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G |
AARS1 |
alanyl-tRNA synthetase 1 |
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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 PMID:20045102 PMID:21208200 PMID:21494555 PMID:22009580 PMID:22206013 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25025039 PMID:25326637 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27164712 PMID:27549087 PMID:27993330 PMID:28166811 PMID:28492532 PMID:28493438 PMID:28902413 PMID:29653220 PMID:30124830 PMID:30214071 PMID:30373780 PMID:31130284 PMID:31791873 PMID:31827005 PMID:32314272 PMID:32376792 PMID:32403337 PMID:32571458 PMID:33294374 PMID:33753480 PMID:33909043 PMID:34446925 PMID:34645488 PMID:34650302 More...
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NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383
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G |
ADAM15 |
ADAM metallopeptidase domain 15 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,736,639...94,748,093
Ensembl chr 4:94,736,646...94,748,098
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G |
ADAR |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304
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G |
AGTRAP |
angiotensin II receptor associated protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,825,319...71,836,812
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G |
ANGPTL7 |
angiopoietin like 7 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,350,872...71,356,299
Ensembl chr 6:71,350,033...71,356,662
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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
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G |
AQP1 |
aquaporin 1 (Colton blood group) |
|
ISO |
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type |
ClinVar |
PMID:28492532 |
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NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746
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G |
AQP10 |
aquaporin 10 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,449,268...95,453,663
Ensembl chr 4:95,450,150...95,453,256
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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 |
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NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420
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G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,297,532...94,484,994
Ensembl chr 4:94,297,616...94,484,990
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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 |
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NCBI chr X:61,972,544...62,110,058
Ensembl chr X:61,972,991...62,110,048
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G |
ATP8B2 |
ATPase phospholipid transporting 8B2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,426,545...95,449,193
Ensembl chr 4:95,427,943...95,449,188
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G |
BCAN |
brevican |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831
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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 |
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NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,808,968
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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 PMID:12030893 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15181077 PMID:15732094 PMID:16199547 PMID:16427281 PMID:16574104 PMID:16735770 PMID:17387721 PMID:17486577 PMID:17535271 PMID:17576681 PMID:18057387 PMID:18585921 PMID:18690553 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:19762912 PMID:19763152 PMID:20307669 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22406018 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 PMID:23564749 PMID:23659685 PMID:23963299 PMID:23989774 PMID:24024128 PMID:24345054 PMID:24451228 PMID:24604904 PMID:24778225 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26282322 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27452399 PMID:27549087 PMID:27564575 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:27868354 PMID:28166811 PMID:28362824 PMID:28492532 PMID:28832565 PMID:28916377 PMID:29336362 PMID:29478747 PMID:29482223 PMID:29934652 PMID:30150100 PMID:30903322 PMID:30919572 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32041611 PMID:32320108 PMID:32397312 PMID:32792356 PMID:35351089 PMID:35922214 More...
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NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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G |
C4H1orf43 |
chromosome 4 C1orf43 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,520,003...95,530,856
Ensembl chr 4:95,519,992...95,530,846
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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
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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 |
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NCBI chr 4:93,733,967...93,753,340
Ensembl chr 4:93,733,918...93,753,340
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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 |
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NCBI chr 4:95,531,141...95,534,752
Ensembl chr 4:95,530,994...95,535,407
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
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NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:32376792 More...
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NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991
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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
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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
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
|
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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
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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
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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
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G |
EMD |
emerin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 PMID:32860008 |
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NCBI chr X:124,883,047...124,885,429
Ensembl chr X:124,883,049...124,885,432
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16199547 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17545306 PMID:17576681 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:21737751 PMID:23279345 PMID:24078732 PMID:24088041 PMID:24354524 PMID:24604904 PMID:24627108 PMID:24669931 PMID:25058219 PMID:25168514 PMID:25356970 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26000875 PMID:26138142 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27790088 PMID:27862672 PMID:28160950 PMID:28166811 PMID:28492532 PMID:28594869 PMID:28708278 PMID:29520015 PMID:29648643 PMID:29858556 PMID:30643024 PMID:31591847 PMID:31628756 PMID:31785789 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32028661 PMID:32181591 PMID:32376792 PMID:32403337 PMID:33067402 PMID:35304488 More...
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NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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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
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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
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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 |
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NCBI chr 4:93,758,939...93,763,517
Ensembl chr 4:93,758,809...93,763,912
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G |
GON4L |
gon-4 like |
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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
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G |
GPATCH4 |
G-patch domain containing 4 |
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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
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G |
H6PD |
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298
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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
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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
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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
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|
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
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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
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|
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 |
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NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018
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|
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
|
|
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
|
|
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
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|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 PMID:28492532 PMID:28554332 PMID:32935419 PMID:33880452 More...
|
|
NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826
|
|
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 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25025039 PMID:25640679 PMID:25741868 PMID:26257172 PMID:26392352 PMID:28166811 PMID:28492532 PMID:28637693 PMID:29590070 PMID:30126838 PMID:30487145 PMID:31130284 PMID:31372974 PMID:32376792 PMID:32419263 PMID:33112832 PMID:33362715 PMID:34169998 PMID:34750850 More...
