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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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motor peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10655068 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
JBrowse link
G Cct5 chaperonin containing Tcp1, subunit 5 (epsilon) ISO ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia ClinVar NCBI chr15:31,590,800...31,601,846
Ensembl chr15:31,590,800...31,601,804
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy ClinVar PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25741868 PMID:26100331 PMID:27549087 PMID:28492532 PMID:28554554 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Egr2 early growth response 2 ISO Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W
CTD Direct Evidence: marker/mechanism
congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N
CTD PMID:11523566, PMID:10369870 RGD:734922, RGD:1601012 NCBI chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
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 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
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 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17701891 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
JBrowse link
G Prx periaxin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:27,499,305...27,520,041
Ensembl chr 7:27,497,388...27,520,214
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 5:65,261,852...65,338,617
Ensembl chr 5:65,261,850...65,335,670
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 chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
JBrowse link
G Slc12a6 solute carrier family 12, member 6 IEA MouseDO NCBI chr 2:112,266,314...112,363,163
Ensembl chr 2:112,265,825...112,363,163
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 optic atrophy 3 ISO
IEA
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
OMIM:258501
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
MouseDO
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 NCBI chr 7:19,228,389...19,246,817
Ensembl chr 7:19,228,334...19,256,543
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 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 chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
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:9536098 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:17576681 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 NCBI chr10:19,860,090...19,907,674
Ensembl chr10:19,853,900...19,907,689
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 susceptibility ISO
IEA
IMP
IAGP
ClinVar Annotator: match by term: Alstrom syndrome
DNA:frameshift mutations, nonsense mutations
OMIM:203800
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
OMIM
ClinVar
RGD
MouseDO
CTD
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16720663 PMID:17576681 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:24503146 PMID:24595103 PMID:24830966 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26082521 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:30064963 PMID:31638414 PMID:32581362, PMID:16720663, PMID:11941369, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:1601169, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 6:85,587,498...85,726,611
Ensembl chr 6:85,587,531...85,702,753
JBrowse link
Charcot-Marie-Tooth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars alanyl-tRNA synthetase 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:28166811 PMID:28492532 PMID:29653220 NCBI chr 8:111,027,778...111,055,569
Ensembl chr 8:111,033,144...111,057,664
JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr11:59,211,412...59,228,267
Ensembl chr11:59,211,412...59,228,270
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25164601 PMID:26558264 NCBI chr 8:14,906,412...15,001,085
Ensembl chr 8:14,911,663...15,001,085
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr12:69,893,105...69,964,085
Ensembl chr12:69,892,614...69,966,417
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide 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:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Bag3 BCL2-associated athanogene 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 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr13:49,341,549...49,387,026
Ensembl chr13:49,341,585...49,387,026
JBrowse link
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23142943 PMID:28492532 NCBI chr19:8,837,467...8,848,683
Ensembl chr19:8,837,467...8,848,683
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 6:45,060,061...47,301,393
Ensembl chr 6:45,059,357...47,304,213
JBrowse link
G Ctdp1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542 PMID:15322984 PMID:16194727 NCBI chr18:80,407,959...80,478,739
Ensembl chr18:80,407,959...80,469,695
JBrowse link
G Dctn1 dynactin 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:28166811 PMID:28492532 NCBI chr 6:83,165,909...83,200,118
Ensembl chr 6:83,165,920...83,200,117
JBrowse link
G Dctn2 dynactin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr10:127,266,262...127,281,959
Ensembl chr10:127,266,368...127,281,950
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 1:75,236,395...75,245,692
Ensembl chr 1:75,236,406...75,245,692
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 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 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 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 1:33,907,888...34,308,662
Ensembl chr 1:33,908,225...34,308,661
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21820100 PMID:22847149 PMID:24033266 PMID:24136616 PMID:25025039 PMID:25741868 PMID:26344056 PMID:26378787 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30504930 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
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 chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
JBrowse link
G Elp1 elongator complex protein 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:18091349 PMID:18197058 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29290691 NCBI chr 4:56,746,547...56,802,569
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr18:62,504,059...62,548,863
Ensembl chr18:62,504,155...62,548,695
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 chr16:16,416,910...16,600,534
Ensembl chr16:16,416,917...16,600,549
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:9536098 PMID:17572665 PMID:17576681 PMID:19118816 PMID:21705420 PMID:23336365 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25614874 PMID:25741868 PMID:26467025 PMID:28051077 PMID:28492532 NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
G Gan giant axonal neuropathy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:28492532 NCBI chr 8:117,157,981...117,205,834
Ensembl chr 8:117,158,135...117,215,997
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:31985473 NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
IMP
DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar PMID:257 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16343542 PMID:17001820 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18062449 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: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:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391, PMID:12499475, PMID:24480485 RGD:1358634, RGD:12738398 NCBI chr 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
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:8757034 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:10586279 PMID:10586284 PMID:10586291 PMID:10587015 PMID:10639608 PMID:10646523 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10894999 PMID:10923043 PMID:10931843 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:16079393 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:19335535 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: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:23827825 PMID:23838279 PMID:23871722 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:26392352 PMID:26454100 PMID:26467025 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27098783 PMID:27234031 PMID:27367520 PMID:27544631 PMID:27549087 PMID:27804109 PMID:27812541 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28283593 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 PMID:30737405 PMID:31211173 PMID:224645664 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity ISO RGD PMID:22189569, PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr10:75,831,842...75,837,419
Ensembl chr10:75,831,114...75,837,424
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 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 PMID:29787766 NCBI chr11:54,866,383...54,870,506
Ensembl chr11:54,866,383...54,870,501
JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 2:74,684,273...74,695,106
Ensembl chr 2:74,691,924...74,695,105
JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11528513 PMID:12372593 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:24607769 PMID:25025039 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25614874 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28166811 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
JBrowse link
G Hspb8 heat shock protein 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 chr 5:116,408,491...116,422,864
