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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Charcot-Marie-Tooth disease type 2
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Accession:DOID:0050539 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type II;   Charcot-Marie-Tooth, type 2;   HMSN II;   HMSN type II;   hereditary motor and sensory neuropathy Guadalajara neuronal type;   hereditary motor and sensory neuropathy Okinawa type;   hereditary motor and sensory neuropathy type 2;   hereditary motor and sensory neuropathy type II
 xref: GARD:12431;   ICD9CM:356.0;   ORDO:64746
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:20045102, PMID:22009580, PMID:22206013, PMID:23806086, PMID:24088041, PMID:25025039, PMID:25741868, PMID:25783436, PMID:25817015, PMID:25904691, PMID:26032230, PMID:26257172, PMID:26752306, PMID:27549087, PMID:28492532, PMID:28493438, PMID:29653220, PMID:30124830, PMID:30311386, PMID:30373780 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
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 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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:14981520, PMID:15732094, PMID:16427281, PMID:16574104, PMID:17387721, PMID:17486577, PMID:18057387, PMID:18585921, PMID:18790819, PMID:19041432, PMID:19226263, PMID:19396477, PMID:20598714, PMID:21750110, PMID:21957196, PMID:22045697, PMID:22474068, PMID:23142943, PMID:23553728, PMID:23564749, PMID:23963299, PMID:24024128, PMID:24345054, PMID:24604904, PMID:25219579, PMID:25454168, PMID:25487175, PMID:25588603, PMID:25741868, PMID:26282322, PMID:26467025, PMID:26815532, PMID:27868354, PMID:28492532, PMID:28832565, PMID:29336362, PMID:29482223 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,251,510...43,271,865
Ensembl chr19:43,217,161...43,275,287
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,217,199...43,246,196
Ensembl chr19:43,217,161...43,275,287
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 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:43,338,146...43,357,826
Ensembl chr19:43,338,166...43,357,822
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:10732809, PMID:12690580, PMID:16014653, PMID:17035524, PMID:17101916, PMID:17544401, PMID:17595294, PMID:21737751, PMID:23279345, PMID:24078732, PMID:24088041, PMID:24604904, PMID:24669931, PMID:25058219, PMID:25168514, PMID:25356970, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26138142, PMID:26244500, PMID:26392352, PMID:26467025, PMID:26503042, PMID:26633545, PMID:26752306, PMID:27008886, PMID:27582484, PMID:27790088, PMID:28492532, PMID:28594869, PMID:28708278, PMID:29648643, PMID:32181591 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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 chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr19:40,855,537...40,905,007
Ensembl chr19:40,855,433...40,904,121
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 2:188,051,657...188,080,280
Ensembl chr 2:188,052,236...188,080,301
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:18334619, PMID:24033266, PMID:24469107, PMID:25025039, PMID:25326637, PMID:25741868, PMID:28492532, PMID:29590070, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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 2:187,911,530...187,914,930
Ensembl chr 2:187,911,533...187,915,596
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, PMID:2526018, PMID:8619549, PMID:9106535, PMID:10080180, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10739764, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10908904, PMID:10939567, PMID:10980552, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11102973, PMID:11136544, PMID:11180602, PMID:11231979, PMID:11344241, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11792810, PMID:11799477, PMID:11897440, PMID:11901143, PMID:11973618, PMID:12015247, PMID:12032588, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12376891, PMID:12467734, PMID:12467752, PMID:12628721, PMID:12629077, PMID:12647844, PMID:12649