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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:25640679 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 chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
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G |
ADAM15 |
ADAM metallopeptidase domain 15 |
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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 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
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G |
ADAR |
adenosine deaminase RNA specific |
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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 1:129,937,993...129,983,747
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G |
AGTRAP |
angiotensin II receptor associated 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 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326
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G |
ANGPTL7 |
angiopoietin like 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 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048
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G |
AQP1 |
aquaporin 1 (Colton blood group) |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
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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 1:129,677,969...129,682,681
Ensembl chr 1:133,291,027...133,295,265
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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 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
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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 1:130,679,868...130,906,918
Ensembl chr 1:134,286,761...134,468,722
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G |
ATP7A |
ATPase copper transporting alpha |
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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:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756
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G |
ATP8B2 |
ATPase phospholipid transporting 8B2 |
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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 1:129,682,886...129,708,702
Ensembl chr 1:133,295,437...133,319,167
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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 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
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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 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
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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:18612770 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:24503134 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:29269637 PMID:29336362 PMID:29478747 PMID:29482223 PMID:29934652 PMID:30150100 PMID:30903322 PMID:30919572 PMID:31369919 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32041611 PMID:32320108 PMID:32397312 PMID:32792356 PMID:34085946 PMID:34232518 PMID:34942918 PMID:35351089 PMID:35922214 More...
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NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
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G |
C1H1orf167 |
chromosome 1 C1orf167 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155
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G |
C1H1orf43 |
chromosome 1 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 1:129,562,110...129,575,866
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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 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091
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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 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
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G |
CENPS |
centromere protein S |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,190,303...9,211,812
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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 |
|
NCBI chr 1:129,554,502...129,562,071
Ensembl chr 1:133,168,973...133,175,964
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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 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361
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G |
CIROZ |
ciliated left-right organizer protein containing ZP-N domains |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,707,483...9,725,888
Ensembl chr 1:10,929,614...10,966,254
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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 1:130,323,170...130,327,762
Ensembl chr 1:133,932,899...133,937,491
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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 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
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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 |
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NCBI chr 1:130,607,877...130,618,461
Ensembl chr 1:134,213,237...134,221,288
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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 1:8,495,571...8,591,613
Ensembl chr 1:9,724,743...9,774,760
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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 chr16:54,491,189...54,533,770
Ensembl chr16:70,318,788...70,360,843
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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 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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G |
CORT |
cortistatin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,210,186...9,212,201
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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 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145
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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 chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
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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 |
|
Ensembl chr 1:9,846,511...9,882,049
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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 |
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NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280
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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 1:130,381,851...130,398,975
Ensembl chr 1:133,991,485...134,008,614
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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 1:130,366,692...130,382,001
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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 chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
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G |
DDX19A |
DEAD-box helicase 19A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:54,643,745...54,670,285
Ensembl chr16:70,179,241...70,211,638
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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 1:9,221,096...9,232,813
Ensembl chr 1:10,445,553...10,457,547
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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 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410
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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 chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
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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 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
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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 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012
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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 |
|
NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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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 1:130,475,128...130,482,531
Ensembl chr 1:134,083,855...134,091,228
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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 1:130,426,910...130,435,628
Ensembl chr 1:134,036,490...134,045,213
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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 1:130,410,991...130,417,593
Ensembl chr 1:134,021,405...134,027,212
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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:143,792,178...143,794,530
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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 1:130,592,215...130,600,884
Ensembl chr 1:134,197,555...134,205,476
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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 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241
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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 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171
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G |
FBXO44 |
F-box protein 44 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 |
ClinVar |
PMID:28492532 |
|
Ensembl chr 1:11,632,768...11,640,846
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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 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837 Ensembl chr 1:11,643,009...11,654,837 Ensembl chr 1:11,643,009...11,654,837
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G |
FCSK |
fucose kinase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:54,534,064...54,559,894
Ensembl chr16:70,294,061...70,318,493
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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 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
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G |
FKBP14 |
FKBP prolyl isomerase 14 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
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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 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399
|
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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:34813128 PMID:35304488 PMID:36738734 PMID:37091313 More...
