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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Charcot-Marie-Tooth disease type 2
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Accession:DOID:0050539 term browser browse the term
Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, type II;   Charcot-Marie-Tooth, type 2;   HMSN II;   HMSN type II;   hereditary motor and sensory neuropathy Guadalajara neuronal type;   hereditary motor and sensory neuropathy Okinawa type;   hereditary motor and sensory neuropathy type 2;   hereditary motor and sensory neuropathy type II
 xref: GARD:12431;   ICD9CM:356.0;   ORDO:64746


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:6492094 PMID:7842019 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		JBrowse link
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,736,639...94,748,093
Ensembl chr 4:94,736,646...94,748,098 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,825,319...71,836,812 JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,350,872...71,356,299
Ensembl chr 6:71,350,033...71,356,662 		JBrowse link
G APITD1 apoptosis-inducing, TAF9-like domain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,700,802...70,711,719
Ensembl chr 6:70,701,694...70,711,717 		JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:28492532 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,449,268...95,453,663
Ensembl chr 4:95,450,150...95,453,256 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,297,532...94,484,994
Ensembl chr 4:94,297,616...94,484,990 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20170900 PMID:25741868 PMID:28389643 PMID:32294113 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,426,545...95,449,193
Ensembl chr 4:95,427,943...95,449,188 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,808,968 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:1674639 PMID:5964029 PMID:9536098 PMID:11479539 PMID:11916958 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G C4H1orf43 chromosome 4 C1orf43 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,520,003...95,530,856
Ensembl chr 4:95,519,992...95,530,846 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,733,967...93,753,340
Ensembl chr 4:93,733,918...93,753,340 		JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,531,141...95,534,752
Ensembl chr 4:95,530,994...95,535,407 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,815,769...94,819,583
Ensembl chr 4:94,815,771...94,819,597 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,558,220...94,570,084
Ensembl chr 4:94,560,579...94,570,082 		JBrowse link
G CLSTN1 calsyntenin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,086,245...70,165,240
Ensembl chr 6:70,086,247...70,165,174 		JBrowse link
G COG4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,492,876...13,524,442
Ensembl chr 6:13,490,116...13,524,452 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
G CORT cortistatin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,716,630...70,717,980
Ensembl chr 6:70,716,386...70,718,032 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,184,935...70,241,560
Ensembl chr 6:70,184,936...70,241,477 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223 		JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,748,430...94,768,322
Ensembl chr 4:94,748,429...94,768,452 		JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,768,533...94,781,482
Ensembl chr 4:94,768,500...94,780,214 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604 		JBrowse link
G DDX19B DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,328,241...13,358,139
Ensembl chr 6:13,325,351...13,359,459 		JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,725,403...70,736,264
Ensembl chr 6:70,724,590...70,736,236 		JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,583,818...71,640,945
Ensembl chr 6:71,583,818...71,640,940 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:16199547 PMID:22522442 PMID:25274842 PMID:25741868 PMID:28492532 More... NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,786,806...71,814,946
Ensembl chr 6:71,786,800...71,814,679 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,666,457...94,673,442
Ensembl chr 4:94,666,460...94,674,071 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,709,941...94,719,350
Ensembl chr 4:94,710,647...94,719,248 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,730,790...94,735,578
Ensembl chr 4:94,730,792...94,735,559 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32860008 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,575,752...94,581,587
Ensembl chr 4:94,575,793...94,581,585 		JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,258,988...71,282,802
Ensembl chr 6:71,258,999...71,282,433 		JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,740,647...71,747,265
Ensembl chr 6:71,740,677...71,748,923 		JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,747,210...71,754,519
Ensembl chr 6:71,743,261...71,774,223 		JBrowse link
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,755,335...71,774,264
Ensembl chr 6:71,768,498...71,774,243 		JBrowse link
G FCSK fucose kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,471,771...13,492,581
Ensembl chr 6:13,471,833...13,506,419 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,807,280...94,813,512
Ensembl chr 4:94,807,287...94,813,575 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:8872480 PMID:9536098 PMID:10732809 PMID:12690580 PMID:16014653 More... NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,758,939...93,763,517
Ensembl chr 4:93,758,809...93,763,912 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,161,887...94,248,785 JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,486,365...93,492,837
Ensembl chr 4:93,486,380...93,494,829 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298 		JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,462,306...93,468,394
Ensembl chr 4:93,462,308...93,467,802 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,545,919...94,560,105
Ensembl chr 4:94,547,416...94,560,106 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,341,081...93,351,809
Ensembl chr 4:93,340,882...93,351,802 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:32323160 NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018 		JBrowse link
G IL34 interleukin 34 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,588,748...13,679,864
Ensembl chr 6:13,588,787...13,659,895 		JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,495,999...93,556,915
Ensembl chr 4:93,513,187...93,559,001 		JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,366,188...93,372,407