505, PMID:12673789, PMID:12702809, PMID:12714972, PMID:12716787, PMID:12768443, PMID:12783988, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14569138, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14659775, PMID:14675861, PMID:14684700, PMID:14749366, PMID:15032975, PMID:15053843, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15184648, PMID:15205219, PMID:15219508, PMID:15298354, PMID:15317753, PMID:15342704, PMID:15372542, PMID:15475483, PMID:15531479, PMID:15539782, PMID:15678000, PMID:15720451, PMID:15724423, PMID:15744034, PMID:15770669, PMID:15793835, PMID:15832002, PMID:15919811, PMID:15961312, PMID:15965218, PMID:15972724, PMID:15982412, PMID:15998779, PMID:16008174, PMID:16061563, PMID:16126733, PMID:16156025, PMID:16174718, PMID:16181372, PMID:16218190, PMID:16266469, PMID:16278265, PMID:16364671, PMID:16386954, PMID:16407522, PMID:16415042, PMID:16478798, PMID:16537768, PMID:16585054, PMID:16630578, PMID:16671095, PMID:16715312, PMID:16738054, PMID:16772334, PMID:16809772, PMID:16891232, PMID:16965317, PMID:16990647, PMID:17076270, PMID:17107595, PMID:17136397, PMID:17250669, PMID:17250699, PMID:17334235, PMID:17347251, PMID:17377071, PMID:17386158, PMID:17459035, PMID:17469202, PMID:17536044, PMID:17599607, PMID:17612587, PMID:17711925, PMID:17848409, PMID:17987279, PMID:18031519, PMID:18035086, PMID:18035816, PMID:18182166, PMID:18348272, PMID:18396274, PMID:18414213, PMID:18478590, PMID:18480576, PMID:18502446, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18585512, PMID:18604166, PMID:18606848, PMID:18646565, PMID:18728124, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19011997, PMID:19084400, PMID:19095983, PMID:19167105, PMID:19172989, PMID:19201734, PMID:19220582, PMID:19318026, PMID:19328042, PMID:19401371, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19446900, PMID:19524666, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19768759, PMID:19842191, PMID:19859838, PMID:19875404, PMID:19875478, PMID:19882644, PMID:19933576, PMID:20041886, PMID:20074070, PMID:20092787, PMID:20127487, PMID:20130076, PMID:20155465, PMID:20160190, PMID:20307303, PMID:20376791, PMID:20497714, PMID:20498703, PMID:20576434, PMID:20625965, PMID:20627339, PMID:20662858, PMID:20709679, PMID:20848652, PMID:20886652, PMID:20980393, PMID:21085127, PMID:21151901, PMID:21173262, PMID:21179469, PMID:21315846, PMID:21346069, PMID:21483645, PMID:21520333, PMID:21535365, PMID:21632249, PMID:21653823, PMID:21818408, PMID:21831885, PMID:21840938, PMID:21846512, PMID:21875900, PMID:21883346, PMID:21922471, PMID:21970986, PMID:21980471, PMID:22071332, PMID:22090424, PMID:22103509, PMID:22148005, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22326558, PMID:22331516, PMID:22355414, PMID:22464770, PMID:22491857, PMID:22526018, PMID:22570643, PMID:22611635, PMID:22685055, PMID:22700598, PMID:22883396, PMID:22893709, PMID:22918509, PMID:23029315, PMID:23062543, PMID:23077635, PMID:23141186, PMID:23142632, PMID:23150259, PMID:23183350, PMID:23313286, PMID:23328570, PMID:23349452, PMID:23360689, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23582089, PMID:23644458, PMID:23666920, PMID:23701190, PMID:23702046, PMID:23757202, PMID:23783098, PMID:23785128, PMID:23804595, PMID:23853504, PMID:23861362, PMID:23969228, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24058181, PMID:24080738, PMID:24169522, PMID:24237251, PMID:24305605, PMID:24349489, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24508248, PMID:24623722, PMID:24642510, PMID:24656463, PMID:24721642, PMID:24768879, PMID:24794538, PMID:24806962, PMID:24846508, PMID:24861648, PMID:24915601, PMID:24943589, PMID:24990833, PMID:25025039, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25327215, PMID:25351510, PMID:25367549, PMID:25448463, PMID:25469153, PMID:25524705, PMID:25567453, PMID:25572245, PMID:25617006, PMID:25637381, PMID:25656816, PMID:25741868, PMID:25819867, PMID:25823658, PMID:25873806, PMID:25885670, PMID:25886484, PMID:25946677, PMID:25948554, PMID:25982065, PMID:25987458, PMID:25988