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NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
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G |
GBA1 |
glucosylceramidase beta 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 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
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G |
GGCT |
gamma-glutamylcyclotransferase |
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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 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903
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G |
GHRHR |
growth hormone releasing hormone receptor |
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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 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
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G |
GLMP |
glycosylated lysosomal membrane protein |
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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 1:131,635,614...131,638,610
Ensembl chr 1:135,465,671...135,468,666
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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 |
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NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042
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G |
H6PD |
hexose-6-phosphate dehydrogenase/glucose 1-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 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631
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G |
HAPLN2 |
hyaluronan and proteoglycan link protein 2 |
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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 1:131,962,801...131,969,331
Ensembl chr 1:135,785,754...135,792,652
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G |
HAX1 |
HCLS1 associated protein X-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 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
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G |
HCN3 |
hyperpolarization activated cyclic nucleotide gated potassium channel 3 |
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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 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120
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G |
HDGF |
heparin binding growth 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 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
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NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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G |
HSPB3 |
heat shock protein family B (small) member 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 PMID:32323160 |
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NCBI chr 5:59,566,129...59,569,668
Ensembl chr 5:61,190,585...61,191,037
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G |
IL34 |
interleukin 34 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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Ensembl chr16:70,480,917...70,494,693
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G |
IL6R |
interleukin 6 receptor |
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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 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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G |
INMT |
indolethylamine N-methyltransferase |
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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 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661
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G |
INSRR |
insulin receptor related receptor |
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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 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
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G |
IQGAP3 |
IQ motif containing GTPase activating protein 3 |
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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 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564
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G |
ISG20L2 |
interferon stimulated exonuclease gene 20 like 2 |
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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 1:132,064,860...132,071,722
Ensembl chr 1:135,887,702...135,892,908
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G |
KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
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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 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366
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G |
KHDC4 |
KH domain containing 4, pre-mRNA splicing 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 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760
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G |
KIAA2013 |
KIAA2013 ortholog |
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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 1:10,669,585...10,676,372
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G |
KIF1A |
kinesin family member 1A |
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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...
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NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
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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 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:25326637 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...
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NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577 Ensembl chr 1:10,198,997...10,364,577
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G |
KIF5A |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:20386726 PMID:25008398 PMID:25741868 PMID:29892902 |
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NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
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G |
KRTCAP2 |
keratinocyte associated protein 2 |
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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 1:130,517,075...130,526,621
Ensembl chr 1:134,125,272...134,129,527
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G |
LAMTOR2 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 |
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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 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167
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G |
LBHD1 |
LBH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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G |
LENEP |
lens epithelial protein |
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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 1:130,341,395...130,342,409
Ensembl chr 1:133,950,896...133,951,081
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G |
LMNA |
lamin A/C |