|
|
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 PMID:2270059 PMID:2280636 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:4684700 PMID:4740717 PMID:8619549 PMID:8621584 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11138304 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11792811 PMID:11799477 PMID:11897440 PMID:11901143 PMID:11973618 PMID:12015247 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12486434 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12729796 PMID:12768443 PMID:12783988 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14569138 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15148145 PMID:15184648 PMID:15219508 PMID:15286156 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15476822 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15832002 PMID:15843404 PMID:15866440 PMID:15919811 PMID:15961312 PMID:15965218 PMID:15972724 PMID:15982412 PMID:15998779 PMID:16008174 PMID:16061563 PMID:16084085 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16186497 PMID:16199547 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16478798 PMID:16537768 PMID:16584978 PMID:16585054 PMID:16630578 PMID:16636128 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16825282 PMID:16891232 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17107595 PMID:17136397 PMID:17150192 PMID:17250669 PMID:17250699 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17556535 PMID:17576681 PMID:17599607 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17935239 PMID:17967828 PMID:17987279 PMID:18031308 PMID:18031519 PMID:18035086 PMID:18035816 PMID:18041775 PMID:18182166 PMID:18337098 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18480576 PMID:18502446 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18714801 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18808171 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19095983 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19258295 PMID:19283854 PMID:19318026 PMID:19328042 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19768759 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20092787 PMID:20127487 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20472316 PMID:20497714 PMID:20498703 PMID:20576434 PMID:20580717 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20709679 PMID:20837309 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21085127 PMID:21151901 PMID:21173262 PMID:21179469 PMID:21251803 PMID:21315846 PMID:21346069 PMID:21400569 PMID:21462202 PMID:21479595 PMID:21483645 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:21738662 PMID:21818408 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21922471 PMID:21945321 PMID:21970986 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22090424 PMID:22103509 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22337857 PMID:22355414 PMID:22413764 PMID:22431096 PMID:22464770 PMID:22491857 PMID:22526018 PMID:22549407 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22761994 PMID:22806367 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23029315 PMID:23062543 PMID:23077635 PMID:23141186 PMID:23142632 PMID:23150259 PMID:23183350 PMID:23217256 PMID:23243001 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23360689 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23631840 PMID:23644458 PMID:23666920 PMID:23701190 PMID:23702046 PMID:23703017 PMID:23757202 PMID:23783098 PMID:23785128 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23912926 PMID:23969228 PMID:23977161 PMID:23990565 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24034385 PMID:24037902 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24169522 PMID:24237251 PMID:24305605 PMID:24349489 PMID:24375749 PMID:24386194 PMID:24503780 PMID:24508248 PMID:24623722 PMID:24639906 PMID:24642510 PMID:24656463 PMID:24687084 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24806962 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25001855 PMID:25025039 PMID:25049529 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25256213 PMID:25274841 PMID:25286833 PMID:25319090 PMID:25324471 PMID:25327215 PMID:25343322 PMID:25351510 PMID:25367549 PMID:25371241 PMID:25448463 PMID:25469153 PMID:25481314 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25572245 PMID:25617006 PMID:25637381 PMID:25640679 PMID:25656816 PMID:25741868 PMID:25741916 PMID:25793944 PMID:25819867 PMID:25823658 PMID:25832542 PMID:25873806 PMID:25885670 PMID:25886484 PMID:25946677 PMID:25948554 PMID:25982065 PMID:25987458 PMID:25988045 PMID:25996830 PMID:26027246 PMID:26034236 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26199943 PMID:26220970 PMID:26323789 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26392352 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26567375 PMID:26573435 PMID:26575312 PMID:26602028 PMID:26620845 PMID:26659599 PMID:26662654 PMID:26670336 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27034135 PMID:27034136 PMID:27066507 PMID:27100822 PMID:27111165 PMID:27153395 PMID:27182706 PMID:27199538 PMID:27220833 PMID:27234031 PMID:27235420 PMID:27265359 PMID:27332903 PMID:27363342 PMID:27373676 PMID:27374873 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27461183 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27534416 PMID:27585670 PMID:27595935 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27673727 PMID:27707468 PMID:27708273 PMID:27717888 PMID:27723096 PMID:27813223 PMID:27841901 PMID:27841971 PMID:27845687 PMID:27854218 PMID:27876398 PMID:27884249 PMID:27886618 PMID:27896052 PMID:27896284 PMID:27919367 PMID:27938454 PMID:28069705 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28118183 PMID:28125586 PMID:28152038 PMID:28166811 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28333919 PMID:28341588 PMID:28403181 PMID:28416588 PMID:28436080 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28600387 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28759816 PMID:28785654 PMID:28790152 PMID:28790155 PMID:28798025 PMID:28807990 PMID:28855170 PMID:28874324 PMID:28878338 PMID:28878402 PMID:28912206 PMID:28987496 PMID:29047356 PMID:29057633 PMID:29078011 PMID:29095976 PMID:29104234 PMID:29121657 PMID:29149195 PMID:29211919 PMID:29237675 PMID:29237690 PMID:29247119 PMID:29250285 PMID:29253866 PMID:29255176 PMID:29267953 PMID:29367541 PMID:29382405 PMID:29386531 PMID:29432544 PMID:29438482 PMID:29497013 PMID:29511324 PMID:29540472 PMID:29557732 PMID:29620724 PMID:29676528 PMID:29693488 PMID:29753763 PMID:29770364 PMID:29773157 PMID:29791652 PMID:29845577 PMID:29892087 PMID:29893365 PMID:29895224 PMID:29907918 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30019023 PMID:30055862 PMID:30078822 PMID:30083363 PMID:30107846 PMID:30122538 PMID:30123186 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30178466 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30453078 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30572990 PMID:30696354 PMID:30765282 PMID:30838351 PMID:30847666 PMID:30871747 PMID:30901896 PMID:30911407 PMID:30919684 PMID:30954027 PMID:31006814 PMID:31019283 PMID:31038196 PMID:31042466 PMID:31069529 PMID:31194872 PMID:31263448 PMID:31264968 PMID:31270292 PMID:31293201 PMID:31296869 PMID:31303467 PMID:31317183 PMID:31322791 PMID:31378009 PMID:31383942 PMID:31410651 PMID:31428229 PMID:31434876 PMID:31447099 PMID:31453089 PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31791368 PMID:31829210 PMID:31836692 PMID:31847799 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32155092 PMID:32160020 PMID:32193531 PMID:32297714 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32456328 PMID:32458740 PMID:32475984 PMID:32528171 PMID:32548202 PMID:32571898 PMID:32616434 PMID:32666643 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32789579 PMID:32789750 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32846814 PMID:32880476 PMID:32943904 PMID:32954377 PMID:33038109 PMID:33250842 PMID:33258288 PMID:33293369 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33552729 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33916827 PMID:33940562 PMID:33963534 PMID:34008892 PMID:34011823 PMID:34135346 PMID:34213952 PMID:34240052 PMID:34340952 PMID:34360639 PMID:34363016 PMID:34495297 PMID:34621001 PMID:34638534 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34773379 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35284542 PMID:35291351 PMID:35434999 PMID:35449878 PMID:35470684 PMID:35526016 PMID:35535697 PMID:35581137 PMID:35653365 PMID:35772917 PMID:36136372 PMID:36178741 PMID:36267857 PMID:36293084 PMID:36397776 PMID:36548481 PMID:36646731 PMID:37178278 PMID:37246508 PMID:37589201 PMID:37679847 More...