Ensembl chr 5:116,408,491...116,422,864
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr12:40,203,129...40,223,189
Ensembl chr12:40,201,567...40,248,504
JBrowse link
G Ighmbp2 immunoglobulin mu 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 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing 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 chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 NCBI chr 8:111,993,439...112,011,354
Ensembl chr 8:111,993,443...112,011,323
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:28166811 PMID:28492532 PMID:29590070 PMID:30126838 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Litaf LPS-induced TN 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:20709679 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 chr16:10,959,273...10,993,121
Ensembl chr16:10,959,275...11,066,157
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar PMID:2526018 PMID:8621584 PMID:10080180 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11180602 PMID:11342468 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:15298354 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15965218 PMID:15998779 PMID:16084085 PMID:16174718 PMID:16585054 PMID:16772334 PMID:16809772 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:21465660 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:23183350 PMID:23349452 PMID:23497705 PMID:23804595 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24794538 PMID:24861648 PMID:25025039 PMID:25049529 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25371241 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:27506821 PMID:27532257 PMID:27650965 PMID:27723096 PMID:27841901 PMID:27841971 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28087566 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28701371 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29078011 PMID:29237675 PMID:29438482 PMID:29943882 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30402260 PMID:30420677 PMID:30488537 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30901896 PMID:30954027 PMID:31019283 PMID:31303467 PMID:31744510 PMID:32456328 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 2:32,925,215...32,961,654
Ensembl chr 2:32,925,216...32,961,614
JBrowse link
G Mars1 methionine-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 chr10:127,296,221...127,311,786
Ensembl chr10:127,296,221...127,311,786
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 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 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: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:28166811 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:30882371 PMID:31188717 PMID:32963807 PMID:198122151 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Morc2a microrchidia 2A 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:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 NCBI chr11:3,649,189...3,690,477
Ensembl chr11:3,649,191...3,690,477
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:9536098 PMID:9595994 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10093067 PMID:10214757 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:11935267 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:14638973 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:17576681 PMID:17915947 PMID:17940173 PMID:18209201 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18380018 PMID:18380021 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:26135405 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:11080237 RGD:1358513 NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
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:20981092 PMID:23781969 PMID:25025039 PMID:25231362 PMID:25741868 PMID:26467025 PMID:27582484 PMID:28492532 NCBI chr 9:13,747,260...13,808,896
Ensembl chr 9:13,748,410...13,806,481
JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12872253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:66,929,318...66,969,641
Ensembl chr15:66,929,318...66,969,640
JBrowse link
G Nefl neurofilament, light polypeptide 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:30373780 PMID:31788662, PMID:14733962 RGD:1358514 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
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 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr 8:31,807,452...32,891,609
Ensembl chr 8:31,814,551...32,884,797
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 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:25741868 PMID:27058611 PMID:27265460 PMID:27551041 PMID:27698470 PMID:28492532 PMID:28981924 PMID:29770739 NCBI chr 3:87,778,244...87,795,242
Ensembl chr 3:87,778,244...87,795,162
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 IMP RGD PMID:20553714 RGD:5684901 NCBI chr13:58,806,472...59,133,970
Ensembl chr13:58,806,569...59,133,970
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase, isoenzyme 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:93,764,616...93,832,150
Ensembl chr  X:93,764,607...93,832,201
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 7:27,531,367...27,553,229
Ensembl chr 7:27,532,000...27,553,218
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IMP
DNA:missense mutation:cds:p.G107V (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Roussy-Levy Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118220
ClinVar
CTD
OMIM
PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 PMID:1677316 PMID:1721895 PMID:1822787 PMID:3467805 PMID:7649472 PMID:7728152 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:10078969 PMID:10093067 PMID:10211478 PMID:10586280 PMID:10632107 PMID:10737979 PMID:11081809 PMID:11140841 PMID:11369192 PMID:11545686 PMID:11835375 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:21962505 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:26110377 PMID:26392352 PMID:26467025 PMID:28286897 PMID:28333917 PMID:28492532 PMID:28748849 PMID:29127354 PMID:30675404, PMID:9040744, PMID:8630243, PMID:9409359 RGD:1358560, RGD:2312445, RGD:1358786 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr15:79,141,325...79,151,774
Ensembl chr15:79,141,009...79,151,774
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:25188385 PMID:25326635 PMID:25326637 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29858556 PMID:31523542 NCBI chr 7:27,499,305...27,520,041
Ensembl chr 7:27,497,388...27,520,214
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:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
G Rab7 RAB7, 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 6:87,999,106...88,045,270
Ensembl chr 6:87,999,106...88,045,270
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22703882 PMID:24604904 PMID:25025039 PMID:28492532 NCBI chr 6:71,707,429...71,810,710
Ensembl chr 6:71,707,561...71,810,710
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 NCBI chr15:25,843,298...25,973,696
Ensembl chr15:25,843,180...25,973,687
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 chr15:89,288,236...89,315,311
Ensembl chr15:89,288,236...89,315,311
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 7:110,308,011...110,614,934
Ensembl chr 7:110,308,013...110,614,922
JBrowse link
G Scn11a sodium channel, voltage-gated, type XI, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24776970 PMID:25791876 PMID:28166811 PMID:28492532 PMID:29213238 NCBI chr 9:119,753,763...119,825,456
Ensembl chr 9:119,753,759...119,825,456
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 NCBI chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein 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 chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
G Sema5a sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr15:32,244,813...32,696,341
Ensembl chr15:32,244,810...32,696,341
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 NCBI chr11:117,199,661...117,362,325
Ensembl chr11:117,199,661...117,362,325
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:26467025 PMID:28492532 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar 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:31211173 NCBI chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
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 2:112,266,314...112,363,163
Ensembl chr 2:112,265,825...112,363,163
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 chr18:31,580,164...31,610,532
Ensembl chr18:31,556,111...31,609,911
JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr17:54,273,590...54,299,038
Ensembl chr17:54,273,590...54,299,034
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr 2:122,234,839...122,265,337
Ensembl chr 2:122,234,749...122,265,340
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr15:79,154,913...79,164,490
Ensembl chr15:79,154,908...79,165,240
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:19555464 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:28166811 PMID:28492532 PMID:31509666 PMID:32581362 NCBI chr13:53,332,748...53,377,417
Ensembl chr13:53,332,748...53,377,397
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 chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Tfg Trk-fused gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr16:56,690,329...56,717,467
Ensembl chr16:56,690,332...56,717,450
