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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Charcot-Marie-Tooth disease
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Accession:DOID:10595 term browser browse the term
Definition:A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Synonyms:exact_synonym: CMT - Charcot-Marie-Tooth disease;   Charcot Marie Tooth hereditary neuropathy;   Charcot Marie Tooth muscular atrophy;   Charcot Marie Tooth syndrome;   Charcot Marie disease;   Roussy Levy disease;   Roussy Levy hereditary areflexic dystasia;   Roussy Levy syndrome;   hereditary areflexic dystasia;   hereditary areflexic dystasias;   peroneal muscular atrophies;   peroneal muscular atrophy
 primary_id: MESH:D002607
 alt_id: MIM:180800
 xref: EFO:0004148;   GARD:6034;   ICD9CM:356.1;   MIM:PS118220;   MONDO:0015626;   NCI:C75467
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 PMID:21494555 More... NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G ARF1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280 PMID:24078732 NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10319589 PMID:24627108 PMID:25025039 PMID:25164601 PMID:25741868 More... NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679 PMID:25741868 NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 More... NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885 PMID:28492532 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 More... NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573
JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253 PMID:18812314 PMID:19506225 PMID:23143281 PMID:24604904 More... NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
JBrowse link
G DHX9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833
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:26752306 More... NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15731758 PMID:16227997 PMID:17636067 PMID:18394888 PMID:18414213 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7898717 PMID:10210919 PMID:21532572 PMID:23365052 PMID:23521649 More... NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:90,422,483...90,467,610
Ensembl chr  X:100,558,208...100,603,233
JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 6:56,014,832...56,513,346
Ensembl chr 6:57,646,402...58,039,636
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 More... NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
JBrowse link
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:143,814,446...143,873,919
Ensembl chr 5:149,834,109...149,881,903
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:20301641 More... NCBI chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:19118816 More... NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
JBrowse link
G GAN gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 NCBI chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:257 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G GJB1 gap junction protein beta 1 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: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar PMID:1211842 PMID:2987105 PMID:7477983 PMID:7580242 PMID:7833935 More... NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr 3:176,428,475...176,483,905
Ensembl chr 3:184,601,229...184,630,913
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 chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 More... NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823
JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 More... NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
JBrowse link
G IFRD1 interferon related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 7:104,412,763...104,438,490
Ensembl chr 7:117,115,187...117,141,887
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 More... NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 More... NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 PMID:28492532 NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 More... NCBI chr16:10,488,738...10,527,843
Ensembl chr16:11,714,325...11,750,521
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:2526018 PMID:2733290 PMID:8621584 PMID:9500556 PMID:9536098 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 More... NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 More... NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
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 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
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 PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35212467 NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632
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 OMIM
ClinVar
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 More... NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10094189 PMID:15933803 PMID:23430803 PMID:25741868 PMID:28492532 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 More... NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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 1:87,223,597...87,276,759 JBrowse link
G NRG1 neuregulin 1 treatment ISO RGD PMID:25150498 RGD:10449027 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:77656 PMID:3472625 PMID:10330344 PMID:10982191 PMID:11139246 More... Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20553714 RGD:5684901 NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:17,062,278...17,147,489
Ensembl chr  X:24,430,028...24,504,730
JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343
JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia OMIM
ClinVar
PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 More... NCBI chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469
JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987