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NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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G |
LOC102165849 |
uncharacterized protein C1orf167 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,849,204...71,866,887
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G |
LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
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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 |
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NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825
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G |
LZIC |
leucine zipper and CTNNBIP1 domain containing |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,261,447...70,271,710
Ensembl chr 6:70,259,151...70,271,955
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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,682...71,779,183
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G |
MASP2 |
MBL associated serine protease 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
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G |
MED25 |
mediator complex subunit 25 |
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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 PMID:25741868 PMID:26257172 PMID:28170084 PMID:28492532 PMID:30039206 PMID:30800049 PMID:31602195 PMID:32324310 PMID:32371413 PMID:32376792 More...
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NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821
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G |
MEF2D |
myocyte enhancer factor 2D |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,581,563...93,616,980
Ensembl chr 4:93,581,598...93,616,983
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G |
METTL25B |
methyltransferase like 25B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,358,140...93,366,169
Ensembl chr 4:93,358,143...93,366,082
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G |
MEX3A |
mex-3 RNA binding family member A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640
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G |
MFN2 |
mitofusin 2 |
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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 PMID:12601114 PMID:15064763 PMID:15297672 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16199547 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17576681 PMID:17940179 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18490623 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19618221 PMID:19812251 PMID:19889647 PMID:19909486 PMID:20008656 PMID:20193559 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20587496 PMID:20819609 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21601224 PMID:21647385 PMID:21707411 PMID:21715711 PMID:21735565 PMID:21772703 PMID:21840889 PMID:21892769 PMID:21987543 PMID:22189565 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22556188 PMID:22653593 PMID:22762946 PMID:22851605 PMID:22926664 PMID:22957060 PMID:23147504 PMID:23456260 PMID:23615052 PMID:23733358 PMID:23781337 PMID:23806086 PMID:23929728 PMID:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25412673 PMID:25448007 PMID:25614874 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25802885 PMID:25850958 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26306937 PMID:26307494 PMID:26316991 PMID:26365381 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26581383 PMID:26633542 PMID:26633545 PMID:26686600 PMID:26752306 PMID:26801520 PMID:26916081 PMID:26930221 PMID:26955893 PMID:26956144 PMID:26968460 PMID:26968897 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27100445 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27706887 PMID:27859025 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:28810241 PMID:28902413 PMID:29068134 PMID:29215088 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29625556 PMID:29674596 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30011089 PMID:30158064 PMID:30210586 PMID:30340945 PMID:30442897 PMID:30642740 PMID:30649465 PMID:30659145 PMID:30724636 PMID:30807887 PMID:30882371 PMID:31108397 PMID:31127728 PMID:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31315766 PMID:31372974 PMID:31407473 PMID:31453851 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32657593 PMID:32963807 PMID:33187793 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33578441 PMID:33841295 PMID:34060689 PMID:34103343 PMID:34193129 PMID:34232518 PMID:34354735 PMID:34366782 PMID:34721278 PMID:35418194 PMID:35922214 PMID:35938991 PMID:35994048 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
MIIP |
migration and invasion inhibitory protein |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:72,064,634...72,074,981
Ensembl chr 6:72,064,662...72,076,275
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G |
MINDY4 |
MINDY lysine 48 deubiquitinase 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694
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G |
MIR9-1 |
microRNA mir-9-1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,660,422...93,660,510
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G |
MME |
membrane metalloendopeptidase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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G |
MRPL24 |
mitochondrial ribosomal protein L24 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,352,997...93,357,805
Ensembl chr 4:93,353,111...93,357,796
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G |
MSTO1 |
misato mitochondrial distribution and morphology regulator 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034
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G |
MTHFR |
methylenetetrahydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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G |
MTOR |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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G |
MTX1 |
metaxin 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,606,576...94,611,439
Ensembl chr 4:94,606,562...94,611,865
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G |
MUC1 |
mucin 1, cell surface associated |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,626,317...94,631,194
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G |
NAXE |
NAD(P)HX epimerase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,493,234...93,495,912
Ensembl chr 4:93,490,537...93,496,396
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G |
NES |
nestin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893
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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707
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G |
NPPA |
natriuretic peptide A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
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G |
NPPB |
natriuretic peptide B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
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G |
PAQR6 |
progestin and adipoQ receptor family member 6 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,802,721...93,807,624
Ensembl chr 4:93,801,863...93,807,597
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G |
PBXIP1 |
PBX homeobox interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,837,365...94,847,652
Ensembl chr 4:94,832,270...94,847,648
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G |
PEX14 |
peroxisomal biogenesis factor 14 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072
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G |
PGD |
phosphogluconate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,675,751...70,692,697
Ensembl chr 6:70,675,815...70,692,679
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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G |
PKLR |
pyruvate kinase L/R |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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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 |
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NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
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G |
PMF1 |
polyamine modulated factor 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,810,863...93,836,786
Ensembl chr 4:93,810,507...93,837,652
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G |
PMVK |
phosphomevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771
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G |
PRCC |
proline rich mitotic checkpoint control factor |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177
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G |
RAB25 |
RAB25, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712
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G |
RAB7A |
RAB7A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
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NCBI chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694
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G |
RBP7 |
retinol binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,313,316...70,326,407
Ensembl chr 6:70,313,309...70,326,455
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G |
RHBG |
Rh family B glycoprotein |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,694,259...93,708,055
Ensembl chr 4:93,694,266...93,707,865
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G |
RIT1 |
Ras like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384
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G |
RUSC1 |