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
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:28166811 PMID:28492532 PMID:28898540 PMID:29770609 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 PMID:1358785 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:2002274 PMID:2046936 PMID:2063870 PMID:2122246 PMID:2174830 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2564060 PMID:2590199 PMID:2624269 PMID:2646319 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:3627183 PMID:3676699 PMID:3722385 PMID:3908483 PMID:3934968 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: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:8698351 PMID:8721565 PMID:8778271 PMID:8784093 PMID:8857732 PMID:9017939 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:10762172 PMID:10772944 PMID:10842715 PMID:11243784 PMID:11385707 PMID:11577236 PMID:11709003 PMID:11752419 PMID:11752443 PMID:11812437 PMID:11866053 PMID:11940682 PMID:12000195 PMID:12050338 PMID:12217248 PMID:12433265 PMID:12440486 PMID:12566023 PMID:12588803 PMID:12617705 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:14673473 PMID:14724437 PMID:14968122 PMID:14986482 PMID:15123043 PMID:15185492 PMID:15217993 PMID:15249622 PMID:15299606 PMID:15523922 PMID:15735344 PMID:15820680 PMID:15930086 PMID:16011990 PMID:16194874 PMID:16194875 PMID:16362527 PMID:16432141 PMID:16631014 PMID:16631015 PMID:16911959 PMID:17251346 PMID:17431395 PMID:17431450 PMID:17503405 PMID:17698792 PMID:17968687 PMID:18276611 PMID:18295603 PMID:18318779 PMID:18460047 PMID:18606975 PMID:18830126 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:20435197 PMID:20660862 PMID:20840742 PMID:21406045 PMID:21557933 PMID:21600538 PMID:21992998 PMID:22083004 PMID:22184092 PMID:22332999 PMID:22382560 PMID:22449240 PMID:22531659 PMID:22620962 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23080516 PMID:23387326 PMID:23414091 PMID:23580146 PMID:23638696 PMID:23713495 PMID:23716704 PMID:23833285 PMID:23993291 PMID:24033266 PMID:24046394 PMID:24073013 PMID:24101130 PMID:24101373 PMID:24111657 PMID:24131106 PMID:24164154 PMID:24184229 PMID:24455802 PMID:24474780 PMID:24503780 PMID:24517438 PMID:24555660 PMID:24601850 PMID:24633258 PMID:24800914 PMID:24818650 PMID:24945718 PMID:24955979 PMID:25225131 PMID:25311081 PMID:25395306 PMID:25430583 PMID:25550818 PMID:25551524 PMID:25644864 PMID:25741868 PMID:25743335 PMID:25819286 PMID:25846356 PMID:25997029 PMID:26017327 PMID:26115788 PMID:26123279 PMID:26243339 PMID:26286619 PMID:26369527 PMID:26428663 PMID:26467025 PMID:26537620 PMID:26610878 PMID:26894299 PMID:27033334 PMID:27188913 PMID:27249223 PMID:27364045 PMID:27386769 PMID:27532257 PMID:27562180 PMID:27793437 PMID:27838833 PMID:27885756 PMID:28166811 PMID:28492532 PMID:28494620 PMID:28635949 PMID:28798025 PMID:29016222 PMID:29048471 PMID:29121657 PMID:29351628 PMID:30328212 PMID:30350904 PMID:30811423 PMID:30953182 PMID:31135624 PMID:31139689 PMID:31371117 PMID:31554435 PMID:31728576 PMID:31740141 PMID:31821430 NCBI chr18:20,664,209...20,674,326
Ensembl chr18:20,665,280...20,674,321
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 6:119,923,969...120,038,695
Ensembl chr 6:119,923,969...120,038,672
JBrowse link
G Yars tyrosyl-tRNA synthetase 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 4:129,189,734...129,219,240
Ensembl chr 4:129,189,760...129,219,607
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 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
OMIM
ClinVar
CTD
PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:9536098 PMID:10463355 PMID:11891693 PMID:14755468 PMID:15668982 PMID:17576681 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:28166811 PMID:28492532 PMID:28898540 PMID:29770609 PMID:30214761 PMID:31041394 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 polypeptide ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2CC
ClinVar
OMIM
PMID:25741868 PMID:27040688 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
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 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by OMIM:606595
OMIM
ClinVar
PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:17576681 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:24607769 PMID:25025039 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28166811 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
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 1:16,641,725...16,657,428
Ensembl chr 1:16,641,725...16,657,042
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
IEA
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
OMIM:607831
DNA:missense mutation:cds:p.P231L (human)
DNA:missense mutation:cds:p.L239F (human)
ClinVar Annotator: match by OMIM:607831
OMIM
ClinVar
MouseDO
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:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28492532, PMID:18492089, PMID:20232219 RGD:12738397, RGD:12738396 NCBI chr 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
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 1:16,942,104...17,097,922
Ensembl chr 1:16,964,560...17,097,889
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 1:16,688,456...16,709,605
Ensembl chr 1:16,688,051...16,709,611
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 1:16,665,191...16,678,275
Ensembl chr 1:16,665,207...16,678,275
JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 1:16,540,788...16,619,460
Ensembl chr 1:16,540,790...16,619,489
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 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
ClinVar Annotator: match by OMIM:608673
OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28166811 PMID:28251916 PMID:28492532 NCBI chr 5:116,408,491...116,422,864
Ensembl chr 5:116,408,491...116,422,864
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 Aars alanyl-tRNA synthetase 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:25783436 PMID:26257172 PMID:26752306 PMID:28166811 PMID:28492532 NCBI chr 8:111,027,778...111,055,569
Ensembl chr 8:111,033,144...111,057,664
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
IEA
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:614228
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 PMID:22847149 PMID:23603762 PMID:23664119 PMID:24033266 PMID:24136616 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25590979 PMID:25609763 PMID:25700176 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26846447 PMID:27549087 PMID:27754416 PMID:28166811 PMID:28196890 PMID:28492532 PMID:28554554 PMID:29286531 PMID:29653220 PMID:29671837 PMID:30122514 PMID:30504930 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
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 chr12:110,447,144...110,583,075
Ensembl chr12:110,447,120...110,583,062
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
IEA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
OMIM:614436
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
ClinVar Annotator: match by OMIM:614436
OMIM
ClinVar
MouseDO
PMID:3022865 PMID:9536098 PMID:14985381 PMID:17576681 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26392352 PMID:26752306 PMID:26900582 PMID:27164712 PMID:27615052 PMID:27686364 PMID:28166811 PMID:28286897 PMID:28335037 PMID:28492532 PMID:29341362 PMID:30996334 NCBI chr 2:32,925,215...32,961,654
Ensembl chr 2:32,925,216...32,961,614
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
IEA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2Q
OMIM:615025
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2q
OMIM
ClinVar
MouseDO
PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 PMID:28492532 NCBI chr 2:5,896,219...5,942,829
Ensembl chr 2:5,896,115...5,942,792
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 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:15248100 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:21902652 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24088041 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26257172 PMID:26467025 PMID:27450922 PMID:28251916 PMID:28492532 PMID:29858556 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
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 1:75,236,395...75,245,692
Ensembl chr 1:75,236,406...75,245,692
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 NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
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 Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u ClinVar PMID:25741868 PMID:28492532 NCBI chr10:127,321,913...127,329,947
Ensembl chr10:127,321,964...127,329,943
JBrowse link
G Mars1 methionine-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
ClinVar Annotator: match by term: MARS-Related Disorder
ClinVar Annotator: match by OMIM:616280
OMIM
ClinVar
PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:28492532 PMID:31356216 NCBI chr10:127,296,221...127,311,786
Ensembl chr10:127,296,221...127,311,786
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 alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V ClinVar
OMIM
PMID:25741868 PMID:25818867 NCBI chr11:101,070,090...101,077,672
Ensembl chr11:101,070,012...101,077,672
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, spatacsin vesicle trafficking associated 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 2:122,053,526...122,119,434
Ensembl chr 2:122,053,520...122,118,386