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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 More... NCBI chr 3:125,784,604...125,873,051 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:25741868 PMID:28492532 NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984
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 PMID:31737055 More... NCBI chr 5:16,774,596...16,920,948 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 PMID:25741868 NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
JBrowse link
G SBF2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9521281 PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 More... NCBI chr11:9,910,020...10,426,842
Ensembl chr11:9,641,471...10,154,501
JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 More... NCBI chr 3:38,741,485...38,948,400
Ensembl chr 3:39,024,921...39,128,015
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 More... NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736
JBrowse link
G SEMA5A semaphorin 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 5:9,349,473...9,852,183
Ensembl chr 5:9,168,549...9,564,356
JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25025039 PMID:28492532 NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15732101 PMID:16717225 PMID:19696032 PMID:25025039 PMID:25741868 More... NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:3000192 PMID:9536098 PMID:14574644 PMID:16326826 PMID:16806930 More... NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1660691 PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 More... NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 5:106,106,112...106,132,355
Ensembl chr 5:111,908,842...111,935,029
JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7420092 PMID:11294660 PMID:23141292 NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
JBrowse link
G SORD sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32367058 NCBI chr15:23,971,017...24,025,043 JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11026454 PMID:16504559 NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868 NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8673084 PMID:10025779 PMID:11242106 PMID:11242114 PMID:11479835 More... NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:17081983 PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 More... NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
JBrowse link
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO protein:increased expression:serum RGD PMID:21659498 RGD:7205513 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:8179305 More... NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
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 chr12:825,659...985,016
Ensembl chr12:791,153...944,602
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:25741868 More... NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr 5:143,814,446...143,873,919
Ensembl chr 5:149,834,109...149,881,903
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 More... NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A OMIM
ClinVar
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 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: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr14:12,338,341...12,628,346 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 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr22:10,525,738...10,536,788 JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C OMIM
ClinVar
PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:6628444 More... NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFH neurofilament heavy chain susceptibility ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition ClinVar
OMIM
PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 More... NCBI chr22:10,525,738...10,536,788 JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder OMIM
ClinVar
PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 More... NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2FF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF OMIM
ClinVar
PMID:25741868 PMID:33889941 NCBI chr 1:134,522,614...134,552,959
Ensembl chr 1:138,319,952...138,350,307
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2HH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH OMIM
ClinVar
PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition OMIM
ClinVar
PMID:9536098 PMID:12368912 PMID:12838516 PMID:16606917 PMID:17576681 More... NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
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 ACOX1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
JBrowse link
G ELOC elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,479,805...70,506,142
Ensembl chr 8:72,121,035...72,151,085
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | 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
ClinVar
PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K OMIM
ClinVar
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 8:70,768,560...70,855,068
Ensembl chr 8:72,413,794...72,505,309
JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr14:12,338,341...12,628,346 JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239
JBrowse link
G UBE2W ubiquitin conjugating enzyme E2 W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 8:70,315,767...70,413,148 JBrowse link
Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
JBrowse link
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N OMIM
ClinVar
PMID:7842019 PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 More... NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N ClinVar PMID:21494555 PMID:28492532 NCBI chr11:58,980,645...59,029,720
Ensembl chr11:62,337,788...62,380,598
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 ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 Ensembl chr14:105,169,769...105,190,333 JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,587,016...85,627,319 JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352