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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: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:8344919 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:12854972 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:15473259 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:16046620 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:17274801 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:17605093 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:20590677 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:23483212 PMID:23497705 PMID:23582089 PMID:23631840 PMID:23644458 PMID:23666920 PMID:23701190 PMID:23702046 PMID:23703017 PMID:23757202 PMID:23775434 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:24459210 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:25569433 PMID:25572245 PMID:25617006 PMID:25637381 PMID:25640679 PMID:25656816 PMID:25741868 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:26743238 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:28123761 PMID:28125586 PMID:28152038 PMID:28166811 PMID:28199729 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28333919 PMID:28341588 PMID:28349240 PMID:28403181 PMID:28408391 PMID:28416588 PMID:28425981 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:29618840 PMID:29620724 PMID:29676528 PMID:29693488 PMID:29709087 PMID:29753763 PMID:29770364 PMID:29773157 PMID:29791652 PMID:29845577 PMID:29892087 PMID:29893365 PMID:29895224 PMID:29907918 PMID:29943882 PMID:29947763 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:30199159 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:30595509 PMID:30696354 PMID:30739589 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:31127727 PMID:31194872 PMID:31208058 PMID:31263448 PMID:31264968 PMID:31270292 PMID:31293201 PMID:31296869 PMID:31303467 PMID:31317183 PMID:31322791 PMID:31378009 PMID:31383942 PMID:31402444 PMID:31410651 PMID:31428229 PMID:31434876 PMID:31447099 PMID:31453089 PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31527676 PMID:31744510 PMID:31762841 PMID:31791368 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31847799 PMID:31857427 PMID:31931689 PMID:31957533 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32021920 PMID:32041611 PMID:32041989 PMID:32083564 PMID:32155092 PMID:32160020 PMID:32193531 PMID:32245113 PMID:32297714 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32456328 PMID:32458740 PMID:32461654 PMID:32475984 PMID:32517491 PMID:32528171 PMID:32548202 PMID:32571898 PMID:32616434 PMID:32666643 PMID:32685188 PMID:32695585 PMID:32698523 PMID:32727917 PMID:32740430 PMID:32746448 PMID:32789579 PMID:32789750 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32846814 PMID:32880476 PMID:32913962 PMID:32939435 PMID:32943904 PMID:32954377 PMID:33029862 PMID:33038109 PMID:33070394 PMID:33170376 PMID:33250842 PMID:33258288 PMID:33293369 PMID:33304817 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33500567 PMID:33502018 PMID:33552729 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33824984 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33940562 PMID:33963534 PMID:34008892 PMID:34011823 PMID:34135346 PMID:34213952 PMID:34240052 PMID:34292171 PMID:34317510 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:34954454 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35284542 PMID:35288587 PMID:35291351 PMID:35384599 PMID:35387801 PMID:35434999 PMID:35449878 PMID:35470684 PMID:35526016 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35581137 PMID:35653365 PMID:35772917 PMID:35887646 PMID:36111332 PMID:36136372 PMID:36178741 PMID:36253810 PMID:36264615 PMID:36267857 PMID:36282542 PMID:36293084 PMID:36352512 PMID:36397776 PMID:36548481 PMID:36646731 PMID:36704457 PMID:36732629 PMID:36971006 PMID:37178278 PMID:37246508 PMID:37589201 PMID:37652022 PMID:37679847 PMID:37904629 PMID:38048861 PMID:38247853 PMID:38489124 PMID:38691546 More...
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
LOC100972613 |
G patch domain-containing protein 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 1:131,938,622...131,945,524
Ensembl chr 1:135,760,273...135,768,573
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G |
LOC100977130 |
tropomyosin alpha-3 chain |
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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 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
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G |
LOC100983642 |
putative uncharacterized protein RUSC1-AS1 |
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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 1:130,662,834...130,668,707
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G |
LOC100984626 |
ATP-dependent RNA helicase DDX19B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:54,683,291...54,718,133
Ensembl chr16:70,126,833...70,167,548
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G |
LOC100987557 |
metaxin-1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
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NCBI chr 1:130,553,631...130,558,744
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G |
LOC100988711 |
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 1:131,079,871...131,084,486
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G |
LOC134731237 |
ubiquinol-cytochrome-c reductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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G |
LRRN4CL |
LRRN4 C-terminal like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr11:58,042,970...58,046,697
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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:28492532 |
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NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
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G |
LZIC |
leucine zipper and CTNNBIP1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,698,579...8,712,867
Ensembl chr 1:9,928,998...9,942,490
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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526
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G |
MASP2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
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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 PMID:37091313 More...
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NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
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G |
MEF2D |
myocyte enhancer factor 2D |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 1:131,806,705...131,844,420
Ensembl chr 1:135,637,801...135,653,866
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G |
METTL25B |
methyltransferase like 25B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 1:132,071,430...132,080,297
Ensembl chr 1:135,892,971...135,901,981
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G |
MEX3A |
mex-3 RNA binding family member A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034
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G |
MFN2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type |
ClinVar |
PMID:8406488 PMID:9333264 PMID:9409358 PMID:9536098 PMID:10732809 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:17215402 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:25497598 PMID:25614874 PMID:25640679 PMID:25741868 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:26764160 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:27884173 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:30606759 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:31589614 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32483926 PMID:32522799 PMID:32657593 PMID:32963807 PMID:33187793 PMID:33333791 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33578441 PMID:33841295 PMID:34060689 PMID:34103343 PMID:34193129 PMID:34232518 PMID:34354735 PMID:34366782 PMID:34426522 PMID:34721278 PMID:35418194 PMID:35449525 PMID:35531120 PMID:35922214 PMID:35936615 PMID:35938991 PMID:35994048 PMID:36964972 PMID:37091313 PMID:37712079 PMID:37797217 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
MIIP |
migration and invasion inhibitory protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:10,770,412...10,783,414
