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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, Type VII, Motor and Sensory Neuropathy;   neuropathic muscular atrophy
 narrow_synonym: sensory neuropathy with spastic paraplegia
 primary_id: MESH:D015417
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia ClinVar NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:9781046, PMID:15826937, PMID:16519653, PMID:19074350, PMID:21076407, PMID:21820100, PMID:22368300, PMID:22459677, PMID:22847149, PMID:23603762, PMID:24307404, PMID:25484024, PMID:25497877, PMID:25512093, PMID:25609763, PMID:25741868, PMID:26395554, PMID:26795593, PMID:27549087, PMID:28193117, PMID:28263302, PMID:28325891, PMID:28492532, PMID:28554554, PMID:29243232 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Peripheral motor neuropathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17701891 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Prx periaxin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
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 chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISS MouseDO NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Peripheral motor neuropathy ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
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, PMID:20350831, PMID:23700088, PMID:24136862, PMID:24749080, PMID:25159689, PMID:25201222, PMID:25205859, PMID:25741868, PMID:26190011, PMID:27528516, PMID:27629047, PMID:28081242, PMID:28492532, PMID:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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, PMID:10767344, PMID:11555634, PMID:14974078, PMID:17905308, PMID:18612766, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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, PMID:9472033, PMID:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:14974078, PMID:17325280, PMID:20301447, PMID:21465523, PMID:21990100, PMID:22008564, PMID:23352163, PMID:23572185, PMID:25741868, PMID:25800479, PMID:25851898, PMID:26408048, PMID:26467025, PMID:26587300, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23188138, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26285675, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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, PMID:25025039, PMID:25741868, PMID:25783436, PMID:25817015, PMID:25904691, PMID:26032230, PMID:26257172, PMID:26752306, PMID:27549087, PMID:28492532, PMID:29653220 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280, PMID:24078732 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029
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 chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679, PMID:25741868 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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, PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19085932, PMID:20605452, PMID:21361913, PMID:21676617, PMID:21898660, PMID:22734908, PMID:25208129, PMID:25273835, PMID:25326635, PMID:25728519, PMID:25741868, PMID:26545904, PMID:27321750, PMID:27443559, PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885, PMID:28492532 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
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 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,700,539...77,025,463 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 chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
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, PMID:24627108, PMID:25025039, PMID:25741868, PMID:28492532 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:70,555,953...70,571,433
Ensembl chr 7:70,556,019...70,572,614
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, PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
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, PMID:20529869, PMID:20817456, PMID:21762456, PMID:22091729, PMID:22613877, PMID:24016602, PMID:25025039, PMID:25492887, PMID:25501959, PMID:27328317, PMID:28492532, PMID:28676641 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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, PMID:24727570, PMID:25326637 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:18414213, PMID:21820100, PMID:22847149, PMID:24033266, PMID:24136616, PMID:25025039, PMID:25741868, PMID:26344056, PMID:26378787, PMID:26467025, PMID:28492532 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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, PMID:11523566, PMID:11545686, PMID:12471219, PMID:12609493, PMID:15241803, PMID:15947997, PMID:16198564, PMID:17717711, PMID:20513111, PMID:21149811, PMID:22271166, PMID:22546699, PMID:22734907, PMID:22765307, PMID:25720245, PMID:25741868, PMID:26467025, PMID:27159987, PMID:28492532 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
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, PMID:12687659, PMID:16964593, PMID:17206408, PMID:20301359, PMID:22190446, PMID:22850346, PMID:23515154, PMID:24033266, PMID:25741868, PMID:27065010, PMID:28492532 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
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, PMID:23466821, PMID:23550889, PMID:24078732, PMID:25231362, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:17572665, PMID:19118816, PMID:21705420, PMID:23336365, PMID:23623387, PMID:24033266, PMID:24878229, PMID:25614874, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108, PMID:25025039, PMID:28492532 NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
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, PMID:16014653, PMID:16534118, PMID:17035524, PMID:17101916, PMID:17544401, PMID:17595294, PMID:17663003, PMID:19329989, PMID:21737751, PMID:23279345, PMID:24078732, PMID:24088041, PMID:24604904, PMID:24669931, PMID:25168514, PMID:25420567, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26138142, PMID:26244500, PMID:26467025, PMID:26503042, PMID:26517670, PMID:26633545, PMID:26752306, PMID:27008886, PMID:27582484, PMID:28492532, PMID:28594869, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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:11743580, PMID:12499475, PMID:12566285, PMID:12601710, PMID:12821518, PMID:12843336, PMID:12868504, PMID:14561495, PMID:15019704, PMID:15192818, PMID:15377708, PMID:15469949, PMID:15805163, PMID:15944907, PMID:16172208, PMID:16343542, PMID:17001820, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18062449, PMID:18231710, PMID:18421898, PMID:18492089, PMID:18504680, PMID:18991200, PMID:19500985, PMID:19782751, PMID:20232219, PMID:20685671, PMID:20849849, PMID:21199105, PMID:21322820, PMID:21326314, PMID:21365284, PMID:21692914, PMID:21753178, PMID:21890626, PMID:21965300, PMID:22206013, PMID:22730194, PMID:22971097, PMID:23456260, PMID:23466821, PMID:23628762, PMID:23963299, PMID:24078732, PMID:24627108, PMID:25231362, PMID:25326637, PMID:25337607, PMID:25429913, PMID:25614874, PMID:25741868, PMID:26467025, PMID:26525999, PMID:28220846, PMID:28244113, PMID:28492532, PMID:28495047, PMID:28751717, PMID:29372391, PMID:30311386, PMID:12499475, PMID:24480485 RGD:1358634, RGD:12738398 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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, PMID:8004109, PMID:8162049, PMID:8266101, PMID:8628473, PMID:8698335, PMID:8737658, PMID:8800924, PMID:8816997, PMID:8829637, PMID:8990008, PMID:9018031, PMID:9099841, PMID:9187667, PMID:9272161, PMID:9328258, PMID:9354338, PMID:9361298, PMID:9364054, PMID:9401007, PMID:9452025, PMID:9452099, PMID:9469569, PMID:9469571, PMID:9541114, PMID:9592087, PMID:9600589, PMID:9633821, PMID:9818870, PMID:9854984, PMID:9856562, PMID:9888385, PMID:10093067, PMID:10102421, PMID:10207904, PMID:10220155, PMID:10234007, PMID:10487913, PMID:10521546, PMID:10586227, PMID:10586261, PMID:10586284, PMID:10586291, PMID:10587015, PMID:10639608, PMID:10646523, PMID:10732813, PMID:10737979, PMID:10848620, PMID:10873293, PMID:10894999, PMID:10923043, PMID:10938190, PMID:11030070, PMID:11085599, PMID:11140841, PMID:11180613, PMID:11252295, PMID:11257785, PMID:11271367, PMID:11325342, PMID:11393532, PMID:11404117, PMID:11437164, PMID:11438991, PMID:11545686, PMID:11562788, PMID:11571214, PMID:11723288, PMID:11835375, PMID:11891346, PMID:12111842, PMID:12185164, PMID:12207932, PMID:12325071, PMID:12362307, PMID:12402337, PMID:12460545, PMID:12477701, PMID:12497641, PMID:12536289, PMID:12