JBrowse link
G ANKRD9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,122,024...83,128,173 JBrowse link
G ASPG asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589
JBrowse link
G ATP5MJ ATP synthase membrane subunit j ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,538,422...84,547,088
Ensembl chr14:104,347,462...104,355,108
JBrowse link
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,182,879...84,189,180
Ensembl chr14:103,997,524...103,998,927
JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
JBrowse link
G BTBD6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,883,988...85,886,491 JBrowse link
G C15H14orf180 chromosome 15 C14orf180 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,226,995...85,242,300
Ensembl chr14:105,023,477...105,033,370
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989
JBrowse link
G CDCA4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397
JBrowse link
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523
JBrowse link
G CINP cyclin dependent kinase 2 interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,969,659...82,984,299
Ensembl chr14:102,786,775...102,801,135
JBrowse link
G CKB creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,145,931...84,149,093 JBrowse link
G CLBA1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O OMIM
ClinVar
PMID:9536098 PMID:10862709 PMID:12730604 PMID:16199547 PMID:17576681 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G EIF5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,960,299...83,969,352
Ensembl chr14:103,773,309...103,783,403
JBrowse link
G EXOC3L4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,716,816...83,732,656
Ensembl chr14:103,535,510...103,545,316
JBrowse link
G GPR132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,697,589...85,716,764 JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
JBrowse link
G KIF26A kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,762,903...84,807,440
Ensembl chr14:104,570,327...104,611,245
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230
JBrowse link
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,012,076...84,130,136
Ensembl chr14:103,823,900...103,941,529
JBrowse link
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
JBrowse link
G NUDT14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
JBrowse link
G PLD4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247
JBrowse link
G PPP1R13B protein phosphatase 1 regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,359,917...84,474,892
Ensembl chr14:104,168,873...104,232,974
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:25817843 PMID:28492532 NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978
JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,209,992...83,346,783 JBrowse link
G RD3L RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,565,729...84,567,999
Ensembl chr14:104,373,820...104,375,711
JBrowse link
G SIVA1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
JBrowse link
G TDRD9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,553,807...84,677,904
Ensembl chr14:104,388,558...104,483,552
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G TMEM179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,241,752...85,254,473
Ensembl chr14:105,034,292...105,048,932
JBrowse link
G TNFAIP2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670
JBrowse link
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,151,067...84,167,111
Ensembl chr14:103,966,755...103,974,697
JBrowse link
G WDR20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,759,715...82,843,491
Ensembl chr14:102,577,138...102,660,459
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
JBrowse link
G ZFYVE21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 NCBI chr14:84,341,941...84,359,831
Ensembl chr14:104,161,904...104,168,787
JBrowse link
G ZNF839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532 PMID:30510536 NCBI chr14:82,939,031...82,962,369
Ensembl chr14:102,762,698...102,779,447
JBrowse link
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P OMIM
ClinVar
PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q OMIM
ClinVar
PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
JBrowse link
Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition OMIM
ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
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 chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition OMIM
ClinVar
PMID:15464186 PMID:16199547 PMID:24033266 PMID:25565308 PMID:25741868 More... NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,187,821...31,201,594 JBrowse link
G APOF apolipoprotein F ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,552,589...32,554,943
Ensembl chr12:32,806,130...32,807,641
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589 NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
JBrowse link
G BAZ2A bromodomain adjacent to zinc finger domain 2A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,274,240...32,313,839
Ensembl chr12:32,529,634...32,566,248
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,316,968...31,322,340
Ensembl chr12:31,577,001...31,579,669
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:31,404,783...31,415,595 JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GLS2 glutaminase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
JBrowse link
G GPR182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806
JBrowse link
G HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,117,696...32,155,740
Ensembl chr12:32,371,489...32,408,860
JBrowse link
G IL23A interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G LOC100995452 nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510
JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,167,057...31,174,930 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,396,733...31,404,126