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 Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
OMIM
ClinVar
PMID:7964809 PMID:9536098 PMID:12601114 PMID:17576681 PMID:25741868 PMID:25741893 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:27329773 PMID:27794525 PMID:28135719 PMID:28166811 PMID:28334961 PMID:28402445 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:32693025 NCBI chr11:3,649,189...3,690,477
Ensembl chr11:3,649,191...3,690,477
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B
ClinVar Annotator: match by term: DNM2-related intermediate Charcot-Marie-Tooth neuropathy
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
ClinVar Annotator: match by synonym: Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
ClinVar Annotator: match by synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M
ClinVar Annotator: match by OMIM:606482
OMIM
ClinVar
PMID:9536098 PMID:15731758 PMID:16227997 PMID:17008356 PMID:17576681 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:28166811 PMID:28357347 PMID:28492532 PMID:28676641 PMID:29653220 PMID:30208955 PMID:30373780 PMID:32860008 NCBI chr 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110065P20Rik RIKEN cDNA 1110065P20 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,849,485...124,850,730
Ensembl chr 4:124,849,080...124,851,196
JBrowse link
G 2610528J11Rik RIKEN cDNA 2610528J11 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,526,962...118,530,217
Ensembl chr 4:118,526,999...118,530,228
JBrowse link
G 5730409E04Rik RIKEN cDNA 5730409E04Rik gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,609,854...126,614,371
Ensembl chr 4:126,609,818...126,614,371
JBrowse link
G 9930104L06Rik RIKEN cDNA 9930104L06 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,936,984...124,944,661
Ensembl chr 4:124,937,048...124,944,656
JBrowse link
G A3galt2 alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,759,258...128,769,298
Ensembl chr 4:128,755,364...128,769,298
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 4:126,316,351...126,321,703
Ensembl chr 4:126,316,047...126,321,703
JBrowse link
G Ago1 argonaute RISC catalytic subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,435,012...126,468,707
Ensembl chr 4:126,435,012...126,468,583
JBrowse link
G Ago3 argonaute RISC catalytic subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,326,994...126,431,670
Ensembl chr 4:126,331,704...126,429,556
JBrowse link
G Ago4 argonaute RISC catalytic subunit 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,489,487...126,533,586
Ensembl chr 4:126,489,541...126,533,472
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 4:128,993,224...129,011,529
Ensembl chr 4:128,991,958...129,011,529
JBrowse link
G Akirin1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,735,195...123,750,299
Ensembl chr 4:123,734,559...123,750,345
JBrowse link
G Akr1a1 aldo-keto reductase family 1, member A1 (aldehyde reductase) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,636,510...116,651,674
Ensembl chr 4:116,636,510...116,651,680
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 4:117,213,326...117,251,917
Ensembl chr 4:117,213,334...117,252,125
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,925,908...117,930,795
Ensembl chr 4:117,926,162...117,929,763
JBrowse link
G Atp6v0b ATPase, H+ transporting, lysosomal V0 subunit B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,884,330...117,887,333
Ensembl chr 4:117,884,326...117,887,333
JBrowse link
G AU022252 expressed sequence AU022252 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,222,882...119,232,885
Ensembl chr 4:119,203,570...119,232,712
JBrowse link
G AU040320 expressed sequence AU040320 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,753,547...126,869,694
Ensembl chr 4:126,753,544...126,870,070
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 4:128,930,233...128,962,456
Ensembl chr 4:128,930,233...128,962,442
JBrowse link
G B4galt2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,873,000...117,883,519
Ensembl chr 4:117,869,260...117,883,487
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 4:123,312,645...123,343,252
Ensembl chr 4:123,312,645...123,343,252
JBrowse link
G Bmp8b bone morphogenetic protein 8b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,104,308...123,126,094
Ensembl chr 4:123,105,165...123,132,099
JBrowse link
G Btbd19 BTB (POZ) domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,119,219...117,125,658
Ensembl chr 4:117,119,219...117,125,725
JBrowse link
G Cap1 CAP, adenylate cyclase-associated protein 1 (yeast) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:122,859,048...122,886,076
Ensembl chr 4:122,859,047...122,886,056
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 4:116,596,730...116,600,266
Ensembl chr 4:116,596,654...116,600,266
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 4:117,869,255...117,872,661
Ensembl chr 4:117,866,524...117,872,557
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 4:119,322,468...119,415,521
Ensembl chr 4:119,322,466...119,415,521
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 4:118,432,901...118,437,343
Ensembl chr 4:118,432,901...118,437,352
JBrowse link
G Cdca8 cell division cycle associated 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,918,465...124,936,917
Ensembl chr 4:124,918,465...124,939,311
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 4:118,554,550...118,620,819
Ensembl chr 4:118,554,551...118,620,777
JBrowse link
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,666,563...120,667,820
Ensembl chr 4:120,666,572...120,667,820
JBrowse link
G CK137956 cDNA sequence CK137956 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,927,592...127,988,302
Ensembl chr 4:127,927,592...127,970,951
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,255,441...119,262,438
Ensembl chr 4:119,255,414...119,262,438
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,556,957...126,594,533
Ensembl chr 4:126,556,935...126,593,903
JBrowse link
G Col8a2 collagen, type VIII, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,286,794...126,314,330
Ensembl chr 4:126,286,793...126,314,330
JBrowse link
G Col9a2 collagen, type IX, alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:121,039,566...121,055,325
Ensembl chr 4:121,039,385...121,055,322
JBrowse link
G Csf3r colony stimulating factor 3 receptor (granulocyte) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,023,441...126,044,975
Ensembl chr 4:126,024,550...126,044,440
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 4:127,986,505...128,567,660
Ensembl chr 4:127,987,857...128,567,656
JBrowse link
G Ctps cytidine 5'-triphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,539,868...120,570,276
Ensembl chr 4:120,539,868...120,570,276
JBrowse link
G D830031N03Rik RIKEN cDNA D830031N03 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,403,601...123,411,911 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 4:127,168,305...127,237,022
Ensembl chr 4:127,169,204...127,237,022
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 4:117,674,681...117,682,321
Ensembl chr 4:117,674,681...117,682,273
JBrowse link
G Dnali1 dynein, axonemal, light intermediate polypeptide 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,055,339...125,065,657
Ensembl chr 4:125,055,338...125,065,703
JBrowse link
G Dph2 DPH2 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,888,643...117,892,003
Ensembl chr 4:117,888,643...117,892,032
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 4:117,124,543...117,128,738
Ensembl chr 4:117,126,794...117,128,738
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 4:118,620,799...118,627,776
Ensembl chr 4:118,620,799...118,627,776
JBrowse link
G Edn2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,161,206...120,167,360
Ensembl chr 4:120,161,206...120,167,360
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,019,399...117,086,852
Ensembl chr 4:117,019,402...117,087,306
JBrowse link
G Elovl1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,426,874...118,432,953
Ensembl chr 4:118,428,093...118,432,953
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 4:124,881,530...124,917,801
Ensembl chr 4:124,880,899...124,917,800
JBrowse link
G Eri3 exoribonuclease 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,550,241...117,674,297
Ensembl chr 4:117,550,365...117,674,297
JBrowse link
G Ermap erythroblast membrane-associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,175,457...119,190,013
Ensembl chr 4:119,175,457...119,190,011
JBrowse link
G Eva1b eva-1 homolog B (C. elegans) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,145,709...126,149,875
Ensembl chr 4:126,147,744...126,149,875
JBrowse link
G Exo5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,921,202...120,925,005
Ensembl chr 4:120,921,196...120,925,017
JBrowse link
G Fam183b family with sequence similarity 183, member B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr11:58,783,892...58,802,221
Ensembl chr11:58,792,797...58,801,960
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 4:124,695,964...124,708,611
Ensembl chr 4:124,700,701...124,708,611
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 4:129,136,870...129,144,593
Ensembl chr 4:129,136,999...129,144,593
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 4:119,539,661...119,629,119
Ensembl chr 4:119,537,004...119,629,119