Ensembl chr 1:11,986,808...11,999,330
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G |
MINDY4 |
MINDY lysine 48 deubiquitinase 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097
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G |
MME |
membrane metalloendopeptidase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33144514 |
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NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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G |
MRPL24 |
mitochondrial ribosomal protein L24 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
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NCBI chr 1:132,080,651...132,084,541
Ensembl chr 1:135,902,324...135,906,245
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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G |
MTSS2 |
MTSS I-BAR domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:54,331,300...54,338,656
Ensembl chr16:70,497,625...70,514,716
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G |
MTURN |
maturin, neural progenitor differentiation regulator homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:30,766,592...30,794,436
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G |
MUC1 |
mucin 1, cell surface associated |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
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G |
NAXE |
NAD(P)HX epimerase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,935,295...131,937,843
Ensembl chr 1:135,758,868...135,761,416
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G |
NES |
nestin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364
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G |
NOD1 |
nucleotide binding oligomerization domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742
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G |
NPPA |
natriuretic peptide A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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G |
NPPB |
natriuretic peptide B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
Ensembl chr 1:136,007,476...136,047,355
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|
G |
PAQR6 |
progestin and adipoQ receptor family member 6 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,586,557...131,591,263
Ensembl chr 1:135,416,530...135,421,662
|
|
G |
PBXIP1 |
PBX homeobox interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,292,611...130,304,667
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187
|
|
G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
|
|
G |
PKLR |
pyruvate kinase L/R |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
|
|
G |
PLEKHA8 |
pleckstrin homology domain containing A8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631
|
|
G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
|
|
G |
PMF1 |
polyamine modulated factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,556,843...131,583,180
|
|
G |
PMVK |
phosphomevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
|
|
G |
PRCC |
proline rich mitotic checkpoint control factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483
|
|
G |
PYGO2 |
pygopus family PHD finger 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,305,547...130,310,270
Ensembl chr 1:133,912,411...133,920,308
|
|
G |
RAB25 |
RAB25, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732
|
|
G |
RAB7A |
RAB7A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
|
|
NCBI chr 3:125,784,604...125,873,051
|
|
G |
RBP7 |
retinol binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,765,097...8,793,303
Ensembl chr 1:9,995,480...10,015,093
|
|
G |
RHBG |
Rh family B glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,710,282...131,728,487
Ensembl chr 1:135,538,519...135,555,803
|
|
G |
RIT1 |
Ras like without CAAX 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
|
|
G |
RUSC1 |
RUN and SH3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,665,390...130,675,635
Ensembl chr 1:134,270,420...134,280,592
|
|
G |
RXFP4 |
relaxin family peptide/INSL5 receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008
|
|
G |
SCAMP3 |
secretory carrier membrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,601,017...130,607,373
Ensembl chr 1:134,206,577...134,212,800
|
|
G |
SEMA4A |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
|
|
G |
SETX |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
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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 |
|
NCBI chr16:54,442,510...54,490,950
Ensembl chr16:70,361,068...70,410,042
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|
G |
SH2D2A |
SH2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
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|
G |
SHC1 |
SHC adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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|
G |
SHE |
Src homology 2 domain containing E |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841
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|
G |
SLC25A33 |
solute carrier family 25 member 33 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,300,384...8,343,270
Ensembl chr 1:9,541,918...9,574,549
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|
G |
SLC25A44 |
solute carrier family 25 member 44 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,535,399...131,556,750
Ensembl chr 1:135,366,049...135,387,643
|
|
G |
SLC50A1 |
solute carrier family 50 member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,483,056...130,486,534
Ensembl chr 1:134,092,045...134,095,233
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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 |
|
NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
|
|
G |
SMG5 |
SMG5 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,592,368...131,634,443
Ensembl chr 1:135,422,268...135,455,734
|
|
G |
SPSB1 |
splA/ryanodine receptor domain and SOCS box containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,053,596...8,132,143
Ensembl chr 1:9,349,825...9,363,624
|
|
G |
SRM |
spermidine synthase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,817,765...9,823,244
|
|
G |
SSR2 |
signal sequence receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,349,072...131,361,008
|
|
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 chr16:54,577,578...54,637,626
Ensembl chr16:70,218,748...70,240,162
|
|
G |
SYT11 |
synaptotagmin 11 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943
|
|
G |
TARDBP |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
|
|
G |
TDRD10 |
tudor domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193
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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 chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
|
|
G |
THBS3 |
thrombospondin 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,540,486...130,553,534
Ensembl chr 1:134,148,468...134,160,245
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|
G |
TMEM201 |
transmembrane protein 201 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,349,271...8,375,601
Ensembl chr 1:9,583,400...9,606,331
|
|
G |
TMEM79 |
transmembrane protein 79 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426
|
|
G |
TNFRSF1B |
TNF receptor superfamily member 1B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
|
|
G |
TNFRSF8 |
TNF receptor superfamily member 8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
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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 |
|
NCBI chr 1:130,521,472...130,532,636
Ensembl chr 1:134,129,984...134,142,362
|
|