542510, PMID:12614935, PMID:12707076, PMID:14607795, PMID:14627639, PMID:14663027, PMID:14960772, PMID:14991359, PMID:15006706, PMID:15241803, PMID:15468313, PMID:15574129, PMID:15719046, PMID:15852376, PMID:16096811, PMID:16401743, PMID:16476939, PMID:16688595, PMID:16912585, PMID:16922730, PMID:17100997, PMID:17297706, PMID:17353473, PMID:17620124, PMID:17646144, PMID:17714866, PMID:18254389, PMID:18379723, PMID:18380022, PMID:18380028, PMID:18636082, PMID:18717720, PMID:18846639, PMID:19062535, PMID:19259128, PMID:19369543, PMID:19448103, PMID:19691535, PMID:20039784, PMID:20128140, PMID:20193560, PMID:20435583, PMID:20491857, PMID:20593665, PMID:20857133, PMID:20942588, PMID:21104867, PMID:21149811, PMID:21254193, PMID:21280457, PMID:21282593, PMID:21291455, PMID:21300330, PMID:21309765, PMID:21326314, PMID:21607969, PMID:21692908, PMID:21922480, PMID:22159091, PMID:22243284, PMID:22464564, PMID:22771394, PMID:22820753, PMID:22944031, PMID:23011429, PMID:23106488, PMID:23209285, PMID:23232577, PMID:23279342, PMID:23384994, PMID:23649551, PMID:23773993, PMID:23838279, PMID:24053775, PMID:24078732, PMID:24170412, PMID:24444136, PMID:24627108, PMID:24768312, PMID:24958582, PMID:25025039, PMID:25043634, PMID:25086786, PMID:25388846, PMID:25429913, PMID:25595958, PMID:25614874, PMID:25741868, PMID:25802885, PMID:25883816, PMID:25947624, PMID:25969535, PMID:26385972, PMID:26454100, PMID:26467025, PMID:27025386, PMID:27027447, PMID:27088055, PMID:27098783, PMID:27367520, PMID:27544631, PMID:27549087, PMID:27804109, PMID:27812541, PMID:27844031, PMID:27862672, PMID:28071741, PMID:28097225, PMID:28448691, PMID:28469099, PMID:28492532, PMID:28768847, PMID:31211173, PMID:224645664 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity IEP
ISO
RGD PMID:22189569, PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
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 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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:28492532, PMID:29787766 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11528513, PMID:15122254, PMID:16215937, PMID:17623484, PMID:17881652, PMID:18325928, PMID:18344398, PMID:18832141, PMID:18952241, PMID:19435728, PMID:20178975, PMID:20660910, PMID:20870250, PMID:21149811, PMID:21611841, PMID:21892769, PMID:21983720, PMID:22031878, PMID:22176143, PMID:22206013, 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
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1517763, PMID:15021985, PMID:15122253, PMID:15565283, PMID:20538880, PMID:21985219, PMID:23796487, PMID:26718575, PMID:28251916, PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 6:60,132,025...60,151,354
Ensembl chr 6:60,132,024...60,151,420
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, PMID:15248100, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:24022109, PMID:24033266, PMID:24088041, PMID:25326635, PMID:25439726, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26392352, PMID:26467025, PMID:26922252, PMID:27450922, PMID:28251916, 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
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, PMID:23515051, PMID:23521651, PMID:24174593, PMID:24750328, PMID:25165188, PMID:25407002, PMID:25676889, PMID:25741868, PMID:26467025, PMID:27350175, PMID:28492532 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9409358, PMID:11389829, PMID:18334619, PMID:24033266, PMID:24469107, PMID:25025039, 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 Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588, PMID:1678513, PMID:2239969, PMID:12525712, PMID:15122712, PMID:15776420, PMID:15776429, PMID:15786462, PMID:16373087, PMID:16787513, PMID:19541485, PMID:23319192, PMID:23576546, PMID:24604904, PMID:24844793, PMID:24880540, PMID:25058650, PMID:25342198, PMID:25741868, PMID:26392352, PMID:26467025, PMID:27549087, PMID:28211240, PMID:28492532 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:2526018, PMID:8621584, PMID:10080180, PMID:10587585, PMID:10655060, PMID:10739751, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11102973, PMID:11180602, PMID:11344241, PMID:11503164, PMID:11792811, PMID:11799477, PMID:12057196, PMID:12075506, PMID:12376891, PMID:12467734, PMID:12467752, PMID:12702809, PMID:12768443, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14684700, PMID:14985400, PMID:15060110, PMID:15140538, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15531479, PMID:15770669, PMID:15965218, PMID:15998779, PMID:16084085, PMID:16174718, PMID:16585054, PMID:16772334, PMID:17107595, PMID:17250669, PMID:17250699, PMID:17347251, PMID:17377071, PMID:17536044, PMID:17711925, PMID:17848409, PMID:18348272, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18604166, PMID:18714801, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19084400, PMID:19220582, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19842191, PMID:19859838, PMID:19875404, PMID:20130076, PMID:20160190, PMID:20497714, PMID:20625965, PMID:20627339, PMID:20662858, PMID:20848652, PMID:20980393, PMID:21520333, PMID:21535365, PMID:21831885, PMID:21883346, PMID:21980471, PMID:22071332, PMID:22177269, PMID:22199124, PMID:22224630, PMID:22276265, PMID:22331516, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23062543, PMID:23349452, PMID:23497705, PMID:23804595, PMID:23853504, PMID:23861362, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24375749, PMID:24503780, PMID:24623722, PMID:24721642, PMID:24794538, PMID:25025039, PMID:25049529, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25351510, PMID:25367549, PMID:25448463, PMID:25524705, PMID:25525159, PMID:25617006, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25873806, PMID:25885670, PMID:25982065, PMID:26467025, PMID:26498160, PMID:26602028, PMID:26662654, PMID:27000522, PMID:27153395, PMID:27199538, PMID:27447704, PMID:27532257, PMID:27650965, PMID:27723096, PMID:27841971, PMID:27884249, PMID:27896052, PMID:27896284, PMID:28087566, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28807990, PMID:29078011, PMID:29943882, PMID:30012837, PMID:30137533, PMID:30311386, PMID:30402260, PMID:30420677, PMID:30488537, PMID:30765282, PMID:30901896 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 disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20865121, PMID:22012984, PMID:22781092, PMID:24894446, PMID:25741868, PMID:26752306, PMID:28286897, PMID:28335037, PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23729695, PMID:24103465, PMID:24354524, PMID:25741868, PMID:25913036, PMID:28492532, PMID:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
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 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:8406488, PMID:9409358, PMID:10732809, PMID:11148244, 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:17502546, 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:20193559, PMID:20301684, PMID:20335458, PMID:20350294, PMID:20418531, PMID:20482598, 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:21892769, PMID:22206013, PMID:22442078, PMID:22492563, PMID:22494076, PMID:22653593, PMID:22762946, PMID:22851605, PMID:22926664, PMID:22957060, PMID:23456260, PMID:23615052, PMID:23806086, PMID:23929728, PMID:24018473, PMID:24033266, PMID:24050734, PMID:24053775, PMID:24078732, PMID:24088041, PMID:24126688, PMID:24444136, PMID:24450158, PMID:24473995, PMID:24487800, PMID:24530046, PMID:24604904, PMID:24627108, PMID:24803844, 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:26378787, PMID:26382835, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26686600, PMID:26752306, PMID:26801520, PMID:26916081, PMID:26930221, PMID:26955893, PMID:26968897, PMID:26989944, 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: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 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, PMID:26912637, PMID:27105897, PMID:27105987, PMID:27329773, PMID:27794525, 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
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
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:180800
ClinVar Annotator: match by OMIM:118200
ClinVar
OMIM
