:138,619,667...138,623,204
JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292
JBrowse link
G Tfap2e transcription factor AP-2 epsilon ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,009,447...139,030,695
Ensembl chr 5:139,009,453...139,031,108
JBrowse link
G Thrap3 thyroid hormone receptor associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,445,284...138,487,544
Ensembl chr 5:138,445,295...138,487,477
JBrowse link
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592
JBrowse link
G Tmco2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,664,692...134,669,467
Ensembl chr 5:134,664,692...134,669,291
JBrowse link
G Tmem125 transmembrane protein 125 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,063,162...132,064,566
Ensembl chr 5:132,059,554...132,079,297
Ensembl chr 5:132,059,554...132,079,297
JBrowse link
G Tmem35b transmembrane protein 35B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,446,317...139,449,947
Ensembl chr 5:139,444,399...139,449,947
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
JBrowse link
G Tmem54 transmembrane protein 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,449,191...141,455,683
Ensembl chr 5:141,449,191...141,455,682
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,270,485...130,274,050
Ensembl chr 5:130,262,319...130,274,050
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
JBrowse link
G Trim62 tripartite motif-containing 62 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,230,830...141,260,629 JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
G Utp11 UTP11, small subunit processome component ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,931,279...136,946,164
Ensembl chr 5:136,931,008...136,946,191
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C
ClinVar Annotator: match by OMIM:608323
OMIM
ClinVar
PMID:9536098 PMID:14606043 PMID:16429158 PMID:17576681 PMID:19561293 More... NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
G Ybx1 Y box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,882,137...132,899,108
Ensembl chr 5:132,882,145...132,898,862
JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
JBrowse link
G Zfp362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,119,073...141,153,304
Ensembl chr 5:141,119,898...141,156,716
JBrowse link
G Zfp69 zinc finger protein 69 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,502,002...134,516,428 JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:132,780,259...132,784,954
Ensembl chr 5:132,780,181...132,785,000
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link
G Zmym1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,364,788...139,381,891
Ensembl chr 5:139,364,789...139,381,873
JBrowse link
G Zmym4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,146,665...139,264,398
Ensembl chr 5:139,146,665...139,264,421
JBrowse link
G Zmym6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,396,374...139,444,357
Ensembl chr 5:139,396,727...139,444,279
JBrowse link
G Zmynd12 zinc finger, MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:133,026,917...133,059,985
Ensembl chr 5:133,027,009...133,059,995
JBrowse link
G Zscan20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:140,926,596...140,956,285
Ensembl chr 5:140,930,689...140,956,336
JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:130,346,519...130,463,791
Ensembl chr 5:130,343,034...130,463,784
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name Qualifiers 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 dominant intermediate d
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D
OMIM
ClinVar
PMID:7505151 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate E
ClinVar Annotator: match by OMIM:614455
OMIM
ClinVar
PMID:6054293 PMID:22187985 PMID:22961558 PMID:25741868 PMID:28492532 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate F OMIM
ClinVar
PMID:23434117 PMID:25741868 PMID:27549087 PMID:27908631 PMID:28492532 More... NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Qualifiers 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, dominant intermediate G
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
OMIM
ClinVar
PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
Charcot-Marie-Tooth disease intermediate type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:17932099 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G RGD1309139 similar to CG5435-PA ISS MouseDO NCBI chr 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate 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 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: RI-CMTA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate A
ClinVar Annotator: match by OMIM:608340
OMIM
ClinVar
PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 PMID:17039978 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate B
ClinVar Annotator: match by OMIM:613641
OMIM
ClinVar
PMID:20920668 PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c
ClinVar Annotator: match by OMIM:615376
OMIM
ClinVar
PMID:23777631 PMID:23844677 PMID:25741868 PMID:28492532 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a1 cytochrome c oxidase subunit 6A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate d ClinVar
OMIM
PMID:25152455 PMID:26302975 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041
JBrowse link
Charcot-Marie-Tooth disease type 1 term browser
Symbol Object Name Qualifiers 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 Gars glycyl-tRNA synthetase 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 Qualifiers 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 Qualifiers 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: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
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 Qualifiers 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 Qualifiers 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 Qualifiers 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:15241803 PMID:25741868 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 Qualifiers 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 Qualifiers 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
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Qualifiers 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 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:9536098 PMID:17576681 PMID:20045102 PMID:22009580 PMID:22206013 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:1674639 PMID:5964029 PMID:9536098 PMID:11479539 PMID:11916958 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:16199547 PMID:22522442 PMID:25274842 PMID:25741868 PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:1839274 PMID:1849984 PMID:2007407 PMID:2270059 PMID:2280636 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:9536098 PMID:17576681 PMID:25488817 PMID:25527630 PMID:25741868 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:173,989,491...173,999,567
Ensembl chr 2:173,989,856...173,997,377
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
JBrowse link
G Tfg trafficking from ER to golgi regulator ISS
ISO
OMIM:118230 | OMIM:604484
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type
MouseDO
ClinVar
PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A1
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
OMIM
ClinVar
PMID:9409358 PMID:11389829 PMID:25741868 PMID:28166811 PMID:28492532 More... RGD:12738406 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15064763 PMID:16043786 PMID:16437557 PMID:16714318 PMID:16762064 More... RGD:12738379 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
OMIM
ClinVar
PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11148244 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Qualifiers</