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:25741868 PMID:28492532 |
|
NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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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 |
|
NCBI chr 1:131,679,671...131,709,720
Ensembl chr 1:135,509,160...135,516,912
|
|
G |
TTC24 |
tetratricopeptide repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,925,121...131,931,589
Ensembl chr 1:135,747,196...135,754,227
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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 |
|
NCBI chr 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090
|
|
G |
UBE2Q1 |
ubiquitin conjugating enzyme E2 Q1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 PMID:29845577 |
|
NCBI chr 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390
|
|
G |
UBE4B |
ubiquitination factor E4B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,801,707...8,949,465
Ensembl chr 1:10,033,084...10,178,759
|
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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 |
|
NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381
|
|
G |
UBQLN4 |
ubiquilin 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666
|
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G |
UBXN1 |
UBX domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:58,033,304...58,035,893
Ensembl chr11:61,386,797...61,389,404
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|
G |
VAC14 |
VAC14 component of PIKFYVE complex |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143
|
|
G |
VHLL |
VHL like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:131,641,713...131,642,132
|
|
G |
VPS13D |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
|
|
G |
YY1AP1 |
YY1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577 |
|
NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588
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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 |
|
NCBI chr 1:130,350,798...130,366,690
Ensembl chr 1:133,959,847...133,975,729
|
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G |
ZNRF2 |
zinc and ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:30,922,235...31,006,950
|
|
|
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:28106320 PMID:28166811 PMID:28492532 PMID:31420593 PMID:32579787 More...
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|
NCBI chr 5:143,814,446...143,873,919
Ensembl chr 5:149,834,109...149,881,903
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|
G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 |
ClinVar |
PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25220807 PMID:25429913 PMID:25741868 PMID:26467025 PMID:27816334 PMID:28000086 PMID:28379183 PMID:28492532 PMID:28797631 More...
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|
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
|
|
G |
HSPB8 |
heat shock protein family B (small) member 8 |
|
ISO |
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 chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
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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:24819634 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 PMID:33179255 PMID:33825325 PMID:34210210 PMID:36350884 More...
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NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
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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 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
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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 chr22:10,525,738...10,536,788
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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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: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:26639818 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:30385747 PMID:30564185 PMID:31041394 PMID:31191204 PMID:31407473 PMID:31468327 PMID:31475037 PMID:31928344 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:33303739 PMID:33908178 PMID:34008892 PMID:34529350 PMID:37091313 PMID:39033378 More...
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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NEFH |
neurofilament heavy chain |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition |
ClinVar OMIM |
PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29587262 PMID:30992180 PMID:32293029 PMID:35047667 PMID:38775181 More...
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NCBI chr22:10,525,738...10,536,788
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HSPB1 |
heat shock protein family B (small) member 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder |
OMIM ClinVar |
PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 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:21149811 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:28106320 PMID:28144995 PMID:28286897 PMID:28379183 PMID:28492532 PMID:28518168 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:31453292 PMID:31573509 PMID:31630804 PMID:31919945 PMID:32298515 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:32397312 PMID:32461654 PMID:33509756 PMID:33686258 PMID:33943041 PMID:34354735 PMID:35328016 PMID:36291591 More...
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NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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CADM3 |
cell adhesion molecule 3 |
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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 1:134,522,614...134,552,959
Ensembl chr 1:138,319,952...138,350,307
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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:10220506 PMID:11058898 PMID:11139239 PMID:12497640 PMID:19948535 PMID:20437614 PMID:21752016 PMID:22040217 PMID:23956173 PMID:24033266 PMID:25260786 PMID:25741868 PMID:26760175 PMID:28492532 PMID:32065591 More...
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NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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SLC12A6 |
solute carrier family 12 member 6 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition |
OMIM ClinVar |
PMID:9536098 PMID:12368912 PMID:12838516 PMID:16606917 PMID:17576681 PMID:17893295 PMID:18566107 PMID:21628467 PMID:25741868 PMID:27485015 PMID:27993330 PMID:28492532 PMID:31439721 PMID:33323309 PMID:35733399 PMID:36542484 More...
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NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
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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 chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
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BICD2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K |
ClinVar |
PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 |
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NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
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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 8:70,479,805...70,506,142
Ensembl chr 8:72,121,035...72,151,085
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G |
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: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:26257172 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391 PMID:31211173 PMID:31589614 PMID:31673878 PMID:32183277 PMID:32376792 PMID:33136338 PMID:33187793 PMID:33477664 PMID:33480199 PMID:33903021 PMID:34057104 PMID:34366782 PMID:35656516 PMID:35662277 PMID:36140714 PMID:37091313 More...