PMID:7504284, PMID:7505151, PMID:7506095, PMID:7511317, PMID:7527371, PMID:7530774, PMID:7550231, PMID:7688964, PMID:7693129, PMID:7693130, PMID:7694726, PMID:8644725, PMID:8664899, PMID:8797476, PMID:8800924, PMID:8816708, PMID:8835320, PMID:8844219, PMID:8990016, PMID:9187667, PMID:9217235, PMID:9452091, PMID:9452099, PMID:9595994, PMID:9633821, PMID:9888385, PMID:10071056, PMID:10093067, PMID:10329755, PMID:10399750, PMID:10406984, PMID:10463363, PMID:10475757, PMID:10533074, PMID:10545037, PMID:10553995, PMID:10581375, PMID:10737979, PMID:10764043, PMID:10885340, PMID:10923043, PMID:10965800, PMID:11080236, PMID:11080237, PMID:11085599, PMID:11160475, PMID:11437164, PMID:11484669, PMID:11545686, PMID:11701152, PMID:11801400, PMID:11835375, PMID:12090401, PMID:12207153, PMID:12207932, PMID:12221176, PMID:12242557, PMID:12402337, PMID:12477701, PMID:12497641, PMID:12707985, PMID:12807974, PMID:12911457, PMID:12940837, PMID:12948789, PMID:12953275, PMID:14711881, PMID:14742601, PMID:14871447, PMID:15036333, PMID:15050444, PMID:15094849, PMID:15159512, PMID:15170620, PMID:15241803, PMID:15261887, PMID:15377707, PMID:15642860, PMID:15729519, PMID:16198109, PMID:16279991, PMID:16488608, PMID:16495463, PMID:16521307, PMID:16543539, PMID:16616845, PMID:16616847, PMID:16775239, PMID:16987171, PMID:17030746, PMID:17143884, PMID:17294201, PMID:17297707, PMID:17468193, PMID:17915947, PMID:17940173, PMID:18209201, PMID:18255032, PMID:18337304, PMID:18347322, PMID:18380018, PMID:18380030, PMID:18422810, PMID:18636082, PMID:18663734, PMID:19259128, PMID:19293842, PMID:19454582, PMID:19475438, PMID:19629567, PMID:19691535, PMID:19882637, PMID:19918771, PMID:20215982, PMID:20385006, PMID:20456450, PMID:20461396, PMID:20516806, PMID:20556410, PMID:20571287, PMID:20621479, PMID:20800346, PMID:20937820, PMID:21107784, PMID:21149811, PMID:21326314, PMID:21503568, PMID:21840889, PMID:22018721, PMID:22176150, PMID:22222859, PMID:22433810, PMID:22451207, PMID:22622165, PMID:22734905, PMID:23197742, PMID:23279346, PMID:23290023, PMID:23342407, PMID:23649551, PMID:23806086, PMID:24028194, PMID:24033266, PMID:24053775, PMID:24078732, PMID:24088041, PMID:24444136, PMID:24819634, PMID:25025039, PMID:25388615, PMID:25429913, PMID:25430934, PMID:25614874, PMID:25694466, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26257172, PMID:26310628, PMID:26392352, PMID:26454100, PMID:26467025, PMID:27088055, PMID:27639257, PMID:28286897, PMID:28492532, PMID:29465609, PMID:29687021, PMID:30311386, PMID:11080237 RGD:1358513 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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:30311386 NCBI chr MT:7,919...8,599
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, PMID:14530412, PMID:15469949, PMID:15505184, PMID:17973976, PMID:23781969, PMID:25025039, PMID:25231362, PMID:25741868, PMID:26467025, PMID:27582484, PMID:28492532 NCBI chr 8:12,283,471...12,334,014
Ensembl chr 8:12,284,528...12,333,316
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
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 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11220745, PMID:12477167, PMID:12566280, PMID:14733962, PMID:16619203, PMID:16930284, PMID:17052987, PMID:17620486, PMID:19158810, PMID:20039262, PMID:21149811, PMID:21493625, PMID:21840889, PMID:22155564, PMID:22206013, PMID:22288874, PMID:22765307, PMID:23618875, PMID:24887401, PMID:25264603, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:25802885, PMID:25877835, PMID:26109717, PMID:26467025, PMID:26645395, PMID:27206872, PMID:27549087, PMID:28492532, PMID:28501821, PMID:30311386, PMID:30373780, PMID:14733962 RGD:1358514 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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, PMID:11310631, PMID:11668614, PMID:11719521, PMID:12210794, PMID:12949319, PMID:15534759, PMID:16373086, PMID:18077166, PMID:18322713, PMID:18657423, PMID:21708027, PMID:22302274, PMID:22957891, PMID:24154508, PMID:27058611, PMID:27265460, PMID:27551041, PMID:27698470, PMID:28492532, PMID:28981924, PMID:29770739 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
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 1:84,339,269...84,361,686
Ensembl chr 1:84,339,261...84,353,725
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
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, PMID:1677316, PMID:1721895, PMID:1822787, PMID:7649472, PMID:8012388, PMID:8105684, PMID:8252046, PMID:8500795, PMID:8615087, PMID:8777804, PMID:8988161, PMID:9040737, PMID:9040744, PMID:9187667, PMID:9371959, PMID:9452099, PMID:9543325, PMID:9585367, PMID:9712007, PMID:9748013, PMID:9852256, PMID:10078969, PMID:10093067, PMID:10211478, PMID:10586280, PMID:10632107, PMID:10737979, PMID:11081809, PMID:11140841, PMID:11369192, PMID:11545686, PMID:11835375, PMID:12211648, PMID:12402337, PMID:12497641, PMID:12578939, PMID:12796555, PMID:14502374, PMID:15099590, PMID:15099592, PMID:15241803, PMID:15474367, PMID:15537650, PMID:15786462, PMID:16199442, PMID:16437560, PMID:16922730, PMID:17275665, PMID:17303424, PMID:17620487, PMID:17707409, PMID:17796454, PMID:18380017, PMID:18642376, PMID:19067730, PMID:19259128, PMID:19427269, PMID:19691535, PMID:19830275, PMID:19909487, PMID:20453308, PMID:20842290, PMID:21149811, PMID:21194947, PMID:21228398, PMID:21252112, PMID:21337347, PMID:21692910, PMID:22006697, PMID:22131320, PMID:22382358, PMID:22730194, PMID:23263778, PMID:23279344, PMID:23313019, PMID:23965407, PMID:24239057, PMID:25192979, PMID:25400662, PMID:25429913, PMID:25525159, PMID:25614874, PMID:25741868, PMID:26012543, PMID:26102530, PMID:26392352, PMID:26467025, PMID:27609586, PMID:28286897, PMID:28333917, PMID:28492532, PMID:28748849, PMID:29127354, PMID:9409359, PMID:8630243, PMID:9040744 RGD:1358786, RGD:2312445, RGD:1358560 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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, PMID:15469949, PMID:16534116, PMID:16770524, PMID:18410371, PMID:18504680, PMID:19837996, PMID:21079185, PMID:21326314, PMID:21741241, PMID:21840889, PMID:22847150, PMID:24011642, PMID:24078732, PMID:24627108, PMID:24969084, PMID:25025039, PMID:25044680, PMID:25164601, PMID:25326635, PMID:25614874, PMID:25741868, PMID:26059842, PMID:26257172, PMID:26392352, PMID:26467025, PMID:28492532, PMID:29858556, PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
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, PMID:18272684, PMID:19531583, PMID:19651702, PMID:20028791, PMID:21151572, PMID:22971099, PMID:23179371, PMID:23188822, PMID:24498653, PMID:24521780, PMID:25741868, 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
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22703882, PMID:24604904, PMID:25025039 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196, PMID:24327336, PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
JBrowse link
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9521281, PMID:10932274, PMID:15304601, PMID:15477569, PMID:21840889, PMID:24627108, PMID:25231362, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
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:25791876, PMID:28492532, PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Roussy-Levy Syndrome
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:12807974, PMID:17468193, PMID:19454582, PMID:23342407, PMID:24033266, PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254, PMID:25787132 NCBI chr 2:85,377,318...85,808,970
Ensembl chr 2:85,377,318...85,808,970
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
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, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9120441, PMID:14574644, PMID:16326826, PMID:16806930, PMID:16924012, PMID:17470135, PMID:18414213, PMID:18511281, PMID:18846676, PMID:19086034, PMID:19272779, PMID:19744956, PMID:20028792, PMID:20220177, PMID:20826437, PMID:21291453, PMID:21840889, PMID:22462672, PMID:22950825, PMID:22978647, PMID:23466821, PMID:23553667, PMID:23806086, PMID:24033266, PMID:25025039, PMID:25188385, PMID:25231362, PMID:25326637, PMID:25429913, PMID:25525159, PMID:25614874, PMID:25737037, PMID:25741868, PMID:25741869, PMID:26257172, PMID:26392352, PMID:26467025, PMID:26752306, PMID:26794302, PMID:27231023, PMID:27549087, PMID:27582484, PMID:28492532, PMID:29184351, PMID:29321516, PMID:29336362, PMID:30001926, PMID:30311386 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12368912, PMID:16606917, PMID:17893295, PMID:20020398, PMID:21628467, PMID:25525159, PMID:25741868 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
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 chr18:24,369,104...24,397,412