045, PMID:25996830, PMID:26034236, PMID:26084686, PMID:26098624, PMID:26165385, PMID:26183555, PMID:26199943, PMID:26323789, PMID:26332594, PMID:26383259, PMID:26383716, PMID:26404900, PMID:26443318, PMID:26467025, PMID:26498160, PMID:26567375, PMID:26573435, PMID:26602028, PMID:26620845, PMID:26662654, PMID:26752647, PMID:26899768, PMID:26900797, PMID:27000522, PMID:27034135, PMID:27066507, PMID:27153395, PMID:27199538, PMID:27220833, PMID:27234031, PMID:27363342, PMID:27373676, PMID:27374873, PMID:27405450, PMID:27421120, PMID:27447704, PMID:27506821, PMID:27532257, PMID:27534416, PMID:27585670, PMID:27600705, PMID:27633507, PMID:27650965, PMID:27673727, PMID:27723096, PMID:27813223, PMID:27841971, PMID:27854218, PMID:27876398, PMID:27884249, PMID:27886618, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28125586, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28620495, PMID:28641778, PMID:28663758, PMID:28679633, PMID:28686329, PMID:28688748, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28798025, PMID:28807990, PMID:28874324, PMID:28878402, PMID:29047356, PMID:29057633, PMID:29078011, PMID:29095976, PMID:29121657, PMID:29149195, PMID:29211919, PMID:29237675, PMID:29237690, PMID:29250285, PMID:29367541, PMID:29382405, PMID:29432544, PMID:29511324, PMID:29676528, PMID:29693488, PMID:29753763, PMID:29770364, PMID:29791652, PMID:29893365, PMID:29907918, PMID:29943882, PMID:29952368, PMID:29970176, PMID:30007954, PMID:30012837, PMID:30055862, PMID:30083363, PMID:30123186, PMID:30137533, PMID:30165862, PMID:30311386, PMID:30402260, PMID:30420677, PMID:30488537, PMID:30765282, PMID:30901896, PMID:31296869, PMID:31383942, PMID:31847799 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:25488817, PMID:25527630, PMID:25741868, PMID:26257172, PMID:28492532, PMID:30039206, PMID:30800049 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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 2:187,893,678...187,902,546
Ensembl chr 2:187,893,368...187,898,310
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:10732809, PMID:11181170, PMID:12601114, PMID:15064763, PMID:15549395, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16762064, PMID:16835246, PMID:16930284, PMID:17215403, PMID:17296794, PMID:17309650, PMID:17437620, PMID:17444508, PMID:17959936, PMID:18316077, PMID:18425620, PMID:18458227, PMID:18602827, PMID:18946002, PMID:18957892, PMID:18996695, PMID:19350291, PMID:19812251, PMID:19889647, PMID:19909486, PMID:20008656, PMID:20301684, PMID:20335458, PMID:20350294, PMID:20418531, PMID:20482598, PMID:20587496, PMID:20951041, PMID:21149811, PMID:21258814, PMID:21285398, PMID:21326314, PMID:21508331, PMID:21519004, PMID:21531138, PMID:21576112, PMID:21601224, PMID:21647385, PMID:21707411, PMID:21715711, PMID:21772703, PMID:21840889, PMID:22189565, PMID:22206013, PMID:22442078, PMID:22492563, PMID:22494076, PMID:22556188, PMID:22653593, PMID:22762946, PMID:22851605, PMID:22926664, PMID:22957060, PMID:23147504, PMID:23456260, PMID:23615052, PMID:23733358, PMID:23806086, PMID:24018473, PMID:24033266, PMID:24053775, PMID:24078732, PMID:24088041, PMID:24126688, PMID:24444136, PMID:24450158, PMID:24473995, PMID:24530046, PMID:24604904, PMID:24627108, PMID:24819634, PMID:24862862, PMID:24863639, PMID:24957169, PMID:25025039, PMID:25403865, PMID:25448007, PMID:25614874, PMID:25741868, PMID:25802885, PMID:25957633, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26230519, PMID:26257172, PMID:26306937, PMID:26307494, PMID:26316991, PMID:26365381, PMID:26378787, PMID:26382835, PMID:26392352, PMID:26454100, PMID:26467025, PMID:26633545, PMID:26686600, PMID:26752306, PMID:26801520, PMID:26916081, PMID:26930221, PMID:26955893, PMID:26956144, PMID:26968897, PMID:26989944, PMID:27025386, PMID:27027447, PMID:27088055, PMID:27100445, PMID:27265096, PMID:27549087, PMID:27582484, PMID:27862672, PMID:27863451, PMID:28063088, PMID:28215760, PMID:28251916, PMID:28286897, PMID:28380071, PMID:28414270, PMID:28492532, PMID:28660751, PMID:29341354, PMID:29358271, PMID:29361379, PMID:29473246, PMID:29898954, PMID:30158064, PMID:30311386, PMID:30882371, PMID:31188717, PMID:32963807, PMID:198122151 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