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NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
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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 8:70,768,560...70,855,068
Ensembl chr 8:72,413,794...72,505,309
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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 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372
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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 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239
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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 8:70,315,767...70,413,148
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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 chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
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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 chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
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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 chr11:58,980,645...59,029,720
Ensembl chr11:62,337,788...62,380,598
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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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Ensembl chr14:105,169,769...105,190,333
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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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NCBI chr14:85,587,016...85,627,319
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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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NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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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 PMID:30510536 |
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NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352
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G |
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 PMID:30510536 |
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NCBI chr14:83,122,024...83,128,173
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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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NCBI chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589
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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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NCBI chr14:84,538,422...84,547,088
Ensembl chr14:104,347,462...104,355,108
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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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NCBI chr14:84,182,879...84,189,180
Ensembl chr14:103,997,524...103,998,927
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G |
BRF1 |
BRF1 general transcription factor IIIB 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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NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
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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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NCBI chr14:85,883,988...85,886,491
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C15H14orf180 |
chromosome 15 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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NCBI chr14:85,226,995...85,242,300
Ensembl chr14:105,023,477...105,033,370
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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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NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989
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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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NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397
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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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NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523
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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 PMID:30510536 |
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NCBI chr14:82,969,659...82,984,299
Ensembl chr14:102,786,775...102,801,135
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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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NCBI chr14:84,145,931...84,149,093
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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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NCBI chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870
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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:10862709 PMID:12730604 PMID:16199547 PMID:17576681 PMID:18414213 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:25131622 PMID:25140959 PMID:25326635 PMID:25417161 PMID:25470043 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25590979 PMID:25609763 PMID:25635128 PMID:25640679 PMID:25700176 PMID:25741868 PMID:25817843 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26846447 PMID:27066557 PMID:27331017 PMID:27549087 PMID:27754416 PMID:28135719 PMID:28196890 PMID:28263302 PMID:28325891 PMID:28492532 PMID:28554332 PMID:28554554 PMID:28602352 PMID:28783747 PMID:29286531 PMID:29314763 PMID:29379136 PMID:29653220 PMID:29671837 PMID:30031633 PMID:30122514 PMID:30168217 PMID:30504930 PMID:30510536 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:33223419 PMID:33710394 PMID:33818783 PMID:34368388 PMID:35099838 PMID:35231114 PMID:35606327 PMID:36175372 PMID:36413997 PMID:38513047 More...
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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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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NCBI chr14:83,960,299...83,969,352
Ensembl chr14:103,773,309...103,783,403
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G |
EXOC3L4 |
exocyst complex component 3 like 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:83,716,816...83,732,656
Ensembl chr14:103,535,510...103,545,316
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G |
GPR132 |
G protein-coupled receptor 132 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,697,589...85,716,764
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G |
HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
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NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
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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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NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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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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NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
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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 |
|
NCBI chr14:84,762,903...84,807,440
Ensembl chr14:104,570,327...104,611,245
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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 |
|
NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
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G |
LOC100994669 |
cytochrome c oxidase assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230
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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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NCBI chr14:84,012,076...84,130,136
Ensembl chr14:103,823,900...103,941,529
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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 PMID:30510536 |
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NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
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G |
NUDT14 |
nudix hydrolase 14 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
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G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
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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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NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247
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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 |
|
NCBI chr14:84,359,917...84,474,892
Ensembl chr14:104,168,873...104,232,974
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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:25817843 PMID:28492532 |
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NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978
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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 PMID:30510536 |
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NCBI chr14:83,209,992...83,346,783
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G |
RD3L |
RD3 like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:84,565,729...84,567,999
Ensembl chr14:104,373,820...104,375,711
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G |
SIVA1 |
SIVA1 apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
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G |
TDRD9 |
tudor domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:84,553,807...84,677,904
Ensembl chr14:104,388,558...104,483,552
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G |
TECPR2 |
tectonin beta-propeller repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
|
NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
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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 |
|
NCBI chr14:85,241,752...85,254,473
Ensembl chr14:105,034,292...105,048,932
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G |
TNFAIP2 |
TNF alpha induced protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
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G |
TRAF3 |
TNF receptor associated factor 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
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NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670
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G |
TRMT61A |
tRNA methyltransferase 61A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:84,151,067...84,167,111
Ensembl chr14:103,966,755...103,974,697
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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 PMID:30510536 |
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NCBI chr14:82,759,715...82,843,491
Ensembl chr14:102,577,138...102,660,459
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G |
XRCC3 |
X-ray repair cross complementing 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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G |
ZBTB42 |
zinc finger and BTB domain containing 42 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
|
NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
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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 |
|
NCBI chr14:84,341,941...84,359,831
Ensembl chr14:104,161,904...104,168,787
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G |
ZNF839 |
zinc finger protein 839 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
|
NCBI chr14:82,939,031...82,962,369
Ensembl chr14:102,762,698...102,779,447
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G |
LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P |
OMIM ClinVar |
PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 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:31827005 PMID:31852984 PMID:32376792 PMID:33414056 PMID:33568173 PMID:34060689 PMID:34190362 PMID:35234685 PMID:35922214 PMID:35936615 More...