Ensembl chr 4:93,366,241...93,372,454 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,275 		JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,098,211...94,116,662
Ensembl chr 4:94,098,252...94,116,658 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,976,011...71,981,674
Ensembl chr 6:71,976,019...71,981,673 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18334619 PMID:18726616 More... NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:20386726 PMID:25008398 PMID:25741868 PMID:29892902 NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,643,300...94,646,436
Ensembl chr 4:94,642,942...94,646,436 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,972,112...93,975,561
Ensembl chr 4:93,971,819...93,976,304 		JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,805,409...94,807,175
Ensembl chr 4:94,806,595...94,806,780 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:262236 PMID:1737707 PMID:1839274 PMID:1849984 PMID:2007407 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC102165849 uncharacterized protein C1orf167 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,849,204...71,866,887 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,261,447...70,271,710
Ensembl chr 6:70,259,151...70,271,955 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,682...71,779,183 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874 		JBrowse link
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 More... NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,581,563...93,616,980
Ensembl chr 4:93,581,598...93,616,983 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,358,140...93,366,169
Ensembl chr 4:93,358,143...93,366,082 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:72,064,634...72,074,981
Ensembl chr 6:72,064,662...72,076,275 		JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694 		JBrowse link
G MIR9-1 microRNA mir-9-1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,660,422...93,660,510 JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,352,997...93,357,805
Ensembl chr 4:93,353,111...93,357,796 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,606,576...94,611,439
Ensembl chr 4:94,606,562...94,611,865 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,493,234...93,495,912
Ensembl chr 4:93,490,537...93,496,396 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,802,721...93,807,624
Ensembl chr 4:93,801,863...93,807,597 		JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,837,365...94,847,652
Ensembl chr 4:94,832,270...94,847,648 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,675,751...70,692,697
Ensembl chr 6:70,675,815...70,692,679 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar PMID:28492532 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,810,863...93,836,786
Ensembl chr 4:93,810,507...93,837,652 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar NCBI chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,313,316...70,326,407
Ensembl chr 6:70,313,309...70,326,455 		JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,694,259...93,708,055
Ensembl chr 4:93,694,266...93,707,865 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,489,202...94,499,993
Ensembl chr 4:94,489,207...94,499,256 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224 		JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,570,563...94,575,265
Ensembl chr 4:94,570,563...94,575,265 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SF3B3 splicing factor 3b subunit 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,524,519...13,578,681
Ensembl chr 6:13,524,717...13,578,680 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099 		JBrowse link
G SLC25A33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:69,934,810...69,969,091
Ensembl chr 6:69,934,834...69,969,084 		JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,837,004...93,857,154
Ensembl chr 4:93,837,009...93,857,158 		JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,663,057...94,665,486
Ensembl chr 4:94,663,059...94,665,467 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:25741868 PMID:30192042 NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,770,329...93,801,808
Ensembl chr 4:93,770,378...93,800,650 		JBrowse link
G SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:69,720,538...69,789,566
Ensembl chr 6:69,720,806...69,791,119 		JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,246,876...71,253,508 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962 		JBrowse link
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:13,402,336...13,456,495
Ensembl chr 6:13,402,345...13,419,378 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704 		JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502 		JBrowse link
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type		 ClinVar PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,579...158,326,885 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,612,702...94,623,905
Ensembl chr 4:94,611,593...94,623,902 		JBrowse link
G TMEM201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:69,973,378...69,998,548
Ensembl chr 6:69,973,397...69,998,544 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,632,073...94,642,756
Ensembl chr 4:94,632,077...94,642,705 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,725,672...93,735,029
Ensembl chr 4:93,725,531...93,728,761 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,500,900...93,512,039
Ensembl chr 4:93,500,564...93,510,815 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425 		JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530 		JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:70,345,789...70,462,434
Ensembl chr 6:70,345,813...70,462,434 		JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:71,419,559...71,431,275
Ensembl chr 6:71,419,602...71,433,210 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058 		JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 ClinVar PMID:28492532 PMID:29845577 NCBI chr 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657 		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 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865 		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 chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792 		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 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		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 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088 		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 chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		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:25741868 PMID:27040688 PMID:28492532 PMID:28749476 PMID:29411640 More... NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder OMIM