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 4:120,267,078...120,287,261
Ensembl chr 4:120,267,079...120,287,349
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 4:127,311,420...127,314,039
Ensembl chr 4:127,311,421...127,314,039
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 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
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 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
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 4:127,354,809...127,358,164
Ensembl chr 4:127,354,809...127,358,181
JBrowse link
G Gnl2 guanine nucleotide binding protein-like 2 (nucleolar) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,029,989...125,055,382
Ensembl chr 4:125,016,585...125,055,380
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 4:116,557,179...116,593,902
Ensembl chr 4:116,557,658...116,593,882
JBrowse link
G Grik3 glutamate receptor, ionotropic, kainate 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,490,259...125,714,173
Ensembl chr 4:125,490,700...125,714,173
JBrowse link
G Guca2a guanylate cyclase activator 2a (guanylin) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,637,732...119,639,465
Ensembl chr 4:119,637,704...119,639,471
JBrowse link
G Guca2b guanylate cyclase activator 2b (retina) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,656,601...119,658,945
Ensembl chr 4:119,656,607...119,658,954
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 4:116,995,296...117,005,277
Ensembl chr 4:116,995,317...117,005,277
JBrowse link
G Heyl hairy/enhancer-of-split related with YRPW motif-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,233,556...123,249,870
Ensembl chr 4:123,233,556...123,249,875
JBrowse link
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,733,759...120,138,045
Ensembl chr 4:119,733,784...120,138,045
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 4:128,260,212...128,260,895
Ensembl chr 4:128,260,212...128,260,957
JBrowse link
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:129,111,570...129,125,919
Ensembl chr 4:129,111,570...129,122,036
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 4:123,183,504...123,194,699
Ensembl chr 4:123,183,227...123,194,701
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 4:116,819,907...116,821,508
Ensembl chr 4:116,819,904...116,821,707
JBrowse link
G Hyi hydroxypyruvate isomerase (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,359,999...118,362,744
Ensembl chr 4:118,359,990...118,362,744
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 4:124,741,827...124,801,511
Ensembl chr 4:124,741,850...124,801,511
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,893,268...117,915,222
Ensembl chr 4:117,894,486...117,914,999
JBrowse link
G Ipp IAP promoted placental gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,507,512...116,543,410
Ensembl chr 4:116,507,549...116,538,243
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 4:120,696,134...120,747,491
Ensembl chr 4:120,696,138...120,748,612
JBrowse link
G Kdm4a lysine (K)-specific demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,136,957...118,180,090
Ensembl chr 4:118,136,957...118,180,043
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 4:117,159,633...117,182,624
Ensembl chr 4:117,159,639...117,182,639
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 4:117,756,659...117,765,666
Ensembl chr 4:117,757,836...117,765,648
JBrowse link
G Lsm10 U7 snRNP-specific Sm-like protein LSM10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,096,562...126,098,584
Ensembl chr 4:126,096,623...126,098,584
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 4:123,349,633...123,687,802
Ensembl chr 4:123,349,633...123,684,360
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 4:124,855,239...124,880,938
Ensembl chr 4:124,855,239...124,862,171
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 4:126,232,167...126,256,319
Ensembl chr 4:126,232,167...126,256,343
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 4:116,306,760...116,464,223
Ensembl chr 4:116,306,762...116,464,183
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 4:125,085,113...125,113,238
Ensembl chr 4:125,085,134...125,113,238
JBrowse link
G Med8 mediator complex subunit 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,409,282...118,415,824
Ensembl chr 4:118,409,337...118,415,782
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 4:122,946,850...122,961,194
Ensembl chr 4:122,946,850...122,961,188
JBrowse link
G Mir30c-1 microRNA 30c-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,769,534...120,769,622
Ensembl chr 4:120,769,534...120,769,622
JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,702,434...116,708,385
Ensembl chr 4:116,702,279...116,708,406
JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:118,442,412...118,457,688
Ensembl chr 4:118,442,415...118,457,513
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 4:126,046,928...126,055,536
Ensembl chr 4:126,046,925...126,055,532
JBrowse link
G Mtf1 metal response element binding transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,802,549...124,849,800
Ensembl chr 4:124,802,104...124,849,800
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 4:116,807,636...116,819,439
Ensembl chr 4:116,807,723...116,819,440
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 4:123,905,013...123,912,250
Ensembl chr 4:123,904,832...123,912,269
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:122,995,588...123,002,490
Ensembl chr 4:122,995,652...123,002,485
JBrowse link
G Nasp nuclear autoantigenic sperm protein (histone-binding) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,601,052...116,628,676
Ensembl chr 4:116,601,052...116,627,941
JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,743,750...126,753,765
Ensembl chr 4:126,743,750...126,753,438
JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase core subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,712,710...123,718,186
Ensembl chr 4:123,712,710...123,718,202
JBrowse link
G Nfyc nuclear transcription factor-Y gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,757,435...120,831,579
Ensembl chr 4:120,757,438...120,831,572
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 4:123,201,230...123,225,339
Ensembl chr 4:123,201,504...123,216,275
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 4:126,055,643...126,092,195
Ensembl chr 4:126,058,565...126,092,195
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 4:123,116,248...123,118,000
Ensembl chr 4:123,116,266...123,118,000
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 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
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 4:123,282,303...123,298,925
Ensembl chr 4:123,262,351...123,298,925
JBrowse link
G Phc2 polyhomeotic 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,654,655...128,752,881
Ensembl chr 4:128,654,702...128,752,881
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 4:116,221,400...116,303,056
Ensembl chr 4:116,221,618...116,303,056
Ensembl chr 4:116,221,618...116,303,056
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 4:117,128,655...117,133,963
Ensembl chr 4:117,128,655...117,133,963
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Pou3f1 POU domain, class 3, transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,657,646...124,660,655
Ensembl chr 4:124,656,807...124,660,655
JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,418,527...119,422,440
Ensembl chr 4:119,418,530...119,422,420
JBrowse link
G Ppie peptidylprolyl isomerase E (cyclophilin E) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:123,127,114...123,139,990
Ensembl chr 4:123,127,115...123,139,951
JBrowse link
G Ppih peptidyl prolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,300,010...119,320,523
Ensembl chr 4:119,300,010...119,320,546
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 4:122,836,077...122,859,175
Ensembl chr 4:122,836,242...122,859,175
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,685,599...116,700,000
Ensembl chr 4:116,685,544...116,700,822
JBrowse link
G Psmb2 proteasome (prosome, macropain) subunit, beta type 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,677,637...126,709,715
Ensembl chr 4:126,677,630...126,709,714
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,096,056...117,116,101
Ensembl chr 4:117,096,075...117,116,101
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 4:118,208,213...118,291,405
Ensembl chr 4:118,208,213...118,291,405
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 4:123,787,875...123,830,196
Ensembl chr 4:123,787,874...123,829,904
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 4:119,465,283...119,492,598
Ensembl chr 4:119,465,283...119,492,628
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 4:120,854,779...120,896,580
Ensembl chr 4:120,854,816...120,896,579
JBrowse link
G Rlf rearranged L-myc fusion sequence ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:121,145,883...121,215,121
Ensembl chr 4:121,145,373...121,215,084
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 4:129,058,144...129,084,526
Ensembl chr 4:129,058,271...129,085,886
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 4:117,271,463...117,497,052
Ensembl chr 4:117,271,463...117,497,052
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 4:117,153,836...117,156,132