Ensembl chr18:24,369,125...24,397,551
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 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
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 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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, PMID:14152213, PMID:15037712, PMID:15546589, PMID:16210380, PMID:16364956, PMID:18018475, PMID:19132419, PMID:19651702, PMID:19923297, PMID:20097765, PMID:20504773, PMID:21618344, PMID:22302274, PMID:23454272, PMID:24247255, PMID:24604904, PMID:24673574, PMID:25584079, PMID:25741868, PMID:26467025, PMID:26681808, PMID:28492532, PMID:31509666, PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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:26681808, PMID:28492532, PMID:29184351, PMID:30866134, PMID:31509666 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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, 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:21964574, PMID:22065612, PMID:22187434, PMID:22291064, PMID:22419508, PMID:22526352, 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:26249260, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27751652, PMID:28492532, PMID:28898540, PMID:29770609, PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:192115, PMID:1353008, PMID:1355416, PMID:1356051, PMID:1490495, PMID:1520326, PMID:1547960, PMID:1570831, PMID:1626556, PMID:1664269, PMID:1729893, PMID:1850190, PMID:1867256, PMID:1877623, PMID:1977686, PMID:1981182, PMID:1992765, PMID:1997217, PMID:2046936, PMID:2122246, PMID:2174830, PMID:2237288, PMID:2564060, PMID:2590199, PMID:2624269, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2877582, PMID:2891727, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3676699, PMID:3722385, PMID:3908483, PMID:4079954, PMID:4138132, PMID:4354899, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6100724, PMID:6208668, PMID:6311926, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7389759, PMID:7599630, PMID:7608709, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8064809, PMID:8100581, PMID:8102146, PMID:8194279, PMID:8509786, PMID:8563114, PMID:8721565, PMID:8778271, PMID:8784093, PMID:8857732, PMID:9090525, PMID:9215058, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9748014, PMID:9771673, PMID:9818054, PMID:9818883, PMID:9843084, PMID:10453736, PMID:10465115, PMID:10488818, PMID:10506096, PMID:10529370, PMID:10772944, PMID:11385707, PMID:11577236, PMID:11709003, PMID:11812437, PMID:11866053, PMID:11940682, PMID:12000195, PMID:12050338, PMID:12433265, PMID:12440486, PMID:12566023, PMID:12588803, PMID:12617705, PMID:14640030, PMID:14673473, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15123043, PMID:15185492, PMID:15217993, PMID:15249622, PMID:15523922, PMID:15735344, PMID:15820680, PMID:15930086, PMID:16194874, PMID:16194875, PMID:16362527, PMID:16911959, PMID:17431395, PMID:17431450, PMID:17503405, PMID:17698792, PMID:17968687, PMID:18276611, PMID:18295603, PMID:18460047, PMID:18606975, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19364362, PMID:19428025, PMID:19602727, PMID:19709674, PMID:19781421, PMID:19808383, PMID:20209591, PMID:20301373, PMID:20660862, PMID:20840742, PMID:21406045, PMID:21557933, PMID:21992998, PMID:22332999, PMID:22382560, PMID:22449240, PMID:22531659, PMID:22620962, PMID:22745357, PMID:23080516, PMID:23387326, PMID:23580146, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24455802, PMID:24474780, PMID:24503780, PMID:24555660, PMID:24601850, PMID:24800914, PMID:24955979, PMID:25311081, PMID:25550818, PMID:25741868, PMID:25743335, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26369527, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27532257, PMID:27562180, PMID:27793437, PMID:27885756, PMID:28492532, PMID:28635949, PMID:28798025, PMID:29121657, PMID:31371117 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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, PMID:26975778, PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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 5:1,328,963...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 Qualifiers 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 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 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 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 5:2,042,991...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 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: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 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, 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 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: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 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: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 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: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 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: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 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 9:82,436,453...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 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: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 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 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 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, 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 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: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 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:15731758, PMID:16227997, PMID:17008356, PMID:17636067, PMID:17932957, PMID:18414213, PMID:18560793, PMID:19130742, PMID:19502294, PMID:19623537, PMID:19932619, PMID:20227276, PMID:20529869, PMID:20700106, PMID:20817456, PMID:20858595, PMID:20927630, PMID:21221624, PMID:21762456, PMID:22096584, PMID:22369075, PMID:22396310, PMID:22451505, PMID:22613877, PMID:23338057, PMID:23394783, PMID:23806086, PMID:24016602, PMID:24033266, PMID:24088041, PMID:24135484, PMID:24366529, PMID:24465259, PMID:24728327, PMID:25214167, PMID:25259927, PMID:25262827, PMID:25326635, PMID:25492887, PMID:25501959, PMID:25741868, PMID:25957634, PMID:26199319, PMID:26273216, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26842864, PMID:26908122, PMID:27328317, PMID:27343996, PMID:27549087, PMID:27854218, PMID:28357347, PMID:28492532, PMID:28676641, PMID:30311386, PMID:30373780, PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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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 5:146,933,592...146,945,882
Ensembl chr 5:146,933,592...146,945,880
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 5:144,336,312...144,341,586
Ensembl chr 5:144,336,312...144,341,586
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 5:144,444,390...144,479,430
Ensembl chr 5:144,448,792...144,479,306
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 5:144,355,792...144,436,509
Ensembl chr 5:144,364,269...144,436,509
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 5:144,501,875...144,557,165
Ensembl chr 5:144,504,938...144,556,889
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 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,415,226...141,430,627
Ensembl chr 5:141,415,075...141,430,659
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 5:135,482,068...135,498,693
Ensembl chr 5:135,482,068...135,498,822
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 5:136,073,056...136,112,344
Ensembl chr 5:136,073,056...136,112,344
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
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 5:136,718,352...136,719,868
Ensembl chr 5:136,718,352...136,721,379
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 5:147,120,128...147,148,576
Ensembl chr 5:147,120,129...147,148,291
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 5:136,707,510...136,717,345
Ensembl chr 5:136,707,510...136,715,981
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,013,978...136,017,742
Ensembl chr 5:136,014,017...136,017,677
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 5:141,007,462...141,033,511
Ensembl chr 5:141,007,462...141,033,511
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 5:135,988,549...135,994,985