ClinVar		 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 More... NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704 		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 4:91,227,362...91,260,125
Ensembl chr 4:91,227,363...91,260,097 		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 chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		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:16606917 PMID:17576681 PMID:18566107 More... NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		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 chr12:5,450,913...5,479,550
Ensembl chr12:5,439,361...5,479,546 		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 4:61,971,103...61,989,392
Ensembl chr 4:61,971,426...61,990,151 		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:257 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		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 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544 		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 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697 		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 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		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 4:62,046,568...62,084,679
Ensembl chr 4:62,014,059...62,098,400 		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 chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792 		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 chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		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 chr 2:8,361,579...8,408,920
Ensembl chr 2:8,361,774...8,408,917 		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
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G ANKRD9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G APOPT1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G ASPG asparaginase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G ATP5MJ ATP synthase membrane subunit j ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G BTBD6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G CDCA4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G CINP cyclin dependent kinase 2 interacting protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G CKB creatine kinase B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
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
G CUnH14orf180 chromosome Un C14orf180 homolog ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
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:9781046 PMID:10862709 PMID:12730604 PMID:15826937 More...
G EIF5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G EXOC3L4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G GPR132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
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
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G JAG2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G KIF26A kinesin family member 26A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G NUDT14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G PLD4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G PPP1R13B protein phosphatase 1 regulatory subunit 13B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G RD3L RD3 like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G SIVA1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TDRD9 tudor domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TMEM179 transmembrane protein 179 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TNFAIP2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G WDR20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
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
G ZFYVE21 zinc finger FYVE-type containing 21 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
G ZNF839 zinc finger protein 839 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O ClinVar PMID:28492532
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 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q OMIM
ClinVar		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		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 OMIM
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		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 chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal 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:25565308 PMID:25741868 PMID:26991897 More... NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045 		JBrowse link
Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, 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 chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049 		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 chr 5:22,799,286...22,814,358
Ensembl chr 5:22,799,287...22,814,362 		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 chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829 		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 chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		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 chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		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 chr 5:22,790,220...22,799,131
Ensembl chr 5:22,791,437...22,799,126 		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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		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 chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628 		JBrowse link
Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGAT2 diacylglycerol O-acyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 ClinVar NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,128...10,068,437 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1 OMIM
ClinVar		 PMID:9409358 PMID:11389829 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		JBrowse link
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A ClinVar PMID:23141293 PMID:25326637 PMID:25741868 PMID:25860818 PMID:26141459 More... NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A OMIM
ClinVar		 PMID:8406488 PMID:9409358 PMID:10732809 PMID:15064763 PMID:15549395 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
Charcot-Marie-Tooth disease type 2A2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency OMIM
ClinVar		 PMID:8406488 PMID:9409358 PMID:15064763 PMID:15549395 PMID:16043786 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B ClinVar PMID:28492532 NCBI chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Peripheral sensory neuropathy, autosomal dominant (PSN) OMIM