RUN and SH3 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,489,202...94,499,993
Ensembl chr 4:94,489,207...94,499,256
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G |
RXFP4 |
relaxin family peptide/INSL5 receptor 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224
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G |
SCAMP3 |
secretory carrier membrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,570,563...94,575,265
Ensembl chr 4:94,570,563...94,575,265
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G |
SEMA4A |
semaphorin 4A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371
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G |
SETX |
senataxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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G |
SF3B3 |
splicing factor 3b subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:13,524,519...13,578,681
Ensembl chr 6:13,524,717...13,578,680
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G |
SH2D2A |
SH2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205
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G |
SHC1 |
SHC adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
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G |
SHE |
Src homology 2 domain containing E |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099
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G |
SLC25A33 |
solute carrier family 25 member 33 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:69,934,810...69,969,091
Ensembl chr 6:69,934,834...69,969,084
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G |
SLC25A44 |
solute carrier family 25 member 44 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 4:93,837,004...93,857,154
Ensembl chr 4:93,837,009...93,857,158
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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 |
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NCBI chr 4:94,663,057...94,665,486
Ensembl chr 4:94,663,059...94,665,467
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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 |
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NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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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 |
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NCBI chr 4:93,770,329...93,801,808
Ensembl chr 4:93,770,378...93,800,650
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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 |
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NCBI chr 6:69,720,538...69,789,566
Ensembl chr 6:69,720,806...69,791,119
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G |
SRM |
spermidine synthase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,246,876...71,253,508
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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 |
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NCBI chr 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962
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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
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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 |
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NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049
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G |
TARDBP |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704
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G |
TDRD10 |
tudor domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502
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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 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:27601211 PMID:28124177 PMID:28166811 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 PMID:30221345 PMID:30467354 PMID:33726816 PMID:35642252 More...
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NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,579...158,326,885
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G |
THBS3 |
thrombospondin 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,612,702...94,623,905
Ensembl chr 4:94,611,593...94,623,902
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G |
TMEM201 |
transmembrane protein 201 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:69,973,378...69,998,548
Ensembl chr 6:69,973,397...69,998,544
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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 |
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NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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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
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G |
TPM3 |
tropomyosin 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938
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G |
TRIM46 |
tripartite motif containing 46 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:94,632,073...94,642,756
Ensembl chr 4:94,632,077...94,642,705
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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 |
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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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 |
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NCBI chr 4:93,725,672...93,735,029
Ensembl chr 4:93,725,531...93,728,761
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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 |
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NCBI chr 4:93,500,900...93,512,039
Ensembl chr 4:93,500,564...93,510,815
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G |
UBAP2L |
ubiquitin associated protein 2 like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425
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G |
UBE2Q1 |
ubiquitin conjugating enzyme E2 Q1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530
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G |
UBE4B |
ubiquitination factor E4B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:70,345,789...70,462,434
Ensembl chr 6:70,345,813...70,462,434
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G |
UBIAD1 |
UbiA prenyltransferase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:71,419,559...71,431,275
Ensembl chr 6:71,419,602...71,433,210
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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 |
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NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828
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G |
VPS13D |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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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 |
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NCBI chr 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657
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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 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31420593 PMID:32579787 More...
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NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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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 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 PMID:32376792 More...
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NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792
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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 PMID:10923043 PMID:11080237 PMID:12207153 PMID:12911457 PMID:12948789 PMID:15159512 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 More...
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NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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G |
GDAP1 |
ganglioside induced differentiation associated protein 1 |
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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
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G |
NEFH |
neurofilament heavy chain |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C |
ClinVar |
PMID:25741868 |
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NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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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 PMID:8179305 PMID:9536098 PMID:10463355 PMID:11891693 PMID:12884428 PMID:14755468 PMID:15668982 PMID:16199547 PMID:17576681 PMID:17879966 PMID:18587396 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:23306656 PMID:24319099 PMID:24342753 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24830047 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25363768 PMID:25703509 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26046366 PMID:26048687 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27066566 PMID:27330106 PMID:27549087 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29770609 PMID:29776788 PMID:29858556 PMID:30214761 PMID:30230566 PMID:30373780 PMID:30564185 PMID:31041394 PMID:31191204 PMID:31407473 PMID:31468327 PMID:31475037 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:33303739 PMID:33908178 PMID:34008892 PMID:34529350 More...
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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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 PMID:29587262 PMID:30992180 PMID:35047667 More...