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NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
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G |
DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q |
OMIM ClinVar |
PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 PMID:28492532 PMID:29669943 More...
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NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
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G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | ClinVar Annotator: match by term: IGHMBP2-related condition |
OMIM ClinVar |
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15287252 PMID:15503272 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:25248952 PMID:25280635 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26752306 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28251916 PMID:28492532 PMID:28765793 PMID:29431110 PMID:29653221 PMID:29858556 PMID:30598237 PMID:30665247 PMID:30665423 PMID:31020813 PMID:31178897 PMID:32190976 PMID:32376792 PMID:32709422 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34602496 PMID:34986626 PMID:35936615 More...
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NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
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G |
DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
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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: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition |
OMIM ClinVar |
PMID:15464186 PMID:16199547 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 PMID:31589614 PMID:31673878 PMID:33144514 PMID:33726816 PMID:34307994 PMID:34426522 PMID:34758253 PMID:35318247 PMID:36517691 More...
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NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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G |
AGAP2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 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 chr12:31,187,821...31,201,594
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G |
APOF |
apolipoprotein F |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,552,589...32,554,943
Ensembl chr12:32,806,130...32,807,641
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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 chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
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G |
ARHGEF25 |
Rho guanine nucleotide exchange factor 25 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
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G |
ATP5F1B |
ATP synthase F1 subunit beta |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
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G |
B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
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G |
BAZ2A |
bromodomain adjacent to zinc finger domain 2A |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,274,240...32,313,839
Ensembl chr12:32,529,634...32,566,248
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G |
CDK4 |
cyclin dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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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 chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
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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 |
|
NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
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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 |
|
NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
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G |
DTX3 |
deltex E3 ubiquitin ligase 3 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,316,968...31,322,340
Ensembl chr12:31,577,001...31,579,669
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G |
EEF1AKMT3 |
EEF1A lysine methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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Ensembl chr12:31,404,783...31,415,595
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G |
GLI1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
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G |
GLS2 |
glutaminase 2 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
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G |
GPR182 |
G protein-coupled receptor 182 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806
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G |
HSD17B6 |
hydroxysteroid 17-beta dehydrogenase 6 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,117,696...32,155,740
Ensembl chr12:32,371,489...32,408,860
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G |
IL23A |
interleukin 23 subunit alpha |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
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G |
INHBC |
inhibin subunit beta C |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
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G |
INHBE |
inhibin subunit beta E |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
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G |
KIF5A |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
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G |
LOC100995452 |
nascent polypeptide associated complex subunit alpha |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510
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G |
LRP1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
|
NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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G |
MARCHF9 |
membrane associated ring-CH-type finger 9 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:28492532 |
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NCBI chr12:31,167,057...31,174,930
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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 PMID:36413997 More...