ClinVar		 PMID:9536098 PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 More... NCBI chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694 		JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 ClinVar PMID:25488817 PMID:25527630 PMID:25741868 PMID:28492532 PMID:30039206 More... NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar		 PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		JBrowse link
Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D OMIM
ClinVar		 PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 More... NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD OMIM
ClinVar		 PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547 		JBrowse link
Charcot-Marie-Tooth disease type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDCA2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:9,517,763...9,571,303
Ensembl chr14:9,518,201...9,566,588 		JBrowse link
G DOCK5 dedicator of cytokinesis 5 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:9,197,280...9,438,715
Ensembl chr14:9,197,293...9,436,249 		JBrowse link
G EBF2 EBF transcription factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:9,816,992...10,027,574
Ensembl chr14:9,817,002...10,025,164 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035 		JBrowse link
G KCTD9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:19158810 PMID:20039262 PMID:28492532 NCBI chr14:9,453,086...9,517,686
Ensembl chr14:9,455,071...9,517,691 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E OMIM
ClinVar		 PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737 PMID:9371959 PMID:9712007 PMID:20301384 PMID:21252112 More... NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925 		JBrowse link
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 3:111,836,038...111,852,468
Ensembl chr 3:111,834,181...111,852,744 		JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508 		JBrowse link
Charcot-Marie-Tooth disease type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I OMIM
ClinVar		 PMID:3467805 PMID:7505151 PMID:7506095 PMID:8664899 PMID:8816708 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities OMIM
ClinVar		 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 8:75,770,344...75,939,812
Ensembl chr 8:75,771,048...75,890,357 		JBrowse link
Charcot-Marie-Tooth disease type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y OMIM
ClinVar		 PMID:15034582 PMID:19237541 PMID:21145000 PMID:21984748 PMID:22270372 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w OMIM
ClinVar		 PMID:22930593 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 More... NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
Charcot-Marie-Tooth Disease, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA ClinVar PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
Hereditary Motor and Sensory Neuropathy, Okinawa Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22883144 PMID:23479643 PMID:23553329 More... NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,579...158,326,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      musculoskeletal system disease 7669
        neuromuscular disease 2980
          Charcot-Marie-Tooth disease 647
            Charcot-Marie-Tooth disease type 2 254
              Charcot-Marie-Tooth Disease Axonal Type 2FF 1
              Charcot-Marie-Tooth Disease Axonal Type 2HH 1
              Charcot-Marie-Tooth Disease Axonal Type 2II 1
              Charcot-Marie-Tooth Disease, Type 2A + 5
              Charcot-Marie-Tooth disease axonal type 2C 3
              Charcot-Marie-Tooth disease axonal type 2CC 1
              Charcot-Marie-Tooth disease axonal type 2F 1
              Charcot-Marie-Tooth disease axonal type 2H 0
              Charcot-Marie-Tooth disease axonal type 2K 7
              Charcot-Marie-Tooth disease axonal type 2L 1
              Charcot-Marie-Tooth disease axonal type 2N 2
              Charcot-Marie-Tooth disease axonal type 2O 48
              Charcot-Marie-Tooth disease axonal type 2P 1
              Charcot-Marie-Tooth disease axonal type 2Q 1
              Charcot-Marie-Tooth disease axonal type 2S 1
              Charcot-Marie-Tooth disease axonal type 2T 2
              Charcot-Marie-Tooth disease axonal type 2U 7
              Charcot-Marie-Tooth disease axonal type 2V 0
              Charcot-Marie-Tooth disease axonal type 2X 1
              Charcot-Marie-Tooth disease axonal type 2Z 1
              Charcot-Marie-Tooth disease type 2B 3
              Charcot-Marie-Tooth disease type 2B1 1
              Charcot-Marie-Tooth disease type 2B2 2
              Charcot-Marie-Tooth disease type 2D 1
              Charcot-Marie-Tooth disease type 2DD 1
              Charcot-Marie-Tooth disease type 2E 7
              Charcot-Marie-Tooth disease type 2EE 5
              Charcot-Marie-Tooth disease type 2I 2
              Charcot-Marie-Tooth disease type 2J 1
              Charcot-Marie-Tooth disease type 2R 1
              Charcot-Marie-Tooth disease type 2Y 1
              Charcot-Marie-Tooth disease, axonal type 2W 1
              Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
              autosomal dominant distal hereditary motor neuronopathy 2 3
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          neurodegenerative disease 4656
            Nervous System Heredodegenerative Disorders 3192
              motor peripheral neuropathy 1185
                Charcot-Marie-Tooth disease 647
                  Charcot-Marie-Tooth disease type 2 254
                    Charcot-Marie-Tooth Disease Axonal Type 2FF 1
                    Charcot-Marie-Tooth Disease Axonal Type 2HH 1
                    Charcot-Marie-Tooth Disease Axonal Type 2II 1
                    Charcot-Marie-Tooth Disease, Type 2A + 5
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2H 0
                    Charcot-Marie-Tooth disease axonal type 2K 7
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 2
                    Charcot-Marie-Tooth disease axonal type 2O 48
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2S 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 7
                    Charcot-Marie-Tooth disease axonal type 2V 0
                    Charcot-Marie-Tooth disease axonal type 2X 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2B1 1
                    Charcot-Marie-Tooth disease type 2B2 2
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 7
                    Charcot-Marie-Tooth disease type 2EE 5
                    Charcot-Marie-Tooth disease type 2I 2
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2R 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    Hereditary Motor and Sensory Neuropathy, Okinawa Type 1
                    autosomal dominant distal hereditary motor neuronopathy 2 3
paths to the root