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NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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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 PMID:16155736 PMID:16215937 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18587268 PMID:18832141 PMID:18952241 PMID:19435728 PMID:20178975 PMID:20660910 PMID:20870250 PMID:21611841 PMID:21785432 PMID:21892769 PMID:21971574 PMID:21983720 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22206013 PMID:22484489 PMID:22521462 PMID:22734906 PMID:23379525 PMID:23530264 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:24505562 PMID:24607769 PMID:24719117 PMID:25025039 PMID:25088881 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25614874 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26046366 PMID:26077850 PMID:26141737 PMID:26467025 PMID:26675522 PMID:26752306 PMID:26768280 PMID:26986878 PMID:26989944 PMID:27492805 PMID:27816334 PMID:27830184 PMID:27862672 PMID:28000086 PMID:28077174 PMID:28105056 PMID:28144995 PMID:28286897 PMID:28379183 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:28717666 PMID:28797631 PMID:28828227 PMID:28969372 PMID:29031079 PMID:29048431 PMID:29330367 PMID:29381233 PMID:29547183 PMID:29858556 PMID:30373780 PMID:30669930 PMID:30758704 PMID:30842409 PMID:31069529 PMID:31573509 PMID:31630804 PMID:31919945 PMID:32298515 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:32397312 PMID:33509756 PMID:33686258 PMID:33943041 PMID:34354735 PMID:35328016 PMID:36291591 More...
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NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
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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 |
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NCBI chr 4:91,227,362...91,260,125
Ensembl chr 4:91,227,363...91,260,097
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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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 PMID:11157803 PMID:12442286 PMID:12497640 PMID:16575836 PMID:19948535 PMID:20301450 PMID:20437614 PMID:21752016 PMID:22040217 PMID:22487239 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25676721 PMID:25741868 PMID:26760175 PMID:28492532 PMID:32065591 More...
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NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
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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 PMID:21628467 PMID:25741868 PMID:27485015 PMID:28492532 PMID:31439721 PMID:33323309 PMID:35733399 More...
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NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323
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G |
ACOX1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr12:5,450,913...5,479,550
Ensembl chr12:5,439,361...5,479,546
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ELOC |
elongin C |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K |
ClinVar |
PMID:15805163 PMID:20685671 PMID:21681106 |
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NCBI chr 4:61,971,103...61,989,392
Ensembl chr 4:61,971,426...61,990,151
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GDAP1 |
ganglioside induced differentiation associated protein 1 |
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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 PMID:12601710 PMID:12707075 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19089472 PMID:19340293 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21519004 PMID:21681106 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22730194 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:25741909 PMID:26257172 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391 PMID:31589614 PMID:31673878 PMID:32183277 PMID:32376792 PMID:33136338 PMID:33187793 PMID:33477664 PMID:33903021 PMID:34366782 PMID:35656516 PMID:35662277 PMID:36140714 More...
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NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049
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G |
JPH1 |
junctophilin 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K |
OMIM ClinVar |
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 |
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NCBI chr 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544
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LY96 |
lymphocyte antigen 96 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K |
ClinVar |
PMID:15805163 PMID:20685671 PMID:21681106 |
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NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697
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G |
TMEM70 |
transmembrane protein 70 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K |
ClinVar |
PMID:15805163 PMID:20685671 PMID:21681106 |
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NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024
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UBE2W |
ubiquitin conjugating enzyme E2 W |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K |
ClinVar |
PMID:15805163 PMID:20685671 PMID:21681106 |
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NCBI chr 4:62,046,568...62,084,679
Ensembl chr 4:62,014,059...62,098,400
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HSPB8 |
heat shock protein family B (small) member 8 |
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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 PMID:20157854 PMID:20538880 PMID:20858900 PMID:21985219 PMID:22176143 PMID:23389032 PMID:25206829 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 PMID:28501893 PMID:28747872 PMID:28780615 PMID:32376792 More...
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NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792
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AARS1 |
alanyl-tRNA synthetase 1 |
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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 PMID:21494555 PMID:22009580 PMID:22206013 PMID:22573628 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25741868 PMID:25817015 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27993330 PMID:28492532 PMID:28493438 PMID:28902413 PMID:29653220 PMID:30124830 PMID:31827005 PMID:32314272 PMID:32376792 PMID:33294374 PMID:34446925 More...
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NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383
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ATL3 |
atlastin GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N |
ClinVar |
PMID:21494555 PMID:28492532 |
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NCBI chr 2:8,361,579...8,408,920
Ensembl chr 2:8,361,774...8,408,917
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ADSS1 |
adenylosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
AHNAK2 |
AHNAK nucleoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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AMN |
amnion associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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ANKRD9 |
ankyrin repeat domain 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
APOPT1 |
apoptogenic 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
ASPG |
asparaginase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
ATP5MJ |
ATP synthase membrane subunit j |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
BAG5 |
BAG cochaperone 5 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
BTBD6 |
BTB domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CDC42BPB |
CDC42 binding protein kinase beta |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CDCA4 |
cell division cycle associated 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CEP170B |
centrosomal protein 170B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CINP |
cyclin dependent kinase 2 interacting protein |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CKB |
creatine kinase B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CLBA1 |
clathrin binding box of aftiphilin containing 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
CUnH14orf180 |
chromosome Un C14orf180 homolog |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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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 PMID:16199547 PMID:16519653 PMID:17576681 PMID:18414213 PMID:19074350 PMID:20301532 PMID:20697106 PMID:21076407 PMID:21102439 PMID:21820100 PMID:22368300 PMID:22398446 PMID:22426545 PMID:22459677 PMID:22847149 PMID:23603762 PMID:23664119 PMID:23664120 PMID:24033266 PMID:24136616 PMID:24307404 PMID:25025039 PMID:25140959 PMID:25326635 PMID:25363760 PMID:25417161 PMID:25470043 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25590979 PMID:25609763 PMID:25635128 PMID:25700176 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26395554 PMID:26467025 PMID:26633542 PMID:26795593 PMID:26846447 PMID:27066557 PMID:27331017 PMID:27549087 PMID:27754416 PMID:28135719 PMID:28193117 PMID:28196890 PMID:28263302 PMID:28325891 PMID:28492532 PMID:28554332 PMID:28554554 PMID:28602352 PMID:28783747 PMID:29243232 PMID:29286531 PMID:29314763 PMID:29379136 PMID:29653220 PMID:29671837 PMID:30031633 PMID:30122514 PMID:30168217 PMID:30504930 PMID:30687093 PMID:31127727 PMID:31164858 PMID:31278258 PMID:31364990 PMID:31372974 PMID:31618753 PMID:31680123 PMID:32238909 PMID:32376792 PMID:32397312 PMID:32656949 PMID:32788638 PMID:32947049 PMID:33818783 PMID:35099838 PMID:35231114 PMID:36175372 More...