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 2:187,903,301...187,909,398
Ensembl chr 2:187,903,307...187,909,394
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
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 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
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 2:188,026,531...188,027,685 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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 chr19:43,392,071...43,429,582
Ensembl chr19:43,392,085...43,429,580
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 2:187,772,013...187,786,829
Ensembl chr 2:187,774,062...187,786,731
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 2:187,951,316...187,960,067
Ensembl chr 2:187,951,344...187,960,063
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 chr19:43,273,251...43,324,265
Ensembl chr19:43,274,493...43,290,363
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:22883144, PMID:23479643, PMID:23553329, PMID:23806086, PMID:24088041, PMID:24613659, PMID:25098539, PMID:25725944, PMID:25741868, PMID:26257172, PMID:27492651, PMID:28196470, PMID:28492532, PMID:29971521, PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
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 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 2:187,915,701...187,931,035
Ensembl chr 2:187,915,751...187,931,035
JBrowse link
Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name 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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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:10463355, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:21964829, PMID:22065612, PMID:22291064, PMID:22419508, PMID:22526352, PMID:22675077, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25802885, PMID:25900305, PMID:26048687, PMID:26110311, PMID:26170305, PMID:26249260, PMID:26392352, PMID:26467025, PMID:26948711, PMID:27066566, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540, PMID:29770609, PMID:30311386, PMID:31041394 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC ClinVar
OMIM
PMID:27040688 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name 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 Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by OMIM:606595
OMIM
ClinVar
PMID:11528513, PMID:15122254, PMID:16087758, PMID:16155736, PMID:16215937, PMID:17623484, PMID:17881652, PMID:18325928, PMID:18344398, PMID:18832141, PMID:20178975, PMID:20660910, PMID:20870250, PMID:21611841, PMID:21785432, PMID:21892769, PMID:21983720, PMID:22031878, PMID:22057845, PMID:22176143, PMID:22521462, PMID:22734906, PMID:23643870, PMID:23728742, PMID:23948568, PMID:23963299, PMID:25025039, PMID:25088881, PMID:25220807, PMID:25429913, PMID:25547330, PMID:25614874, PMID:25741868, PMID:25965061, PMID:26467025, PMID:26675522, PMID:26986878, PMID:26989944, PMID:27816334, PMID:27830184, PMID:27862672, PMID:28000086, PMID:28144995, PMID:28379183, PMID:28492532, PMID:28595321, PMID:28702508, PMID:28797631, PMID:29381233, PMID:30311386 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name 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 5:2,042,991...2,059,357
Ensembl chr 5:2,042,991...2,059,351
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, 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, PMID:12707075, PMID:14561495, PMID:15805163, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18231710, PMID:18492089, PMID:18504680, PMID:18991200, PMID:19089472, PMID:19500985, PMID:19782751, PMID:20232219, PMID:20685671, PMID:20849849, PMID:21199105, PMID:21212451, PMID:21681106, PMID:21753178, PMID:21840889, PMID:21890626, PMID:22971097, PMID:23456260, PMID:23628762, PMID:23963299, PMID:25231362, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26525999, PMID:28220846, PMID:28492532, PMID:30311386, PMID:18492089, PMID:20232219 RGD:12738397, RGD:12738396 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K OMIM