Ensembl chr 4:117,153,827...117,156,243
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 4:123,917,433...123,936,997
Ensembl chr 4:123,917,446...123,936,997
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 4:124,986,401...125,009,102
Ensembl chr 4:124,986,430...125,009,099
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 4:129,148,002...129,189,665
Ensembl chr 4:129,148,005...129,189,727
JBrowse link
G Scmh1 sex comb on midleg homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,405,150...120,530,200
Ensembl chr 4:120,405,281...120,530,186
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 4:124,714,861...124,732,423
Ensembl chr 4:124,714,776...124,732,460
JBrowse link
G Sfpq splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,020,716...127,051,101
Ensembl chr 4:127,021,324...127,037,013
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 4:126,150,602...126,163,518
Ensembl chr 4:126,150,602...126,163,491
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Slc6a9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:117,835,258...117,869,305
Ensembl chr 4:117,834,506...117,875,198
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 4:120,532,024...120,536,662
Ensembl chr 4:120,532,231...120,536,661
JBrowse link
G Smap2 small ArfGAP 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:120,968,317...121,017,289
Ensembl chr 4:120,968,317...121,017,247
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 4:127,243,784...127,247,809
Ensembl chr 4:127,243,784...127,247,809
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:125,066,672...125,074,043
Ensembl chr 4:125,066,672...125,074,042
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 4:117,932,152...118,134,972
Ensembl chr 4:117,932,154...118,134,914
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 4:126,103,942...126,141,029
Ensembl chr 4:126,103,957...126,141,029
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 4:118,362,740...118,409,286
Ensembl chr 4:118,362,743...118,409,273
JBrowse link
G Tekt2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,322,121...126,325,688
Ensembl chr 4:126,322,121...126,325,688
JBrowse link
G Tesk2 testis-specific kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,720,909...116,804,248
Ensembl chr 4:116,720,948...116,805,956
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 4:126,716,003...126,736,269
Ensembl chr 4:126,716,006...126,736,240
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 4:126,164,082...126,202,755
Ensembl chr 4:126,164,082...126,202,760
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 4:118,471,191...118,489,849
Ensembl chr 4:118,471,191...118,490,061
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 4:121,105,651...121,109,217
Ensembl chr 4:121,105,651...121,109,226
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 4:118,540,941...118,544,920
Ensembl chr 4:118,540,941...118,544,044
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 4:127,126,043...127,129,660
Ensembl chr 4:127,123,691...127,129,644
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 4:117,251,951...117,268,588
Ensembl chr 4:117,251,951...117,268,582
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 4:129,105,529...129,111,626
Ensembl chr 4:129,105,548...129,111,626
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 4:116,551,528...116,557,116
Ensembl chr 4:116,551,633...116,555,936
JBrowse link
G Toe1 target of EGR1, member 1 (nuclear) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,804,003...116,807,601
Ensembl chr 4:116,794,310...116,807,640
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 4:126,262,405...126,275,883
Ensembl chr 4:126,262,325...126,275,883
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 4:128,884,044...128,911,326
Ensembl chr 4:128,883,580...128,911,328
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 4:123,016,544...123,054,949
Ensembl chr 4:123,016,597...123,054,949
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:116,989,965...116,994,436
Ensembl chr 4:116,989,965...116,994,413
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 4:124,678,232...124,693,610
Ensembl chr 4:124,678,160...124,693,600
JBrowse link
G Yars tyrosyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C
ClinVar Annotator: match by OMIM:608323
OMIM
ClinVar
PMID:9536098 PMID:14606043 PMID:16429158 PMID:17576681 PMID:19561293 PMID:21384131 PMID:23806086 PMID:24088041 PMID:25326637 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27027447 PMID:28492532 NCBI chr 4:129,189,734...129,219,240
Ensembl chr 4:129,189,760...129,219,607
JBrowse link
G Ybx1 Y box protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,277,327...119,296,265
Ensembl chr 4:119,277,981...119,294,604
JBrowse link
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:124,850,759...124,855,242
Ensembl chr 4:124,850,679...124,855,242
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 4:125,118,414...125,127,881
Ensembl chr 4:125,118,423...125,127,840
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 4:128,773,085...128,806,112
Ensembl chr 4:128,773,088...128,806,045
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 4:120,930,133...120,951,701
Ensembl chr 4:120,930,137...120,951,699
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 4:119,169,516...119,174,195
Ensembl chr 4:119,169,513...119,174,195
JBrowse link
G Zfp809 zinc finger protein 809 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 9:22,225,667...22,254,117
Ensembl chr 9:22,225,714...22,243,354
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 4:121,059,237...121,098,249
Ensembl chr 4:121,059,237...121,098,241
JBrowse link
G Zmym1 zinc finger, MYM domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,047,094...127,061,176
Ensembl chr 4:127,047,094...127,061,152
JBrowse link
G Zmym4 zinc finger, MYM-type 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:126,861,819...126,969,377
Ensembl chr 4:126,861,939...126,968,135
JBrowse link
G Zmym6 zinc finger, MYM-type 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:127,077,383...127,124,374
Ensembl chr 4:127,077,383...127,124,372
JBrowse link
G Zmynd12 zinc finger, MYND domain containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:119,422,611...119,453,899
Ensembl chr 4:119,422,814...119,467,444
JBrowse link
G Zscan20 zinc finger and SCAN domains 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C ClinVar PMID:28492532 NCBI chr 4:128,578,670...128,610,153
Ensembl chr 4:128,583,539...128,610,098
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 4:116,877,402...116,989,105
Ensembl chr 4:116,877,376...116,989,264
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 chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
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, FH2 and WH2 domain containing 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 chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
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 guanine nucleotide binding protein (G protein), beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate F OMIM
ClinVar
PMID:23434117 PMID:25741868 PMID:27549087 PMID:27908631 PMID:28492532 PMID:28642160 PMID:31211173 NCBI chr 3:32,578,587...32,616,673
Ensembl chr 3:32,580,332...32,616,585
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 polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
OMIM
ClinVar
PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 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 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
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 1700013F07Rik RIKEN cDNA 1700013F07 gene IEA MouseDO NCBI chr 3:108,537,584...108,544,697
Ensembl chr 3:108,534,150...108,544,723
JBrowse link
G Clcn1 chloride channel, voltage-sensitive 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 6:42,284,851...42,315,764
Ensembl chr 6:42,286,685...42,315,756
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
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 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
JBrowse link
G Ighmbp2 immunoglobulin mu binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
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 chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
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 chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
JBrowse link
G Yars tyrosyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate ClinVar PMID:28492532 NCBI chr 4:129,189,734...129,219,240
Ensembl chr 4:129,189,760...129,219,607
JBrowse link
Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: RI-CMTA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate A
ClinVar Annotator: match by OMIM:608340
OMIM
ClinVar
PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 PMID:17039978 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 NCBI chr 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
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 chr 8:111,993,439...112,011,354
Ensembl chr 8:111,993,443...112,011,323
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 domain containing, family G (with RhoGef domain) member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c
ClinVar Annotator: match by OMIM:615376
OMIM
ClinVar
PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 PMID:28492532 NCBI chr 4:152,072,433...152,115,404