Ensembl chr 5:135,987,573...135,994,848
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 5:140,559,195...140,585,494
Ensembl chr 5:140,559,206...140,585,408
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 5:135,440,276...135,445,794
Ensembl chr 5:135,442,031...135,445,791
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 5:136,691,655...136,707,197
Ensembl chr 5:136,703,674...136,706,998
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 5:138,364,211...138,462,922
Ensembl chr 5:138,364,167...138,462,864
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 5:137,260,728...137,264,931
Ensembl chr 5:137,260,739...137,265,015
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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 5:142,911,310...142,933,536
Ensembl chr 5:142,911,305...142,933,526
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 5:137,383,065...137,458,594
NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184
Ensembl chr 5:137,383,048...137,458,184
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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 5:139,597,731...139,598,622
Ensembl chr 5:139,597,731...139,598,622
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,577,670...144,617,507
Ensembl chr 5:144,581,427...144,616,335
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 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864
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 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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 5:146,091,167...146,743,436
Ensembl chr 5:146,383,942...146,739,418
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 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
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 5:145,234,757...145,304,536
Ensembl chr 5:145,257,714...145,304,536
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 5:136,533,791...136,541,795
Ensembl chr 5:136,533,792...136,541,795
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 5:143,053,365...143,062,203
Ensembl chr 5:143,053,367...143,062,226
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 5:136,723,398...136,726,358
Ensembl chr 5:136,723,406...136,726,358
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 5:135,995,128...135,997,807
Ensembl chr 5:135,997,052...135,997,711
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 5:137,458,692...137,463,255
Ensembl chr 5:137,670,123...137,674,802
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
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 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
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 5:137,255,868...137,260,486
Ensembl chr 5:137,255,908...137,260,483
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 5:142,875,171...142,910,537
Ensembl chr 5:142,875,773...142,908,395
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 5:136,406,009...136,533,408
Ensembl chr 5:136,406,130...136,533,389
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 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
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 5:144,160,026...144,161,421
Ensembl chr 5:144,160,108...144,161,410
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,849,930...139,853,247
Ensembl chr 5:139,849,930...139,853,247
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 chr10:44,736,547...44,746,907
Ensembl chr10:44,736,545...44,746,549
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 5:142,688,962...142,696,330
Ensembl chr 5:142,689,026...142,696,383
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 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
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 5:138,587,968...138,676,948
Ensembl chr 5:138,605,793...138,676,962
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 5:139,208,153...139,227,288
Ensembl chr 5:139,208,046...139,227,196
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 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
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 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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 5:145,422,034...145,440,558
Ensembl chr 5:145,422,357...145,423,172
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 5:143,027,970...143,053,418
Ensembl chr 5:143,027,977...143,055,190
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 5:135,398,926...135,439,772
Ensembl chr 5:135,412,256...135,439,577
JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:143,500,441...143,715,546
Ensembl chr 5:143,500,441...143,715,546
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 5:138,685,634...138,687,476
Ensembl chr 5:138,685,624...138,687,816
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 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
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 5:135,860,578...135,870,535
Ensembl chr 5:135,860,675...135,868,495
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 5:140,923,914...140,940,905
Ensembl chr 5:140,923,914...140,940,905
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 5:138,774,501...139,077,403
Ensembl chr 5:139,007,642...139,077,377
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 5:146,445,545...146,446,227
Ensembl chr 5:146,445,545...146,446,227
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
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 5:140,870,127...140,882,242
Ensembl chr 5:140,870,140...140,882,244
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 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:137,189,440...137,192,125
Ensembl chr 5:137,189,473...137,192,240
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 5:142,731,767...142,796,305
Ensembl chr 5:142,731,767...142,796,305
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:136,728,744...136,749,187
Ensembl chr 5:136,728,740...136,748,980
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 5:135,351,767...135,390,363
Ensembl chr 5:135,351,816...135,388,083
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 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
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 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
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 5:136,027,923...136,053,268
Ensembl chr 5:136,027,934...136,053,210
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 5:136,602,472...136,610,058
Ensembl chr 5:136,602,395...136,610,054
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 5:144,779,306...144,872,271
Ensembl chr 5:144,779,681...144,872,271
JBrowse link
G LOC100361083 hypothetical LOC100361083 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:141,096,801...141,100,963 JBrowse link
G LOC100912566 UPF0500 protein C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:146,320,693...146,342,159
Ensembl chr 5:146,337,491...146,342,154
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 5:146,023,695...146,069,623
Ensembl chr 5:146,023,696...146,069,670
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 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
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 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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 5:142,850,139...142,857,292
Ensembl chr 5:142,851,526...142,857,131
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 5:144,250,416...144,274,981
Ensembl chr 5:144,250,419...144,274,981
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 5:135,149,336...135,285,337
Ensembl chr 5:135,149,307...135,285,337
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 5:143,081,298...143,103,225
Ensembl chr 5:143,081,326...143,103,222
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 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
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 5:139,699,877...139,699,965
Ensembl chr 5:139,699,877...139,699,965
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 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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 5:144,054,452...144,065,045
Ensembl chr 5:144,054,452...144,065,045
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 5:142,797,340...142,843,896
Ensembl chr 5:142,797,366...142,842,122
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 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