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G |
EIF5 |
eukaryotic translation initiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
EXOC3L4 |
exocyst complex component 3 like 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
GPR132 |
G protein-coupled receptor 132 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
KIF26A |
kinesin family member 26A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
KLC1 |
kinesin light chain 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
MARK3 |
microtubule affinity regulating kinase 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
MOK |
MOK protein kinase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
NUDT14 |
nudix hydrolase 14 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
PLD4 |
phospholipase D family member 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
PPP1R13B |
protein phosphatase 1 regulatory subunit 13B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
PPP2R5C |
protein phosphatase 2 regulatory subunit B'gamma |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
RCOR1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
RD3L |
RD3 like |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
SIVA1 |
SIVA1 apoptosis inducing factor |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TDRD9 |
tudor domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TECPR2 |
tectonin beta-propeller repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TMEM179 |
transmembrane protein 179 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TNFAIP2 |
TNF alpha induced protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TRAF3 |
TNF receptor associated factor 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
TRMT61A |
tRNA methyltransferase 61A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
WDR20 |
WD repeat domain 20 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
XRCC3 |
X-ray repair cross complementing 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
ZBTB42 |
zinc finger and BTB domain containing 42 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
ZFYVE21 |
zinc finger FYVE-type containing 21 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
ZNF839 |
zinc finger protein 839 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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G |
LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
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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 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25133958 PMID:25741868 PMID:26392352 PMID:26752306 PMID:26900582 PMID:27164712 PMID:27353043 PMID:27462242 PMID:27549087 PMID:27615052 PMID:27686364 PMID:27848944 PMID:28286897 PMID:28335037 PMID:28492532 PMID:28600779 PMID:29341362 PMID:29417091 PMID:29845787 PMID:30373780 PMID:30996334 PMID:31211173 PMID:31852984 PMID:32376792 PMID:33414056 PMID:33568173 PMID:34060689 PMID:34190362 PMID:35234685 PMID:35922214 More...
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NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825
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G |
DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
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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 PMID:25860818 PMID:28492532 PMID:29669943 More...
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NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290
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G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
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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 PMID:15108294 PMID:15797190 PMID:16199547 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25280635 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25568292 PMID:25741868 PMID:25741915 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26752306 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28251916 PMID:28492532 PMID:29653221 PMID:29858556 PMID:30598237 PMID:31020813 PMID:31178897 PMID:32190976 PMID:32376792 PMID:32709422 PMID:34190362 PMID:34255403 More...
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NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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G |
DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991
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G |
MME |
membrane metalloendopeptidase |
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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 PMID:27588448 PMID:28492532 PMID:30415211 PMID:31673878 PMID:33144514 PMID:34758253 PMID:35318247 PMID:36517691 More...
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NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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G |
ARHGAP9 |
Rho GTPase activating protein 9 |
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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 |
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NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049
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G |
DCTN2 |
dynactin subunit 2 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr 5:22,799,286...22,814,358
Ensembl chr 5:22,799,287...22,814,362
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G |
DDIT3 |
DNA damage inducible transcript 3 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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G |
KIF5A |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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G |
MARS1 |
methionyl-tRNA synthetase 1 |
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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 PMID:22406018 PMID:23729695 PMID:24103465 PMID:24354524 PMID:24482476 PMID:25640679 PMID:25741868 PMID:25913036 PMID:28148924 PMID:28492532 PMID:28708278 PMID:29582526 PMID:29655802 PMID:29775242 PMID:30723866 PMID:31356216 PMID:32376792 PMID:33909043 PMID:34169998 PMID:34298581 PMID:34496286 PMID:34585293 PMID:34813128 PMID:35303589 PMID:35723632 More...
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NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501
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G |
MBD6 |
methyl-CpG binding domain protein 6 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr 5:22,790,220...22,799,131
Ensembl chr 5:22,791,437...22,799,126
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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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 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836 PMID:30404819 PMID:30637288 More...
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NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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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 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18408091 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19105190 PMID:19196735 PMID:19438933 PMID:19513778 PMID:20110243 PMID:20301389 PMID:20390432 PMID:21625935 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22696581 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24731568 PMID:24833714 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26467025 PMID:26556829 PMID:26742954 PMID:27071356 PMID:27217339 PMID:27457812 PMID:27544499 PMID:27790088 PMID:27900367 PMID:27957547 PMID:28119845 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:29246610 PMID:29525178 PMID:29691679 PMID:29908077 PMID:29980238 PMID:30363882 PMID:30373780 PMID:31289639 PMID:31692161 PMID:32005694 PMID:32166880 PMID:32293029 PMID:32397312 PMID:32483926 PMID:32987860 PMID:32989326 PMID:33397523 PMID:33414559 PMID:33589474 PMID:34153142 PMID:35752680 PMID:36028943 More...