ClinVar
PMID:15805163, PMID:20685671, PMID:21681106, PMID:25168384 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163, PMID:20685671, PMID:21681106 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163, PMID:20685671, PMID:21681106 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
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 5:29,798,845...29,812,777 JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name 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:20538880, PMID:21985219, PMID:25741868, PMID:26467025, PMID:26718575, PMID:26986878, PMID:28251916, PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
ClinVar Annotator: match by OMIM:613287
OMIM
ClinVar
PMID:20045102, PMID:22009580, PMID:22206013, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752306, PMID:28492532 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
Charcot-Marie-Tooth disease axonal type 2O term browser
Symbol Object Name 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:9781046, PMID:15826937, PMID:16519653, PMID:18414213, PMID:19074350, PMID:21076407, PMID:21820100, PMID:22368300, PMID:22459677, PMID:22847149, PMID:23603762, PMID:24033266, PMID:24136616, PMID:24307404, PMID:25484024, PMID:25497877, PMID:25512093, PMID:25609763, PMID:25700176, PMID:25741868, PMID:26100331, PMID:26344056, PMID:26378787, PMID:26392352, PMID:26395554, PMID:26467025, PMID:26633542, PMID:26795593, PMID:26846447, PMID:27549087, PMID:28193117, PMID:28196890, PMID:28263302, PMID:28325891, PMID:28492532, PMID:28554554, PMID:29243232, PMID:29653220, PMID:30122514, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name 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:14871449, PMID:14985381, PMID:15256501, PMID:16941080, PMID:17294338, PMID:20865121, PMID:21840889, PMID:22012984, PMID:22781092, PMID:24894446, PMID:25741868, PMID:26392352, PMID:26752306, PMID:26900582, PMID:27164712, PMID:27615052, PMID:27686364, PMID:28286897, PMID:28335037, PMID:28492532, PMID:29341362, PMID:30996334 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name 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:23141294, PMID:25326637, PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name 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:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:18802676, PMID:19157874, PMID:19158098, PMID:22157136, PMID:23449687, PMID:23566544, PMID:23806086, PMID:24088041, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26257172, PMID:27450922, PMID:28492532, PMID:29858556, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name 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 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
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, PMID:28492532, PMID:30311386 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name 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:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name 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 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name 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, PMID:19438933, PMID:20110243, PMID:25299611, PMID:25741868, PMID:26467025, PMID:26556829, PMID:27217339, PMID:28492532, PMID:28554332, PMID:29246610 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name 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:12601114, PMID:25741868, PMID:25741893, PMID:26497905, PMID:26659848, PMID:26912637, PMID:27105897, PMID:27105987, PMID:27329773, PMID:27794525, PMID:28135719, PMID:28334961, PMID:28402445, PMID:28492532, PMID:28581500, PMID:28771897 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name 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:28492532, PMID:29590070, PMID:11389829 RGD:12738406 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name 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 Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