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 5:141,560,192...141,567,399
Ensembl chr 5:141,560,192...141,567,399
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 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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 5:135,446,485...135,472,113
Ensembl chr 5:135,446,962...135,472,116
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,769,452...144,779,271
Ensembl chr 5:144,769,452...144,779,212
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 5:141,390,577...141,405,507
Ensembl chr 5:141,390,580...141,405,453
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 5:139,687,442...139,760,154
Ensembl chr 5:139,687,448...139,749,050
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 5:140,888,862...140,909,322
Ensembl chr 5:140,888,973...140,904,207
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 5:144,067,391...144,099,693
Ensembl chr 5:144,067,416...144,098,207
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 5:140,813,957...140,815,711 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 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
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 5:140,978,893...140,994,732
Ensembl chr 5:140,979,435...140,994,732
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 5:146,832,552...146,931,444
Ensembl chr 5:146,882,756...146,931,444
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 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
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 5:135,997,725...136,002,900
Ensembl chr 5:135,997,725...136,002,900
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 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
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 5:142,643,599...142,646,580
Ensembl chr 5:142,643,599...142,646,580
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:138,466,298...138,470,108
Ensembl chr 5:138,466,293...138,470,096
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 5:140,822,141...140,835,244
Ensembl chr 5:140,822,141...140,834,959
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 5:138,343,934...138,361,743
Ensembl chr 5:138,352,916...138,361,702
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 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
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 5:144,702,004...144,734,220
Ensembl chr 5:144,701,949...144,734,257
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
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 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
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 5:137,356,777...137,360,636
Ensembl chr 5:137,356,801...137,360,580
JBrowse link
G RGD1559909 RGD1559909 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:142,844,079...142,845,116
Ensembl chr 5:142,844,079...142,845,116
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 5:142,933,619...142,940,807
Ensembl chr 5:142,933,619...142,938,925
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 5:138,274,907...138,279,285
Ensembl chr 5:138,274,907...138,279,285
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 5:141,462,579...141,511,893
Ensembl chr 5:141,491,223...141,507,892
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 5:138,518,559...138,545,577
Ensembl chr 5:138,521,340...138,545,404
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 5:139,790,395...139,819,014
Ensembl chr 5:139,783,951...139,819,016
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 5:140,107,144...140,162,698
Ensembl chr 5:140,107,275...140,162,642
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 5:147,246,032...147,270,892
Ensembl chr 5:147,246,037...147,270,957
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 5:136,129,457...136,351,752
Ensembl chr 5:136,129,425...136,166,786
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 5:136,020,941...136,023,511
Ensembl chr 5:136,020,941...136,023,511
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 5:141,572,536...141,590,784
Ensembl chr 5:141,572,536...141,590,781
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 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
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 5:147,333,890...147,375,151
Ensembl chr 5:147,335,242...147,375,009
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 5:139,379,256...139,466,805
Ensembl chr 5:139,385,429...139,466,081
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 5:142,702,721...142,722,350
Ensembl chr 5:142,702,685...142,722,341
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 5:145,079,803...145,088,517
Ensembl chr 5:145,079,803...145,088,498
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 5:144,161,881...144,178,161
Ensembl chr 5:144,162,141...144,176,807
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 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
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 5:139,467,933...139,473,599
Ensembl chr 5:139,468,546...139,473,017
JBrowse link
G Smap2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:139,885,321...139,931,366
Ensembl chr 5:139,885,326...139,931,366
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 5:145,311,317...145,315,185
Ensembl chr 5:145,311,375...145,315,185
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 chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
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 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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 5:144,112,612...144,150,653
Ensembl chr 5:144,114,012...144,150,647
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 5:138,245,639...138,251,353
Ensembl chr 5:138,245,639...138,251,353
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 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,341,955...144,345,500
Ensembl chr 5:144,341,946...144,345,531
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 5:135,574,172...135,659,842
Ensembl chr 5:135,574,172...135,659,842
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 5:144,740,950...144,761,787
Ensembl chr 5:144,740,956...144,761,787
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 5:144,178,248...144,221,318
Ensembl chr 5:144,179,023...144,221,263
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 5:137,294,544...137,321,116
Ensembl chr 5:137,294,544...137,321,121
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 5:140,019,871...140,024,458
Ensembl chr 5:140,019,878...140,024,176
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 5:137,371,825...137,373,229
Ensembl chr 5:137,371,825...137,373,205
Ensembl chr 5:137,371,825...137,373,205
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 5:145,188,323...145,191,953
Ensembl chr 5:145,188,323...145,191,953
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 5:136,112,417...136,127,976
Ensembl chr 5:136,112,417...136,127,976
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 5:147,288,700...147,295,191
Ensembl chr 5:147,288,723...147,296,702
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 5:135,394,013...135,397,591
Ensembl chr 5:135,394,016...135,397,591
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 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
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 5:147,068,725...147,099,024
Ensembl chr 5:147,069,616...147,095,242
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 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
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 5:142,666,288...142,681,173
Ensembl chr 5:142,666,289...142,681,173
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:14606043, PMID:16429158, PMID:19561293, PMID:21384131, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26138142, PMID:26257172, PMID:26467025, PMID:26975778, PMID:27027447, PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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 5:138,319,754...138,336,721
Ensembl chr 5:138,319,762...138,336,475
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 5:142,845,265...142,850,110
Ensembl chr 5:142,845,114...142,850,111
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 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
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 5:146,951,195...146,985,450