Ensembl chr12:31,655,461...31,664,638
JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,154,374...31,158,175
Ensembl chr12:31,414,941...31,418,588
JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,459,965...32,465,465
Ensembl chr12:32,713,470...32,718,026
JBrowse link
G MYO1A myosin IA ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,875,570...31,899,279
Ensembl chr12:32,130,708...32,152,335
JBrowse link
G NAB2 NGFI-A binding protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:32,085,031...32,091,498 JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,686,325...31,692,483
Ensembl chr12:31,940,681...31,944,813
JBrowse link
G NEMP1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,849,235...31,872,130
Ensembl chr12:32,102,141...32,125,141
JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,700,935...31,710,526
Ensembl chr12:31,953,259...31,962,757
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,205,239...31,232,769
Ensembl chr12:31,463,716...31,493,076
JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,581,728...32,598,445
Ensembl chr12:32,835,235...32,853,645
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,323,346...31,335,626
Ensembl chr12:31,584,534...31,594,808
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PRIM1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,155,541...32,176,363
Ensembl chr12:32,408,929...32,428,734
JBrowse link
G PTGES3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,221,908...32,247,228
Ensembl chr12:32,476,835...32,503,181
JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,494,789...31,672,343
Ensembl chr12:31,868,368...31,923,910
JBrowse link
G RBMS2 RNA binding motif single stranded interacting protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,295,878...32,390,287 JBrowse link
G RDH16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,958,385...31,966,319
Ensembl chr12:32,212,746...32,219,624
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,983,412...31,994,584
Ensembl chr12:32,236,402...32,247,688
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
JBrowse link
G SPRYD4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,443,657...32,446,127
Ensembl chr12:32,696,670...32,699,160
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G TAC3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,911,231...31,917,786
Ensembl chr12:32,164,278...32,170,834
JBrowse link
G TIMELESS timeless circadian regulator ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:32,465,529...32,497,581
Ensembl chr12:32,718,649...32,750,728
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
JBrowse link
G ZBTB39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U ClinVar PMID:28492532 NCBI chr12:31,921,227...31,928,944
Ensembl chr12:32,176,096...32,178,234
JBrowse link
Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z OMIM
ClinVar
PMID:7964809 PMID:9536098 PMID:12601114 PMID:16199547 PMID:17576681 More... NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32937143 NCBI chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439
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 ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203
JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,787,457...10,790,090
Ensembl chr19:11,498,069...11,500,400
JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033
JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,893,751...10,902,271
Ensembl chr19:11,604,405...11,612,516
JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,084,862...11,096,374
Ensembl chr19:11,796,523...11,807,680
JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,529,830...12,536,052 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia OMIM
ClinVar
PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,052,057...11,075,308
Ensembl chr19:11,763,701...11,786,743
JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,997,557...11,027,182
Ensembl chr19:11,711,767...11,737,764
JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,099,049...11,105,333 JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244
JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564
JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908
JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612
JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LOC100986306 zinc finger protein 563 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,876,162...11,892,400
Ensembl chr19:12,638,203...12,653,371
JBrowse link
G LOC100986980 zinc finger protein 763 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,525,905...11,529,331
Ensembl chr19:12,283,031...12,296,554
JBrowse link
G LOC100988443 zinc finger protein 823 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,268,763...11,286,973
Ensembl chr19:11,978,214...11,995,986
JBrowse link
G LOC100988783 zinc finger protein 441 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,314,513...11,332,116
Ensembl chr19:12,024,203...12,041,081
JBrowse link
G LOC103785277 zinc finger protein 433 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,563,747...11,585,319
Ensembl chr19:12,332,398...12,353,203
JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309
JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569
JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728
JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,869,402...10,887,005
Ensembl chr19:11,579,669...11,597,158
JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482
JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,932,016...10,966,701
Ensembl chr19:11,652,700...11,685,293
JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514
JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,695,488...10,705,849 JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422
JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,920,774...10,923,769