Ensembl chr 4:152,072,498...152,115,400
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
IEA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate d
OMIM:616039
ClinVar
MouseDO
OMIM
PMID:25152455 PMID:25741868 PMID:26302975 NCBI chr 5:115,345,652...115,348,958
Ensembl chr 5:115,345,642...115,348,981
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 Aars alanyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 8:111,027,778...111,055,569
Ensembl chr 8:111,033,144...111,057,664
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 chr11:62,951,193...62,993,095
Ensembl chr11:62,951,193...62,993,095
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:9537424 PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:12471219 PMID:12525712 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20513111 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26204789 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27549087 PMID:28492532 PMID:30481651 PMID:30843326 NCBI chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
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 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
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 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
JBrowse link
G Hs3st3b1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:1303230 PMID:1677316 PMID:1822787 PMID:28492532 NCBI chr11:63,884,693...63,922,284
Ensembl chr11:63,885,792...63,922,290
JBrowse link
G Ighmbp2 immunoglobulin mu binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar PMID:25439726 PMID:26922252 PMID:28492532 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Litaf LPS-induced TN factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 ClinVar NCBI chr16:10,959,273...10,993,121
Ensembl chr16:10,959,275...11,066,157
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 2:32,925,215...32,961,654
Ensembl chr 2:32,925,216...32,961,614
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr11:3,649,189...3,690,477
Ensembl chr11:3,649,191...3,690,477
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:9536098 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:10885340 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:17576681 PMID:17602703 PMID:17663472 PMID:17915947 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18380021 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: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:28166811 PMID:28286897 PMID:28492532 PMID:29465609 PMID:29670817 PMID:29687021 PMID:31173589 PMID:31393079 NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G Nefl neurofilament, light polypeptide 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 chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1
ClinVar PMID:1303230 PMID:1303281 PMID:1552943 PMID:1564512 PMID:1677316 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:9544841 PMID:9585367 PMID:9678704 PMID:9712007 PMID:9748013 PMID:9888385 PMID:10078969 PMID:10211478 PMID:10330345 PMID:10399754 PMID:10586280 PMID:10915775 PMID:10982389 PMID:11081809 PMID:11314784 PMID:11545686 PMID:11920834 PMID:12090404 PMID:12207933 PMID:12796555 PMID:12901701 PMID:14502374 PMID:15099592 PMID:15285778 PMID:15474367 PMID:15537650 PMID:16437560 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:21962505 PMID:22006697 PMID:22190321 PMID:23224996 PMID:23263778 PMID:23689413 PMID:23965407 PMID:25385046 PMID:25400662 PMID:25614874 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:28286897 PMID:28333917 PMID:28374912 PMID:28492532 PMID:28748849 PMID:28981955 PMID:30675404 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
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 7:27,499,305...27,520,041
Ensembl chr 7:27,497,388...27,520,214
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein 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 chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I ClinVar NCBI chr11:117,199,661...117,362,325
Ensembl chr11:117,199,661...117,362,325
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 chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
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 chr11:63,061,659...63,094,960
Ensembl chr11:63,061,654...63,094,964
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 chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 chr11:62,951,193...62,993,095
Ensembl chr11:62,951,193...62,993,095
JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:63,962,627...64,079,472
Ensembl chr11:63,962,627...64,079,468
JBrowse link
G Fbxw10 F-box and WD-40 domain protein 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:62,847,067...62,877,464
Ensembl chr11:62,847,069...62,877,465
JBrowse link
G Hs3st3b1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:63,884,693...63,922,284
Ensembl chr11:63,885,792...63,922,290
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IEA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA
ClinVar Annotator: match by term: HMSN 1A
OMIM:118220
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
MouseDO
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:10078969 PMID:10489052 PMID:10586280 PMID:11081809 PMID:11835375 PMID:12090404 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:21962505 PMID:22006697 PMID:23689413 PMID:23965407 PMID:25385046 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:28333917 PMID:28492532 PMID:30675404 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr11:63,061,659...63,094,960
Ensembl chr11:63,061,654...63,094,964
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
IEA
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 disease, type 1b, with focally folded myelin sheaths
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
OMIM:118200
ClinVar
MouseDO
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:17030746 PMID:17143884 PMID:17172621 PMID:17294201 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: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 NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b ClinVar PMID:26378787 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
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 LPS-induced TN factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1C
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:601098
OMIM
ClinVar
PMID:1407588 PMID:1678513 PMID:2239969 PMID:9536098 PMID:12525712 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16118794 PMID:16373087 PMID:16787513 PMID:17576681 PMID:19541485 PMID:20709679 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:28166811 PMID:28211240 PMID:28492532 NCBI chr16:10,959,273...10,993,121
Ensembl chr16:10,959,275...11,066,157
JBrowse link
G Nefl neurofilament, light polypeptide 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 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
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 chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
IEA
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
OMIM:118300
ClinVar
OMIM
MouseDO
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 chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
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 polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
ClinVar Annotator: match by OMIM:607734
OMIM
ClinVar
PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 PMID:16452125 PMID:16930284 PMID:17052987 PMID:19158810 PMID:19286384 PMID:20039262 PMID:21168446 PMID:21840889 PMID:24078732 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:26645395 PMID:27206872 PMID:28492532 PMID:28501821 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmp2 peripheral myelin protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
ClinVar Annotator: match by term: Pmp2-related charcot-marie-tooth disease type 1
ClinVar
OMIM
PMID:23806086 PMID:24088041 PMID:26257172 PMID:26828946 PMID:27009151 PMID:28747762 PMID:30249361 NCBI chr 3:10,179,851...10,183,885
Ensembl chr 3:10,179,851...10,183,929
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 Aars alanyl-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:9536098 PMID:17576681 PMID:20045102 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:25025039 PMID:25326637 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27164712 PMID:27549087 PMID:28166811 PMID:28492532 PMID:28493438 PMID:29653220 PMID:30124830 PMID:30373780 NCBI chr 8:111,027,778...111,055,569
Ensembl chr 8:111,033,144...111,057,664
JBrowse link
G Arhgef2 rho/rac guanine nucleotide exchange factor (GEF) 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,593,105...88,649,532
Ensembl chr 3:88,605,966...88,648,052
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 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:1674639 PMID:5964029 PMID:9536098 PMID:11916958 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:17576681 PMID:18057387 PMID:18585921 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 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:25832430 PMID:26282322 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:27868354 PMID:28166811 PMID:28362824 PMID:28492532 PMID:28832565 PMID:29336362 PMID:29482223 PMID:31372974 PMID:31475473 NCBI chr19:8,837,467...8,848,683
Ensembl chr19:8,837,467...8,848,683
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 chr 8:110,846,600...110,882,234