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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
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
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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 PMID:25741868 PMID:25741893 PMID:25741916 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:27329773 PMID:27794525 PMID:28135719 PMID:28334961 PMID:28402445 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31211173 PMID:31475037 PMID:31618753 PMID:31785789 PMID:32693025 PMID:33844363 PMID:34059105 PMID:34189813 More...
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NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628
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G |
DGAT2 |
diacylglycerol O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 |
ClinVar |
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NCBI chr 9:10,032,163...10,066,082
Ensembl chr 9:10,032,128...10,068,437
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G |
KIF1B |
kinesin family member 1B |
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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 PMID:29590070 PMID:30126838 PMID:31130284 PMID:32376792 More...
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NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 |
ClinVar |
PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 PMID:25741868 PMID:28492532 PMID:29499166 PMID:30388404 PMID:31705535 PMID:31707753 More...
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NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547
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G |
DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
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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 PMID:26141459 PMID:28492532 PMID:29752936 PMID:29858556 PMID:32303640 PMID:32695416 PMID:32768327 More...
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NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290
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G |
MFN2 |
mitofusin 2 |
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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 PMID:15064763 PMID:15136675 PMID:15297672 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19618221 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21601224 PMID:21707411 PMID:21715711 PMID:21735565 PMID:21772703 PMID:21840889 PMID:21987543 PMID:22189565 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22762946 PMID:22851605 PMID:22926664 PMID:23456260 PMID:23733358 PMID:23781337 PMID:23806086 PMID:24033266 PMID:24053775 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26147798 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26316991 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26686600 PMID:26801520 PMID:26955893 PMID:26968460 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27100445 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29068134 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29625556 PMID:29674596 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30158064 PMID:30340945 PMID:30442897 PMID:30649465 PMID:30659145 PMID:30882371 PMID:31108397 PMID:31127728 PMID:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31372974 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32657593 PMID:32963807 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34232518 PMID:34354735 PMID:34366782 PMID:34721278 PMID:35418194 PMID:35938991 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
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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 PMID:28492532 PMID:29752936 PMID:29858556 PMID:32303640 PMID:32695416 PMID:32768327 More...
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NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290
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G |
MFN2 |
mitofusin 2 |
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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 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22762946 PMID:22851605 PMID:22926664 PMID:23456260 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24473995 PMID:24604904 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25741909 PMID:25802885 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26147798 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26316991 PMID:26382835 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26686600 PMID:26801520 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29068134 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29625556 PMID:29674596 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30158064 PMID:30340945 PMID:30442897 PMID:30649465 PMID:30659145 PMID:30882371 PMID:31108397 PMID:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31372974 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32657593 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34354735 PMID:34366782 PMID:35418194 PMID:35938991 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
MFN2 |
mitofusin 2 |
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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 PMID:16199547 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17437620 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21531138 PMID:21576112 PMID:21715711 PMID:21840889 PMID:22442078 PMID:22492563 PMID:22494076 PMID:23147504 PMID:23456260 PMID:23781337 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24819634 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25614874 PMID:25741868 PMID:25741909 PMID:26085578 PMID:26114802 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26316991 PMID:26382835 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26801520 PMID:26955893 PMID:28215760 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29068134 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29625556 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30158064 PMID:30340945 PMID:30649465 PMID:30659145 PMID:30882371 PMID:31186069 PMID:31640251 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32214227 PMID:32399692 PMID:32657593 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34354735 PMID:35418194 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
ACAD9 |
acyl-CoA dehydrogenase family member 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B |
ClinVar |
PMID:28492532 |
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NCBI chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126
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G |
CFAP92 |
cilia and flagella associated protein 92 (putative) |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B |
ClinVar |
PMID:28492532 |
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NCBI chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763
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G |
RAB7A |
RAB7A, member RAS oncogene family |
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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 PMID:17060578 PMID:17576681 PMID:18272684 PMID:18501189 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:23458836 PMID:24344282 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 PMID:29130394 PMID:32326241 PMID:33846303 PMID:35887194 More...
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NCBI chr13:71,777,422...71,886,758
Ensembl chr13:71,777,424...71,852,694
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G |
LMNA |
lamin A/C |
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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 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15744034 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16809772 PMID:16990647 PMID:17250669 PMID:17274801 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20576434 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21479595 PMID:21483645 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22883396 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25025039 PMID:25214167 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25741916 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31410651 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33916827 PMID:33963534 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35291351 PMID:35434999 PMID:35449878 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
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NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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G |
MED25 |
mediator complex subunit 25 |
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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 PMID:32324310 PMID:32371413 PMID:32376792 More...
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NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
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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 PMID:16199547 PMID:18414213 PMID:20118933 PMID:20852255 PMID:23833122 PMID:24033266 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:28453785 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:33654647 PMID:34009545 More...
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NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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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 PMID:16014653 PMID:16199547 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17545306 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:21737751 PMID:22462675 PMID:24078732 PMID:24604904 PMID:24627108 PMID:24669931 PMID:25168514 PMID:25326637 PMID:25420567 PMID:25476837 PMID:25614874 PMID:25621899 PMID:25741868 PMID:26138142 PMID:26244500 PMID:26467025 PMID:26503042 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29648643 PMID:29858556 PMID:31173493 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32181591 PMID:32376792 PMID:32403337 PMID:32909314 More...