Ensembl chr19:11,632,682...11,634,202
JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,482,351...10,483,890 JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,890,020...10,893,608
Ensembl chr19:11,601,256...11,604,203
JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866
JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,666,426...12,679,454 JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,844,955...10,864,526
Ensembl chr19:11,555,377...11,584,606
JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
JBrowse link
G ZNF136 zinc finger protein 136 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,752,504...11,796,167
Ensembl chr19:12,490,274...12,516,458
Ensembl chr19:12,490,274...12,516,458
JBrowse link
G ZNF20 zinc finger protein 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,687,783...11,702,790
Ensembl chr19:12,456,470...12,467,459
JBrowse link
G ZNF443 zinc finger protein 443 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,991,563...12,021,852 JBrowse link
G ZNF490 zinc finger protein 490 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,138,375...12,173,313
Ensembl chr19:12,889,625...12,919,759
JBrowse link
G ZNF491 zinc finger protein 491 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,346,661...11,356,232 JBrowse link
G ZNF564 zinc finger protein 564 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,088,249...12,141,600
Ensembl chr19:12,836,581...12,861,815
JBrowse link
G ZNF625 zinc finger protein 625 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,695,318...11,715,239
Ensembl chr19:12,466,592...12,483,466
JBrowse link
G ZNF627 zinc finger protein 627 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,121,041...11,165,305
Ensembl chr19:11,853,313...11,875,349
JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,029,561...11,051,967
Ensembl chr19:11,740,585...11,763,707
JBrowse link
G ZNF709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,026,842...12,076,648 JBrowse link
G ZNF791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:12,173,427...12,195,067 JBrowse link
G ZNF878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B ClinVar PMID:28492532 NCBI chr19:11,592,589...11,602,765
Ensembl chr19:12,361,219...12,369,278
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A3GALT2 alpha 1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,592,614...32,598,986 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 1:35,354,721...35,360,029
Ensembl chr 1:36,529,051...36,534,235
JBrowse link
G AGO1 argonaute RISC component 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,148,984...35,196,252
Ensembl chr 1:36,324,733...36,360,832
JBrowse link
G AGO3 argonaute RISC catalytic component 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,196,371...35,322,220
Ensembl chr 1:36,372,221...36,497,190
JBrowse link
G AIRIM AFG2 interacting ribosome maturation factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,954,580...36,965,289
Ensembl chr 1:38,301,427...38,314,400
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 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
JBrowse link
G AKIRIN1 akirin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,269,096...38,283,920
Ensembl chr 1:39,616,036...39,629,300
JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,853,867...44,871,764
Ensembl chr 1:46,211,859...46,230,072
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 1:43,977,208...44,028,404
Ensembl chr 1:45,343,447...45,393,811
JBrowse link
G ARTN artemin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,233,097...43,239,044 JBrowse link
G ATP6V0B ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,276,696...43,280,099
Ensembl chr 1:44,647,822...44,651,482
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 1:32,365,430...32,404,880
Ensembl chr 1:33,550,140...33,589,402
JBrowse link
G B4GALT2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,281,011...43,292,992
Ensembl chr 1:44,652,906...44,664,401
JBrowse link
G BEST4 bestrophin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,087,062...44,104,995
Ensembl chr 1:45,452,078...45,456,691
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 1:39,047,766...39,079,496 JBrowse link
G BTBD19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,110,664...44,118,397
Ensembl chr 1:45,478,464...45,484,207
JBrowse link
G C1H1orf122 chromosome 1 C1orf122 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,082,486...37,084,170 JBrowse link
G C1H1orf210 chromosome 1 C1orf210 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,583,297...42,587,987
Ensembl chr 1:43,960,676...43,964,384
JBrowse link
G C1H1orf216 chromosome 1 C1orf216 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,984,297...34,989,601
Ensembl chr 1:36,163,376...36,164,065
JBrowse link
G C1H1orf50 chromosome 1 C1orf50 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,065,931...42,080,656
Ensembl chr 1:43,443,611...43,452,684
JBrowse link
G C1H1orf94 chromosome 1 C1orf94 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:33,443,953...33,496,830
Ensembl chr 1:34,637,104...34,678,740
JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,325,715...39,358,365
Ensembl chr 1:40,651,262...40,683,777
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 1:44,921,301...44,926,090
Ensembl chr 1:46,279,879...46,283,930
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 1:43,293,426...43,298,371
Ensembl chr 1:44,664,832...44,669,409
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 1:41,782,720...41,954,106
Ensembl chr 1:43,200,640...43,332,018
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 1:42,660,338...42,664,618
Ensembl chr 1:44,039,971...44,044,497
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 1:36,965,470...36,982,761
Ensembl chr 1:38,314,597...38,331,625
JBrowse link
G CFAP144 cilia and flagella associated protein 144 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,446,359...42,455,170