Ensembl chr 5:146,952,653...146,973,932
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 5:139,856,457...139,871,896 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 5:138,217,841...138,222,534
Ensembl chr 5:138,217,845...138,222,534
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 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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 5:145,106,518...145,123,869
Ensembl chr 5:145,105,997...145,123,861
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 5:144,878,212...144,996,431
Ensembl chr 5:144,878,212...144,996,431
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 5:145,138,667...145,186,285
Ensembl chr 5:145,138,697...145,186,357
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 5:138,470,165...138,505,928
Ensembl chr 5:138,470,069...138,505,556
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 5:146,760,822...146,788,945
Ensembl chr 5:146,762,683...146,787,676
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 5:135,735,825...135,854,525
Ensembl chr 5:135,735,825...135,852,575
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, PMID:9633821, PMID:9888385, PMID:10071056, PMID:10329755, PMID:10406984, PMID:10737979, PMID:10764043, PMID:10923043, PMID:11080237, PMID:11545686, PMID:11835375, PMID:12207153, PMID:12402337, PMID:12911457, PMID:12948789, PMID:12953275, PMID:15094849, PMID:15159512, PMID:15241803, PMID:15377707, PMID:16279991, PMID:16775239, PMID:18337304, PMID:19629567, PMID:20456450, PMID:20461396, PMID:23197742, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26310628, PMID:26392352, 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 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:25741868, PMID:28492532, PMID:29653220, PMID:30373780 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
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:27908631, PMID:28492532, PMID:28642160 NCBI chr 2:118,978,965...119,007,877
Ensembl chr 2:118,978,973...119,007,835
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 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G OMIM
ClinVar
PMID:12477167, PMID:12566280, PMID:14733962, PMID:17052987, PMID:19158810, PMID:21493625, PMID:21840889, PMID:22206013, PMID:22288874, PMID:24887401, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:25877835, PMID:26109717, PMID:26645395, PMID:27206872, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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, PMID:18337100, PMID:18337730, PMID:22094069, PMID:22649220, PMID:23739125, PMID:23893571, PMID:24349310, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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, PMID:25741868 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974, PMID:17468193, PMID:19454582, PMID:23342407, PMID:24033266, PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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: Charcot-Marie-Tooth disease, recessive intermediate A
ClinVar Annotator: match by term: RI-CMTA
ClinVar Annotator: match by OMIM:608340
OMIM
ClinVar
PMID:12499475, PMID:12566285, PMID:14561495, PMID:16172208, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18504680, PMID:18812441, PMID:18991200, PMID:19500985, PMID:20232219, PMID:21212451, PMID:21322820, PMID:21365284, PMID:21890626, PMID:25231362, PMID:25614874, PMID:25741868, PMID:26467025, PMID:28220846, PMID:28492532, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
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:28492532 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
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 chr12:47,024,442...47,027,495
Ensembl chr12:47,024,442...47,027,495
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 chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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 chr10:49,368,183...49,400,284
Ensembl chr10:49,368,314...49,400,193
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 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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:1523566, PMID:9537424, PMID:10369870, PMID:10371530, PMID:10502832, PMID:10762521, PMID:11239949, PMID:11523566, PMID:11545686, PMID:11835375, PMID:12471219, PMID:12525712, PMID:12609493, PMID:12736090, PMID:15241803, PMID:15947997, PMID:16198564, PMID:17717711, PMID:20513111, PMID:21149811, PMID:22271166, PMID:22522483, PMID:22546699, PMID:22734907, PMID:22765307, PMID:25720245, PMID:25741868, PMID:26204789, PMID:26214589, PMID:26274329, PMID:26467025, PMID:27013732, PMID:27159987, PMID:27164712, PMID:27549087, PMID:28492532, PMID:30481651, PMID:30843326 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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 chr10:50,369,097...50,402,584
Ensembl chr10:50,366,952...50,402,616
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 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
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 chr16:12,173,055...12,177,781
Ensembl chr16:12,174,370...12,176,832
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 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
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, PMID:7527371, PMID:7530550, PMID:7530774, PMID:7550231, PMID:7688964, PMID:7693129, PMID:7693130, PMID:7694726, PMID:8644725, PMID:8664899, PMID:8797476, PMID:8800924, PMID:8816708, PMID:8835320, PMID:8938258, PMID:9168174, PMID:9187667, PMID:9217235, PMID:9452091, PMID:9452099, PMID:9588852, PMID:9595994, PMID:9633821, PMID:9888385, PMID:10071056, PMID:10093067, PMID:10214757, PMID:10329755, PMID:10399750, PMID:10406984, PMID:10463363, PMID:10533074, PMID:10545037, PMID:10553995, PMID:10581375, PMID:10737979, PMID:10764043, PMID:10923043, PMID:10965800, PMID:11080236, PMID:11080237, PMID:11182278, PMID:11437164, PMID:11438991, PMID:11445635, PMID:11484669, PMID:11545686, PMID:11801400, PMID:11835375, PMID:11935267, PMID:12090401, PMID:12207153, PMID:12207932, PMID:12221176, PMID:12242557, PMID:12402337, PMID:12477701, PMID:12497641, PMID:12707985, PMID:12805115, PMID:12807974, PMID:12845552, PMID:12911457, PMID:12940837, PMID:12948789, PMID:12953275, PMID:14638973, PMID:14711881, PMID:14742601, PMID:15050444, PMID:15094849, PMID:15159512, PMID:15170620, PMID:15241803, PMID:15377707, PMID:15716547, PMID:15729519, PMID:16198109, PMID:16279991, PMID:16488608, PMID:16495463, PMID:16543539, PMID:16616845, PMID:16616847, PMID:16775239, PMID:16844954, PMID:17143884, PMID:17172621, PMID:17294201, PMID:17297707, PMID:17468193, PMID:17602703, PMID:17915947, PMID:18255032, PMID:18337304, PMID:18347322, PMID:18380030, PMID:18422810, PMID:18636082, PMID:18663734, PMID:19259128, PMID:19293842, PMID:19454582, PMID:19475438, PMID:19629567, PMID:19882637, PMID:20215982, PMID:20385006, PMID:20456450, PMID:20461396, PMID:20516806, PMID:20544920, PMID:20571287, PMID:20878767, PMID:20937820, PMID:21107784, PMID:21149811, PMID:21326314, PMID:21363884, PMID:21504504, PMID:21787890, PMID:21840889, PMID:22018721, PMID:22176150, PMID:22222859, PMID:22433810, PMID:22451207, PMID:22622165, PMID:22689911, PMID:22734905, PMID:23197742, PMID:23250879, PMID:23279346, PMID:23290023, PMID:23342407, PMID:23649551, PMID:24028194, PMID:24033266, PMID:24053775, PMID:24444136, PMID:24819634, PMID:24844793, PMID:25025039, PMID:25326637, PMID:25429913, PMID:25448007, PMID:25614874, PMID:25694466, PMID:25720167, PMID:25741868, PMID:26135405, PMID:26234237, PMID:26310628, PMID:26378787, PMID:26392352, PMID:26454100, PMID:26467025, PMID:27025386, PMID:27088055, PMID:27344971, PMID:27353517, PMID:27639257, PMID:27774063, PMID:28286897, PMID:28492532, PMID:29465609, PMID:29670817, PMID:29687021, PMID:30311386, PMID:31173589 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light 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 chr15:44,799,378...