ClinVar
CTD
PMID:11181170, PMID:15064763, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16762064, PMID:16835246, PMID:17296794, PMID:18425620, PMID:18458227, PMID:18946002, PMID:18957892, PMID:19889647, PMID:20008656, PMID:20350294, PMID:20587496, PMID:21258814, PMID:21285398, PMID:21326314, PMID:21508331, PMID:21519004, PMID:21531138, PMID:21576112, PMID:21707411, PMID:21715711, PMID:21840889, PMID:22206013, PMID:22442078, PMID:22492563, PMID:24018473, PMID:24033266, PMID:24088041, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:24957169, PMID:25025039, PMID:25403865, PMID:25448007, PMID:25741868, PMID:25802885, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26306937, PMID:26307494, PMID:26382835, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27582484, PMID:27863451, PMID:28063088, PMID:28251916, PMID:28414270, PMID:28492532, PMID:28660751, PMID:29358271, PMID:29473246, PMID:30158064, PMID:30311386, PMID:31188717, PMID:22206013 RGD:12738379 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name 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, PMID:11181170, PMID:12601114, PMID:15064763, PMID:15136675, PMID:15549395, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16762064, PMID:16835246, PMID:17215403, PMID:17296794, PMID:17309650, PMID:17437620, PMID:18425620, PMID:18458227, PMID:18602827, PMID:18946002, PMID:18957892, PMID:18996695, PMID:19350291, PMID:19812251, PMID:19889647, PMID:20008656, PMID:20301684, PMID:20335458, PMID:20350294, PMID:20418531, PMID:20530328, PMID:20587496, PMID:20951041, PMID:21149811, PMID:21258814, PMID:21285398, PMID:21326314, PMID:21508331, PMID:21519004, PMID:21531138, PMID:21576112, PMID:21707411, PMID:21715711, PMID:21772703, PMID:21840889, PMID:21987543, PMID:22206013, PMID:22442078, PMID:22492563, PMID:22851605, PMID:22926664, PMID:23806086, PMID:24018473, PMID:24033266, PMID:24053775, PMID:24088041, PMID:24126688, PMID:24450158, PMID:24473995, PMID:24604904, PMID:24627108, PMID:24819634, PMID:24862862, PMID:24863639, PMID:24957169, PMID:25025039, PMID:25403865, PMID:25448007, PMID:25614874, PMID:25741868, PMID:25802885, PMID:25957633, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26230519, PMID:26257172, PMID:26306937, PMID:26307494, PMID:26378787, PMID:26382835, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26686600, PMID:26801520, PMID:27025386, PMID:27027447, PMID:27088055, PMID:27265096, PMID:27549087, PMID:27582484, PMID:27862672, PMID:27863451, PMID:28063088, PMID:28215760, PMID:28251916, PMID:28286897, PMID:28380071, PMID:28414270, PMID:28492532, PMID:28660751, PMID:29341354, PMID:29358271, PMID:29361379, PMID:29473246, PMID:29898954, PMID:30158064, PMID:30311386, PMID:30882371, PMID:31188717, PMID:32963807 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
ClinVar
OMIM
PMID:11181170, PMID:15064763, PMID:15549395, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16835246, PMID:18425620, PMID:18458227, PMID:18946002, PMID:18957892, PMID:19812251, PMID:20008656, PMID:20350294, PMID:21326314, PMID:21531138, PMID:21715711, PMID:21840889, PMID:22492563, PMID:23806086, PMID:24018473, PMID:24033266, PMID:24088041, PMID:24126688, PMID:24957169, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26257172, PMID:26306937, PMID:26307494, PMID:26382835, PMID:26633545, PMID:28251916, PMID:28414270, PMID:28492532, PMID:28660751, PMID:29358271, PMID:30158064, PMID:30311386, PMID:32214227 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 4:119,572,669...119,626,852 JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:600882
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b
ClinVar
OMIM
PMID:10636124, PMID:11094113, PMID:12545426, PMID:15455439, PMID:17060578, PMID:18272684, PMID:18501189, PMID:19531583, PMID:19651702, PMID:20028791, PMID:21151572, PMID:22971099, PMID:23179371, PMID:23188822, PMID:23458836, PMID:24344282, PMID:24498653, PMID:24521780, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26791407, PMID:27462242, PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar
OMIM
PMID:10612827, PMID:10655060, PMID:10739764, PMID:10939567, PMID:11503164, PMID:11799477, PMID:12032588, PMID:12467734, PMID:12629077, PMID:12649505, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14684700, PMID:14749366, PMID:15140538, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15744034, PMID:15998779, PMID:16174718, PMID:16440304, PMID:17274801, PMID:17347251, PMID:17377071, PMID:17536044, PMID:17711925, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18564364, PMID:18795223, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:20848652, PMID:20980393, PMID:21520333, PMID:21632249, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22331516, PMID:22464770, PMID:22883396, PMID:22918509, PMID:23183350, PMID:23328570, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25637381, PMID:25741868, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29791652, PMID:30165862, PMID:30311386, PMID:14607793 RGD:1358482 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25488817, PMID:25741868, PMID:28492532, PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar
PMID:11112660, PMID:25728773, PMID:25741868, PMID:27066567, PMID:28492532, PMID:30039206 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
ClinVar Annotator: match by OMIM:601472
OMIM
ClinVar
PMID:8872480, PMID:9879677, PMID:10732809, PMID:12690580, PMID:16534118, PMID:17035524, PMID:17101916, PMID:17544401, PMID:17595294, PMID:19329989, PMID:21737751, PMID:24088041, PMID:24669931, PMID:25168514, PMID:25326637, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26138142, PMID:26392352, PMID:26467025, PMID:26503042, PMID:26633545, PMID:27008886, PMID:27582484, PMID:27790088, PMID:28160950, PMID:28492532, PMID:28594869, PMID:29648643, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD ClinVar
OMIM
PMID:29499166 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E
ClinVar Annotator: match by OMIM:607684
OMIM
ClinVar
PMID:10841809, PMID:11220745, PMID:12393795, PMID:12477167, PMID:12481988, PMID:12566280, PMID:14733962, PMID:15111691, PMID:16452125, PMID:16619203, PMID:16930284, PMID:17052987, PMID:17620486, PMID:17881652, PMID:19158810, PMID:19286384, PMID:20039262, PMID:21149811, PMID:21168446, PMID:21493625, PMID:21840889, PMID:22155564, PMID:22206013, PMID:22288874, PMID:22765307, PMID:23618875, PMID:24078732, PMID:24887401, PMID:25264603, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:25802885, PMID:25877835, PMID:26109717, PMID:26392352, PMID:26467025, PMID:26645395, PMID:27206872, PMID:27549087, PMID:28492532, PMID:28501821, PMID:30311386, PMID:30373780 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737, PMID:9371959, PMID:9712007, PMID:21252112, PMID:21692910, PMID:25741868, PMID:26467025, PMID:28333917, PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE
ClinVar
OMIM
PMID:20074988, PMID:22508010, PMID:23714749, PMID:24190800, PMID:25129007, PMID:25741868, PMID:25861990, PMID:26437932, PMID:26741492, PMID:27536553, PMID:28492532, PMID:28673863, PMID:29282788, PMID:30298599 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I
ClinVar Annotator: match by OMIM:607677
OMIM
ClinVar
PMID:3467805, PMID:7506095, PMID:7527371, PMID:8664899, PMID:9187667, PMID:9452091, PMID:9595994, PMID:10071056, PMID:10214757, PMID:10329755, PMID:10737979, PMID:10764043, PMID:10923043, PMID:11080237, PMID:11545686, PMID:11935267, PMID:12207153, PMID:12805115, PMID:12845552, PMID:12911457, PMID:12948789, PMID:12953275, PMID:14638973, PMID:15094849, PMID:15159512, PMID:15241803, PMID:15249646, PMID:15377707, PMID:16279991, PMID:16775239, PMID:18337304, PMID:19629567, PMID:20385006, PMID:20461396, PMID:21149811, PMID:22433810, PMID:24053775, PMID:24444136, PMID:25326637, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26310628, PMID:26467025, PMID:27639257, PMID:28286897, PMID:28492532, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
ClinVar Annotator: match by OMIM:607736
OMIM
ClinVar