Ensembl chr 1:43,820,716...43,832,236
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 1:42,470,987...42,556,101
Ensembl chr 1:43,848,369...43,933,279
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 1:40,154,556...40,156,846 JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448
JBrowse link
G CLSPN claspin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544
JBrowse link
G COL8A2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541
JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,596,050...39,613,316
Ensembl chr 1:40,918,814...40,935,953
JBrowse link
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612
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 1:32,800,267...33,443,599
Ensembl chr 1:33,989,876...34,625,977
JBrowse link
G CTPS1 CTP synthase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455
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 1:34,131,692...34,195,856
Ensembl chr 1:35,314,112...35,352,982
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 1:43,516,839...43,524,206
Ensembl chr 1:44,886,307...44,893,598
JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,829,963...36,839,898
Ensembl chr 1:38,179,381...38,189,378
JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545
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 1:44,110,060...44,111,524
Ensembl chr 1:45,476,034...45,476,705
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 1:42,462,907...42,470,949
Ensembl chr 1:43,839,917...43,848,352
JBrowse link
G EDN2 endothelin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,154,600...44,290,407
Ensembl chr 1:45,525,137...45,650,259
JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,664,818...42,686,475
Ensembl chr 1:44,044,693...44,048,769
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 1:36,987,683...37,038,611
Ensembl chr 1:38,337,871...38,386,946
JBrowse link
G ERI3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,524,620...43,658,121
Ensembl chr 1:44,894,011...45,027,194
JBrowse link
G ERMAP erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,115,812...42,143,314
Ensembl chr 1:43,505,756...43,520,622
JBrowse link
G EVA1B eva-1 homolog B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,589,717...35,591,312
Ensembl chr 1:36,753,593...36,754,896
JBrowse link
G EXO5 exonuclease 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,798,164...39,805,509 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 1:37,270,357...37,279,144
Ensembl chr 1:38,618,231...38,626,543
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 1:32,152,828...32,161,447
Ensembl chr 1:33,338,886...33,347,284
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 1:41,475,482...41,637,478
Ensembl chr 1:42,855,058...42,992,584
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 1:40,659,371...40,681,778 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 1:34,059,901...34,063,181 JBrowse link
G GJA9 gap junction protein alpha 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,146,515...38,159,985
Ensembl chr 1:39,492,609...39,494,156
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 1:34,048,136...34,053,298 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 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
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 1:34,022,109...34,025,606
Ensembl chr 1:35,205,953...35,206,774
JBrowse link
G GNL2 G protein nucleolar 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,839,858...36,868,986
Ensembl chr 1:38,189,273...38,218,391
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 1:44,928,396...44,987,387
Ensembl chr 1:46,286,565...46,343,891
JBrowse link
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:36,060,594...36,312,781
Ensembl chr 1:37,415,254...37,651,705
JBrowse link
G GUCA2A guanylate cyclase activator 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,462,047...41,464,122
Ensembl chr 1:42,841,930...42,844,005
JBrowse link
G GUCA2B guanylate cyclase activator 2B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,452,722...41,455,192
Ensembl chr 1:42,832,196...42,835,425
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 1:44,306,327...44,315,131
Ensembl chr 1:45,670,302...45,678,916
JBrowse link
G HEYL hes related family bHLH transcription factor with YRPW motif like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,913,549...38,929,798
Ensembl chr 1:40,240,118...40,256,933
JBrowse link
G HIVEP3 HIVEP zinc finger 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,805,355...41,335,290
Ensembl chr 1:42,120,741...42,203,313
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 1:33,146,630...33,150,947 JBrowse link
G HPCA hippocalcin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524
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 1:38,969,006...38,982,080
Ensembl chr 1:40,295,463...40,308,469
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 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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 1:42,752,555...42,755,643 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 1:37,135,442...37,220,721
Ensembl chr 1:38,485,163...38,567,704
JBrowse link
G IPO13 importin 13 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,248,677...43,269,815
Ensembl chr 1:44,619,894...44,641,197
JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,993,669...45,052,411
Ensembl chr 1:46,351,496...46,408,224
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 1:40,076,552...40,133,913
Ensembl chr 1:41,396,111...41,452,780
JBrowse link
G KDM4A lysine demethylase 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
JBrowse link
G KIAA0319L KIAA0319 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,701,571...34,825,628
Ensembl chr 1:35,879,029...36,002,516
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 1:44,042,565...44,070,922
Ensembl chr 1:45,408,734...45,436,844