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NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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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 PMID:25741868 PMID:28492532 PMID:29499166 PMID:30388404 PMID:31705535 PMID:31707753 More...
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NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547
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G |
CDCA2 |
cell division cycle associated 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
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NCBI chr14:9,517,763...9,571,303
Ensembl chr14:9,518,201...9,566,588
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G |
DOCK5 |
dedicator of cytokinesis 5 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
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NCBI chr14:9,197,280...9,438,715
Ensembl chr14:9,197,293...9,436,249
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G |
EBF2 |
EBF transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
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NCBI chr14:9,816,992...10,027,574
Ensembl chr14:9,817,002...10,025,164
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G |
GNRH1 |
gonadotropin releasing hormone 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
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NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
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G |
KCTD9 |
potassium channel tetramerization domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
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NCBI chr14:9,453,086...9,517,686
Ensembl chr14:9,455,071...9,517,691
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G |
NEFL |
neurofilament light chain |
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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 PMID:12477167 PMID:12481988 PMID:12566280 PMID:14733962 PMID:15111691 PMID:15241803 PMID:15282209 PMID:16199547 PMID:16452125 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17576681 PMID:17620486 PMID:17881652 PMID:18023247 PMID:19123978 PMID:19158810 PMID:19286384 PMID:19458545 PMID:20039262 PMID:20301384 PMID:20421365 PMID:21149811 PMID:21168446 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22730194 PMID:22765307 PMID:23230147 PMID:23618875 PMID:24078732 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25583183 PMID:25614874 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26392352 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:29888333 PMID:30373780 PMID:30393079 PMID:31211173 PMID:31372974 PMID:31574566 PMID:31788662 PMID:31827005 PMID:32376792 PMID:33201363 PMID:34476298 PMID:35044100 PMID:35771920 More...
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
PMP22 |
peripheral myelin protein 22 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:9040737 PMID:9371959 PMID:9712007 PMID:20301384 PMID:21252112 PMID:21692910 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 More...
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NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925
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G |
FBN1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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G |
MPV17 |
mitochondrial inner membrane protein MPV17 |
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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 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:22964873 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25741916 PMID:25861990 PMID:26437932 PMID:26467025 PMID:26741492 PMID:27536553 PMID:27848944 PMID:28209105 PMID:28492532 PMID:28673863 PMID:29282788 PMID:29318572 PMID:30273399 PMID:30298599 PMID:30782936 PMID:30833296 PMID:31319225 PMID:31664948 PMID:31673878 PMID:32703289 PMID:33258288 PMID:33486010 PMID:34476298 PMID:34979697 More...
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NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE |
ClinVar |
PMID:17620486 PMID:25741868 PMID:28492532 |
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
TRIM54 |
tripartite motif containing 54 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30298599 |
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NCBI chr 3:111,836,038...111,852,468
Ensembl chr 3:111,834,181...111,852,744
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G |
UCN |
urocortin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30298599 |
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NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508
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G |
MPZ |
myelin protein zero |
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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 PMID:9187667 PMID:9452091 PMID:9595994 PMID:9633821 PMID:10071056 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11935267 PMID:12207153 PMID:12242557 PMID:12402337 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:14638973 PMID:14711881 PMID:15004559 PMID:15159512 PMID:15241803 PMID:15249646 PMID:15377707 PMID:16279991 PMID:16543539 PMID:16775239 PMID:16987171 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20385006 PMID:20461396 PMID:20556410 PMID:21149811 PMID:22433810 PMID:24053775 PMID:24444136 PMID:25326637 PMID:25429913 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:27639257 PMID:28286897 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 PMID:31902012 PMID:33179255 PMID:34008892 More...
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NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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G |
SDHC |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I |
ClinVar |
PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 |
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NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118
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G |
MPZ |
myelin protein zero |
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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 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11545686 PMID:12207153 PMID:12402337 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:14711881 PMID:15004559 PMID:15159512 PMID:15241803 PMID:15326256 PMID:15377707 PMID:16279991 PMID:16775239 PMID:17663472 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:22433810 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29465609 PMID:29687021 PMID:31211173 PMID:31827005 PMID:33179255 More...
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NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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G |
TRIM2 |
tripartite motif containing 2 |
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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 PMID:24088041 PMID:25741868 PMID:25893792 PMID:26257172 PMID:28492532 More...
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NCBI chr 8:75,770,344...75,939,812
Ensembl chr 8:75,771,048...75,890,357
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G |
VCP |
valosin containing protein |
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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 PMID:22900631 PMID:23000505 PMID:23333620 PMID:23498975 PMID:24196964 PMID:25125609 PMID:25741868 PMID:25878907 PMID:26105173 PMID:26467025 PMID:27226613 PMID:27708273 PMID:28360103 PMID:28492532 PMID:28692196 PMID:29127544 PMID:30279455 PMID:32481679 More...
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NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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G |
HARS1 |
histidyl-tRNA synthetase 1 |
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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 PMID:28492532 PMID:29235198 PMID:29790872 PMID:32543048 More...
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NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
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G |
MFN2 |
mitofusin 2 |
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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 PMID:20482598 PMID:22492563 PMID:24033266 PMID:24126688 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:28251916 PMID:28414270 PMID:28492532 PMID:29358271 PMID:30158064 PMID:33415332 PMID:33502018 More...
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
TFG |
trafficking from ER to golgi regulator |
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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 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:27601211 PMID:28124177 PMID:28166811 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 PMID:30221345 PMID:30467354 PMID:33726816 PMID:35642252 More...
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NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,579...158,326,885
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