Ensembl chr 8:110,846,600...110,882,227
JBrowse link
G Col12a1 collagen, type XII, alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 9:79,598,987...79,721,141
Ensembl chr 9:79,598,991...79,718,831
JBrowse link
G Ddx19a DEAD box helicase 19a ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:110,974,991...110,997,823
Ensembl chr 8:110,974,996...110,997,800
JBrowse link
G Ddx19b DEAD box helicase 19b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:111,003,186...111,031,751
Ensembl chr 8:111,003,188...111,031,751
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 chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:110,882,456...110,902,488
Ensembl chr 8:110,882,456...110,902,488
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17576681 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:28166811 PMID:28492532 PMID:28594869 PMID:28708278 PMID:29648643 PMID:31985473 PMID:32181591 NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
JBrowse link
G Gm22193 predicted gene, 22193 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:110,842,383...110,842,458
Ensembl chr 8:110,842,383...110,842,458
JBrowse link
G Gm22897 predicted gene, 22897 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 5:4,985,111...4,985,238
Ensembl chr 5:4,985,111...4,985,237
Ensembl chr 5:4,985,111...4,985,237
JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:110,741,829...110,805,949
Ensembl chr 8:110,741,829...110,805,924
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 3:88,685,428...88,712,933
Ensembl chr 3:88,685,803...88,712,924
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 PMID:25025039 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29590070 PMID:30126838 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
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 3:88,549,819...88,552,951
Ensembl chr 3:88,549,819...88,553,074
JBrowse link
G Lmna lamin A 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:9536098 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:11342468 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:13129702 PMID:14569138 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15148145 PMID:15184648 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:17576681 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:21465660 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:24002959 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:25371241 PMID:25448463 PMID:25469153 PMID:25524705 PMID:25567453 PMID:25572245 PMID:25617006 PMID:25637381 PMID:25656816 PMID:25741868 PMID:25793944 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:27111165 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:27707468 PMID:27723096 PMID:27813223 PMID:27841901 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:29386531 PMID:29432544 PMID:29438482 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:30402260 PMID:30420677 PMID:30453078 PMID:30488537 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30901896 PMID:30954027 PMID:31019283 PMID:31296869 PMID:31303467 PMID:31383942 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31847799 PMID:32004434 PMID:32456328 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 2:32,925,215...32,961,654
Ensembl chr 2:32,925,216...32,961,614
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:9536098 PMID:17576681 PMID:25488817 PMID:25527630 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 PMID:30800049 NCBI chr 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
JBrowse link
G Mex3a mex3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,531,946...88,541,394
Ensembl chr 3:88,532,395...88,541,396
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 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:17576681 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:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25640679 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:28166811 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:30642740 PMID:30882371 PMID:31188717 PMID:31211173 PMID:32963807 PMID:198122151 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
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 3:88,394,138...88,410,445
Ensembl chr 3:88,394,143...88,410,331
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 3:88,542,029...88,548,279
Ensembl chr 3:88,542,029...88,548,300
JBrowse link
G Rab7 RAB7, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 6:87,999,106...88,045,270
Ensembl chr 6:87,999,106...88,045,270
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 3:88,716,842...88,731,048
Ensembl chr 3:88,716,838...88,731,049
JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,651,898...88,653,142
Ensembl chr 3:88,651,898...88,653,142
JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,435,959...88,461,182
Ensembl chr 3:88,435,959...88,461,182
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 chr 8:110,810,491...110,846,806
Ensembl chr 8:110,810,239...110,846,787
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 3:88,410,494...88,425,141
Ensembl chr 3:88,410,498...88,425,139
JBrowse link
G Snord111 small nucleolar RNA, C/D box 111 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 8:110,838,535...110,838,598
Ensembl chr 8:110,838,528...110,838,616
JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,579,608...88,588,420
Ensembl chr 3:88,575,876...88,588,419
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 chr 8:110,919,743...110,974,058
Ensembl chr 8:110,919,922...110,972,480
JBrowse link
G Tfg Trk-fused gene ISS
ISO
OMIM:118230 | OMIM:604484
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Okinawa type
MouseDO
ClinVar
PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28166811 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 NCBI chr16:56,690,329...56,717,467
Ensembl chr16:56,690,332...56,717,450
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 chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:28492532 NCBI chr 3:88,553,677...88,569,725
Ensembl chr 3:88,553,758...88,569,725
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
IEA
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A1
OMIM:118210
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by OMIM:118210
OMIM
ClinVar
MouseDO
PMID:9409358 PMID:11389829 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29590070 PMID:30126838, PMID:11389829 RGD:12738406 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO DNA: missense mutations, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15064763 PMID:16043786 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17296794 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19889647 PMID:20008656 PMID:20350294 PMID:20482598 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:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26085578 PMID:26114802 PMID:26143526 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:31188717, PMID:22206013 RGD:12738379 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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
IEA
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A
OMIM:609260
OMIM
ClinVar
MouseDO
PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11148244 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:18316077 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: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:21987543 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22851605 PMID:22926664 PMID:23733358 PMID:23806086 PMID:24033266 PMID:24053775 PMID:24088041 PMID:24126688 PMID:24450158 PMID:24473995 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 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:30882371 PMID:31188717 PMID:32963807 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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:15549395 PMID:16043786 PMID:16835246 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19812251 PMID:20008656 PMID:20350294 PMID:20482598 PMID:21326314 PMID:21531138 PMID:21715711 PMID:21840889 PMID:22492563 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24803844 PMID:24957169 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26257172 PMID:26307494 PMID:26382835 PMID:26467025 PMID:26633545 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:30158064 PMID:32214227 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 1810020O05Rik Riken cDNA 1810020O05 gene ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 6:87,675,590...87,722,747
Ensembl chr 6:87,675,590...87,722,801
JBrowse link
G Acad9 acyl-Coenzyme A dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 3:36,065,979...36,092,857
Ensembl chr 3:36,065,979...36,092,853
JBrowse link
G Rab7 RAB7, 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:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 PMID:17576681 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 6:87,999,106...88,045,270
Ensembl chr 6:87,999,106...88,045,270
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 ISO
IEA
DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
OMIM:605588
ClinVar
MouseDO
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: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:21465660 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:14607793 RGD:1358482 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
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:270665