JBrowse link
G KLF17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,419,910...43,435,499
Ensembl chr 1:44,791,190...44,802,965
JBrowse link
G LOC100977537 argonaute RISC component 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,072,045...35,122,418
Ensembl chr 1:36,249,038...36,299,259
JBrowse link
G LOC100984543 bone morphogenetic protein 8A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,776,557...38,815,210 JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,660,923...35,665,440
Ensembl chr 1:36,829,540...36,829,911
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 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
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 1:37,068,591...37,075,844 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 1:35,421,781...35,446,939
Ensembl chr 1:36,596,960...36,620,540
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 1:45,105,098...45,341,903
Ensembl chr 1:46,461,456...46,696,053
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 1:36,761,402...36,783,746
Ensembl chr 1:38,111,937...38,133,360
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 1:42,685,324...42,691,243
Ensembl chr 1:44,063,479...44,068,835
JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492
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 1:35,720,722...35,729,397
Ensembl chr 1:36,886,843...36,895,556
JBrowse link
G MTF1 metal regulatory transcription factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,088,744...37,134,318
Ensembl chr 1:38,438,294...38,482,142
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 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
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 1:38,135,375...38,145,640 JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,184,883...39,191,413
Ensembl chr 1:40,510,820...40,517,821
JBrowse link
G NASP nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,885,433...44,920,159
Ensembl chr 1:46,242,841...46,278,737
JBrowse link
G NCDN neurochondrin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,825,694...34,834,729
Ensembl chr 1:36,002,890...36,011,889
JBrowse link
G NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:38,304,225...38,312,608
Ensembl chr 1:39,651,659...39,659,266
JBrowse link
G NFYC nuclear transcription factor Y subunit gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,984,716...40,064,464
Ensembl chr 1:41,304,194...41,383,615
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 1:38,943,479...38,962,804
Ensembl chr 1:40,275,870...40,289,221
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 1:35,681,787...35,716,220
Ensembl chr 1:36,849,204...36,881,539
JBrowse link
G OXCT2 3-oxoacid CoA-transferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,060,137...39,062,481 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 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336
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 1:38,846,296...38,862,371
Ensembl chr 1:40,172,657...40,188,308
JBrowse link
G PHC2 polyhomeotic homolog 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,609,560...32,717,143
Ensembl chr 1:33,794,950...33,846,913
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 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920
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 1:44,104,564...44,110,162
Ensembl chr 1:45,470,016...45,476,021
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G POU3F1 POU class 3 homeobox 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,317,800...37,320,004 JBrowse link
G PPCS phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,756,403...41,773,430
Ensembl chr 1:43,136,720...43,140,620
JBrowse link
G PPIE peptidylprolyl isomerase E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,029,412...39,054,500
Ensembl chr 1:40,355,598...40,380,472
JBrowse link
G PPIH peptidylprolyl isomerase H ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,958,260...41,981,598
Ensembl chr 1:43,336,039...43,353,898
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 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
JBrowse link
G PSMB2 proteasome 20S subunit beta 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,869,524...34,911,852
Ensembl chr 1:36,046,963...36,090,294
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055
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 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
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 1:38,157,761...38,214,267
Ensembl chr 1:39,503,171...39,543,378
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 1:41,680,447...41,722,087
Ensembl chr 1:43,061,769...43,095,443
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 1:39,886,961...39,958,519
Ensembl chr 1:41,239,798...41,278,282
JBrowse link
G RLF RLF zinc finger ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,448,869...39,528,061
Ensembl chr 1:40,773,638...40,852,218
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 1:32,228,220...32,256,745
Ensembl chr 1:33,414,611...33,441,986
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 1:43,707,764...43,954,197
Ensembl chr 1:45,083,499...45,319,721
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 1:44,078,633...44,081,891
Ensembl chr 1:45,444,879...45,448,166
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 1:38,110,578...38,132,179
Ensembl chr 1:39,456,768...39,478,244
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 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
JBrowse link
G S100PBP S100P binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 1:32,108,070...32,149,433
Ensembl chr 1:33,295,373...33,335,495
JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:40,323,101...40,540,236
Ensembl chr 1:41,639,127...41,776,261
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 1:37,230,553...37,264,167
Ensembl chr 1:38,575,122...38,612,009