PMID:7527371, PMID:8664899, PMID:9187667, PMID:9452091, PMID:10071056, PMID:10329755, PMID:10737979, PMID:10764043, PMID:10923043, PMID:11080237, PMID:11545686, PMID:12207153, PMID:12402337, PMID:12911457, PMID:12948789, PMID:12953275, PMID:15094849, PMID:15159512, PMID:15241803, PMID:15326256, PMID:15377707, PMID:16279991, PMID:16775239, PMID:17663472, PMID:18337304, PMID:19629567, PMID:20461396, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26467025, PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R
ClinVar Annotator: match by OMIM:615490
OMIM
ClinVar
PMID:23562820, PMID:23806086, PMID:24088041, PMID:25893792, PMID:26257172, PMID:28492532 NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228
JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
OMIM
ClinVar
PMID:25125609, PMID:25878907, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w ClinVar
OMIM
PMID:22930593, PMID:25741868, PMID:26072516, PMID:27353947, PMID:28492532, PMID:29235198, PMID:29790872 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:15064763 RGD:1601408 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name 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: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590
OMIM
ClinVar
PMID:1517763, PMID:15122253, PMID:20538880, PMID:21985219, PMID:25741868, PMID:26467025, PMID:26718575, PMID:26986878, PMID:28251916, PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type
ClinVar Annotator: match by OMIM:604484
OMIM
ClinVar
PMID:22883144, PMID:23479643, PMID:23553329, PMID:23806086, PMID:24088041, PMID:24613659, PMID:25098539, PMID:25725944, PMID:25741868, PMID:26257172, PMID:27492651, PMID:28196470, PMID:28492532, PMID:29971521, PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth Disease, Type 2A + 2
              Charcot-Marie-Tooth disease axonal type 2C 3
              Charcot-Marie-Tooth disease axonal type 2CC 1
              Charcot-Marie-Tooth disease axonal type 2F 1
              Charcot-Marie-Tooth disease axonal type 2H 0
              Charcot-Marie-Tooth disease axonal type 2K 6
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 1
              Charcot-Marie-Tooth disease axonal type 2O 2
              Charcot-Marie-Tooth disease axonal type 2P 1
              Charcot-Marie-Tooth disease axonal type 2Q 1
              Charcot-Marie-Tooth disease axonal type 2S 1
              Charcot-Marie-Tooth disease axonal type 2T 2
              Charcot-Marie-Tooth disease axonal type 2U 1
              Charcot-Marie-Tooth disease axonal type 2V 1
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2B 3
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 2
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2DD 1
              Charcot-Marie-Tooth disease type 2E 2
              Charcot-Marie-Tooth disease type 2EE 1
              Charcot-Marie-Tooth disease type 2I 1
              Charcot-Marie-Tooth disease type 2J 1
              Charcot-Marie-Tooth disease type 2R 1
              Charcot-Marie-Tooth disease type 2Y 1
              Charcot-Marie-Tooth disease, axonal type 2W 1
              Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
              distal hereditary motor neuronopathy type 2A 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth Disease, Type 2A + 2
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2H 0
                    Charcot-Marie-Tooth disease axonal type 2K 6
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 1
                    Charcot-Marie-Tooth disease axonal type 2O 2
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2S 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 1
                    Charcot-Marie-Tooth disease axonal type 2V 1
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 2
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 2
                    Charcot-Marie-Tooth disease type 2EE 1
                    Charcot-Marie-Tooth disease type 2I 1
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2R 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
                    distal hereditary motor neuronopathy type 2A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.