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 I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:1303230, PMID:1303281, PMID:1523566, PMID:1552943, PMID:1564512, PMID:1677316, PMID:1822787, PMID:3467805, PMID:6313869, PMID:7139106, PMID:7649472, PMID:7728152, PMID:7829101, PMID:8252046, PMID:8275092, PMID:8492918, PMID:8510709, PMID:8894410, PMID:8988161, PMID:8995589, PMID:9004143, PMID:9040737, PMID:9040744, PMID:9055797, PMID:9187667, PMID:9371959, PMID:9425015, PMID:9452053, PMID:9452099, PMID:9543325, PMID:9544841, PMID:9585367, PMID:9678704, PMID:9712007, PMID:9748013, PMID:9852256, PMID:9888385, PMID:10078969, PMID:10211478, PMID:10330345, PMID:10369870, PMID:10399754, PMID:10586280, PMID:10737979, PMID:10915775, PMID:10982389, PMID:11081809, PMID:11314784, PMID:11523566, PMID:11545686, PMID:11835375, PMID:11920834, PMID:12090404, PMID:12207933, PMID:12211648, PMID:12439896, PMID:12796555, PMID:12901701, PMID:14502374, PMID:15099592, PMID:15285778, PMID:15474367, PMID:15537650, PMID:16437560, PMID:18592125, PMID:18698610, PMID:18795802, PMID:19067730, PMID:19259128, PMID:19543269, PMID:19691535, PMID:20301566, PMID:20453308, PMID:20493460, PMID:20739940, PMID:20842290, PMID:21149811, PMID:21194947, PMID:21228398, PMID:21252112, PMID:21337347, PMID:21692910, PMID:21827951, PMID:21840889, PMID:22006697, PMID:22190321, PMID:23224996, PMID:23263778, PMID:23689413, PMID:23781966, PMID:23965407, PMID:24534835, PMID:24646194, PMID:24668782, PMID:24726093, PMID:25385046, PMID:25400662, PMID:25614874, PMID:25741868, PMID:26012543, PMID:26076881, PMID:26102530, PMID:26392352, PMID:26467025, PMID:27609586, PMID:28286897, PMID:28333917, PMID:28374912, PMID:28492532, PMID:28748849, PMID:28981955, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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, PMID:28492532 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
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, PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:20220177, PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
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 chr10:49,472,520...49,506,473
Ensembl chr10:49,472,460...49,506,465
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 chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 chr10:49,368,183...49,400,284
Ensembl chr10:49,368,314...49,400,193
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 chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
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 chr10:50,369,097...50,402,584
Ensembl chr10:50,366,952...50,402,616
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 chr16:12,173,055...12,177,781
Ensembl chr16:12,174,370...12,176,832
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: 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, PMID:1552545, PMID:1564512, PMID:1677316, PMID:1721895, PMID:1822787, PMID:6313869, PMID:7649472, PMID:8105684, PMID:8252046, PMID:8492918, PMID:8500795, PMID:8510709, PMID:8988161, PMID:8995589, PMID:9040737, PMID:9371959, PMID:9425015, PMID:9452053, PMID:9452099, PMID:9543325, PMID:9712007, PMID:9852256, PMID:10078969, PMID:10489052, PMID:10586280, PMID:10737979, PMID:11081809, PMID:11545686, PMID:11835375, PMID:12090404, PMID:12211648, PMID:14502374, PMID:15205993, PMID:15537650, PMID:15786462, PMID:16437560, PMID:17796454, PMID:18795802, PMID:19067730, PMID:19259128, PMID:19691535, PMID:20842290, PMID:21149811, PMID:21194947, PMID:21228398, PMID:21252112, PMID:21692910, PMID:21827951, PMID:22006697, PMID:23689413, PMID:23965407, PMID:25385046, PMID:25400662, PMID:25741868, PMID:26012543, PMID:26102530, PMID:26392352, PMID:26467025, PMID:27609586, PMID:28333917, PMID:28492532, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:49,472,520...49,506,473
Ensembl chr10:49,472,460...49,506,465
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: Charcot-Marie-Tooth disease, demyelinating, type 1b
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
ClinVar
OMIM
PMID:7504284, PMID:7505151, PMID:7506095, PMID:7511317, PMID:7527371, PMID:7550231, PMID:7688964, PMID:7693129, PMID:7693130, PMID:7694726, PMID:8310815, PMID:8644725, PMID:8664899, PMID:8797476, PMID:8800924, PMID:8816708, PMID:8835320, PMID:8938258, PMID:8990016, PMID:9168174, PMID:9187667, PMID:9452091, PMID:9452099, PMID:9595994, PMID:9633821, PMID:9888385, PMID:10071056, PMID:10093067, PMID:10214757, PMID:10329755, PMID:10399750, PMID:10475757, PMID:10553995, PMID:10581375, PMID:10737979, PMID:10764043, PMID:10923043, PMID:10965800, PMID:11080237, PMID:11182278, PMID:11437164, PMID:11438991, PMID:11445635, PMID:11484669, PMID:11545686, PMID:11801400, PMID:11835375, PMID:12090401, PMID:12207153, PMID:12207932, PMID:12221176, PMID:12242557, PMID:12402337, PMID:12477701, PMID:12497641, PMID:12707985, PMID:12805115, PMID:12845552, PMID:12911457, PMID:12940837, PMID:12948789, PMID:12953275, PMID:14711881, PMID:15050444, PMID:15094849, PMID:15159512, PMID:15170620, PMID:15241803, PMID:15377707, PMID:16279991, PMID:16488608, PMID:16495463, PMID:16521307, PMID:16543539, PMID:16775239, PMID:16844954, PMID:17030746, PMID:17143884, PMID:17172621, PMID:17294201, PMID:17602703, PMID:17915947, PMID:18209201, PMID:18255032, PMID:18337304, PMID:18347322, PMID:18422810, PMID:18636082, PMID:19259128, PMID:19293842, PMID:19475438, PMID:19629567, PMID:19882637, PMID:20215982, PMID:20456450, PMID:20461396, PMID:20556410, PMID:20571287, PMID:20937820, PMID:21107784, PMID:21149811, PMID:21787890, PMID:21840889, PMID:22451207, PMID:22689911, PMID:22734905, PMID:23197742, PMID:23250879, PMID:23290023, PMID:23806086, PMID:24053775, PMID:24088041, PMID:24444136, PMID:25429913, PMID:25448007, PMID:25614874, PMID:25694466, PMID:25720167, PMID:25741868, PMID:26135405, PMID:26234237, PMID:26257172, PMID:26310628, PMID:26378787, PMID:26392352, PMID:26454100, PMID:26467025, PMID:27088055, PMID:27353517, PMID:27639257, PMID:28286897, PMID:28492532, PMID:29670817, PMID:29687021, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b ClinVar PMID:26378787 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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: Charcot-Marie-Tooth disease, type IC
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:601098
OMIM
ClinVar
PMID:1407588, PMID:1678513, PMID:2239969, PMID:12525712, PMID:15122712, PMID:15776420, PMID:15776429, PMID:15786462, PMID:16118794, PMID:16373087, PMID:16787513, PMID:19541485, PMID:23319192, PMID:23576546, PMID:24604904, PMID:24844793, PMID:24880540, PMID:25058650, PMID:25342198, PMID:25614874, PMID:25741868, PMID:25963657, PMID:26392352, PMID:26467025, PMID:27549087, PMID:28211240, PMID:28492532, PMID:30311386 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:12481988, PMID:15111691, PMID:16452125, PMID:19286384, PMID:21168446, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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, PMID:11523566, PMID:11545686, PMID:12471219, PMID:12525712, PMID:12609493, PMID:15241803, PMID:15947997, PMID:16198564, PMID:17717711, PMID:20513111, PMID:22734907, PMID:22765307, PMID:25720245, PMID:25741868, PMID:26204789, PMID:26467025, PMID:27013732, PMID:27159987, PMID:28492532, PMID:30481651 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
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 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 neuropathy and deafness, autosomal dominant
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness
ClinVar
OMIM
PMID:7139106, PMID:7829101, PMID:10211478, PMID:10330345, PMID:11835375, PMID:11920834, PMID:12578939, PMID:12796555, PMID:15474367, PMID:19067730, PMID:20453308, PMID:23279344, PMID:25400662, PMID:25741868, PMID:26467025, PMID:28374912, 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 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
ClinVar Annotator: match by OMIM:607734
OMIM
ClinVar
PMID:12477167, PMID:12566280, PMID:16930284, PMID:17052987, PMID:19158810, PMID:20039262, PMID:21840889, PMID:24078732, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:28501821, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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
OMIM
PMID:23806086, PMID:24088041, PMID:26257172, PMID:26828946, PMID:27009151, PMID:30249361 NCBI chr 2:93,827,504...93,831,419
Ensembl chr 2:93,827,504...93,831,419
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: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 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: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 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 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 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, 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 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, 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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,