JBrowse link
G SFPQ splicing factor proline and glutamine rich ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,444,105...34,461,012
Ensembl chr 1:35,632,917...35,641,551
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 1:35,573,553...35,589,034
Ensembl chr 1:36,743,753...36,752,693
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC6A9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:43,298,326...43,333,345
Ensembl chr 1:44,664,839...44,704,882
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 1:40,311,448...40,321,628
Ensembl chr 1:41,627,482...41,637,570
JBrowse link
G SMAP2 small ArfGAP2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,660,134...39,709,902
Ensembl chr 1:40,983,822...41,031,845
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 1:34,121,669...34,126,465
Ensembl chr 1:35,303,890...35,304,168
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 1:36,807,488...36,827,347
Ensembl chr 1:38,155,375...38,176,803
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 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
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 1:35,607,231...35,653,443
Ensembl chr 1:36,775,581...36,821,654
JBrowse link
G SVBP small vasohibin binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
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 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
JBrowse link
G TEKT2 tektin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,350,168...35,354,378
Ensembl chr 1:36,524,686...36,528,586
JBrowse link
G TESK2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,646,716...44,794,419
Ensembl chr 1:46,005,185...46,118,811
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 1:34,838,962...34,863,268
Ensembl chr 1:36,018,681...36,040,059
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 1:35,492,918...35,572,896
Ensembl chr 1:36,719,770...36,741,355
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 1:42,602,333...42,624,471
Ensembl chr 1:43,979,838...44,002,167
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 1:39,534,907...39,538,819
Ensembl chr 1:40,858,869...40,862,642
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 1:42,571,400...42,575,429
Ensembl chr 1:43,951,331...43,951,990
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 1:34,246,470...34,250,771
Ensembl chr 1:35,427,479...35,431,307
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 1:43,955,734...43,977,107
Ensembl chr 1:45,305,359...45,343,109
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 1:32,185,082...32,191,891
Ensembl chr 1:33,371,471...33,378,391
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 1:44,987,380...44,993,900
Ensembl chr 1:46,345,285...46,351,530
JBrowse link
G TOE1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,642,812...44,646,808
Ensembl chr 1:46,000,713...46,005,279
JBrowse link
G TRAPPC3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:35,402,394...35,415,312
Ensembl chr 1:36,577,114...36,590,226
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 1:32,429,824...32,467,185
Ensembl chr 1:33,614,555...33,650,859
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 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:44,315,912...44,319,356
Ensembl chr 1:45,679,744...45,683,185
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 1:37,286,274...37,297,368
Ensembl chr 1:38,633,935...38,645,068
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C OMIM
ClinVar
PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 More... NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558
JBrowse link
G YBX1 Y-box binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,982,365...42,002,430
Ensembl chr 1:43,360,052...43,380,313
JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:37,077,653...37,082,929 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 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
JBrowse link
G ZFP69 ZFP69 zinc finger protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,767,402...39,786,090
Ensembl chr 1:41,089,353...41,108,690
JBrowse link
G ZFP69B ZFP69 zinc finger protein B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,736,604...39,750,288
Ensembl chr 1:41,059,175...41,072,659
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 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
JBrowse link
G ZMYM1 zinc finger MYM-type containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,345,439...34,383,605
Ensembl chr 1:35,536,527...35,563,423
JBrowse link
G ZMYM4 zinc finger MYM-type containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,535,627...34,690,333
Ensembl chr 1:35,771,826...35,868,117
JBrowse link
G ZMYM6 zinc finger MYM-type containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:34,251,912...34,296,627
Ensembl chr 1:35,432,919...35,478,126
JBrowse link
G ZMYND12 zinc finger MYND-type containing 12 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:41,725,736...41,756,324
Ensembl chr 1:43,110,890...43,136,487
JBrowse link
G ZNF362 zinc finger protein 362 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,412,726...32,586,712
Ensembl chr 1:33,741,628...33,770,353
JBrowse link
G ZNF684 zinc finger protein 684 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:39,824,037...39,841,025
Ensembl chr 1:41,145,020...41,162,094
JBrowse link
G ZNF691 zinc finger protein 691 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:42,144,932...42,150,839
Ensembl chr 1:43,526,359...43,527,485
JBrowse link
G ZSCAN20 zinc finger and SCAN domain containing 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C ClinVar PMID:28492532 NCBI chr 1:32,758,663...32,787,745
Ensembl chr 1:33,943,212...33,967,134
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 1:44,320,200...44,507,023
Ensembl chr 1:45,686,060...45,867,309
JBrowse link
Charcot-Marie-Tooth disease dominant intermediate D term browser