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NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
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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 chr12:31,396,733...31,404,126
Ensembl chr12:31,655,461...31,664,638
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METTL1 |
methyltransferase 1, tRNA methylguanosine |
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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 chr12:31,154,374...31,158,175
Ensembl chr12:31,414,941...31,418,588
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MIP |
major intrinsic protein of lens fiber |
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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 chr12:32,459,965...32,465,465
Ensembl chr12:32,713,470...32,718,026
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G |
MYO1A |
myosin IA |
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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 chr12:31,875,570...31,899,279
Ensembl chr12:32,130,708...32,152,335
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G |
NAB2 |
NGFI-A binding protein 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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Ensembl chr12:32,085,031...32,091,498
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G |
NDUFA4L2 |
NDUFA4 mitochondrial complex associated like 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 chr12:31,686,325...31,692,483
Ensembl chr12:31,940,681...31,944,813
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G |
NEMP1 |
nuclear envelope integral membrane protein 1 |
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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 chr12:31,849,235...31,872,130
Ensembl chr12:32,102,141...32,125,141
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G |
NXPH4 |
neurexophilin 4 |
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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 chr12:31,700,935...31,710,526
Ensembl chr12:31,953,259...31,962,757
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OS9 |
OS9 endoplasmic reticulum lectin |
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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 chr12:31,205,239...31,232,769
Ensembl chr12:31,463,716...31,493,076
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G |
PAN2 |
poly(A) specific ribonuclease subunit PAN2 |
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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 chr12:32,581,728...32,598,445
Ensembl chr12:32,835,235...32,853,645
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G |
PIP4K2C |
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
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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 chr12:31,323,346...31,335,626
Ensembl chr12:31,584,534...31,594,808
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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 PMID:37091313 More...
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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PRIM1 |
DNA primase subunit 1 |
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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 chr12:32,155,541...32,176,363
Ensembl chr12:32,408,929...32,428,734
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G |
PTGES3 |
prostaglandin E synthase 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 chr12:32,221,908...32,247,228
Ensembl chr12:32,476,835...32,503,181
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G |
R3HDM2 |
R3H domain containing 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 chr12:31,494,789...31,672,343
Ensembl chr12:31,868,368...31,923,910
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G |
RBMS2 |
RNA binding motif single stranded interacting protein 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 chr12:32,295,878...32,390,287
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RDH16 |
retinol dehydrogenase 16 |
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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 chr12:31,958,385...31,966,319
Ensembl chr12:32,212,746...32,219,624
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G |
SDR9C7 |
short chain dehydrogenase/reductase family 9C member 7 |
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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 chr12:31,983,412...31,994,584
Ensembl chr12:32,236,402...32,247,688
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G |
SHMT2 |
serine hydroxymethyltransferase 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 chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
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G |
SPRYD4 |
SPRY domain containing 4 |
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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 chr12:32,443,657...32,446,127
Ensembl chr12:32,696,670...32,699,160
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G |
STAC3 |
SH3 and cysteine rich domain 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 chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251
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G |
STAT2 |
signal transducer and activator of transcription 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 chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
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G |
STAT6 |
signal transducer and activator of transcription 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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Ensembl chr12:32,068,679...32,085,099
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G |
TAC3 |
tachykinin precursor 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 chr12:31,911,231...31,917,786
Ensembl chr12:32,164,278...32,170,834
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TIMELESS |
timeless circadian regulator |
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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 chr12:32,465,529...32,497,581
Ensembl chr12:32,718,649...32,750,728
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G |
TSFM |
Ts translation elongation factor, mitochondrial |
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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 chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595 Ensembl chr12:31,404,783...31,415,595
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G |
TSPAN31 |
tetraspanin 31 |
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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 chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
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ZBTB39 |
zinc finger and BTB domain containing 39 |
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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 chr12:31,921,227...31,928,944
Ensembl chr12:32,176,096...32,178,234
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NAGLU |
N-acetyl-alpha-glucosaminidase |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V |
OMIM ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11153910 PMID:11286389 PMID:11668611 PMID:12202988 PMID:14984474 PMID:18218046 PMID:20852935 PMID:21204211 PMID:21937992 PMID:22976768 PMID:23380547 PMID:23667853 PMID:25520920 PMID:25525159 PMID:25741868 PMID:25818867 PMID:26907177 PMID:27243974 PMID:27590925 PMID:28492532 PMID:28751108 PMID:28844463 PMID:29269699 PMID:29661560 PMID:29979746 PMID:30070758 PMID:30809705 PMID:31413257 PMID:31536183 PMID:31969655 PMID:32883051 PMID:33083013 PMID:33747789 PMID:34396902 PMID:37091313 More...
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NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
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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:18361476 PMID:18408091 PMID:18586399 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:23121729 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24090761 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26374131 PMID:26467025 PMID:26556829 PMID:26742954 PMID:27071356 PMID:27217339 PMID:27544499 PMID:27790088 PMID:27900367 PMID:27957547 PMID:28119845 PMID:28132690 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:29246610 PMID:29525178 PMID:29691679 PMID:29908077 PMID:29980238 PMID:30363882 PMID:30373780 PMID:30574063 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31589614 PMID:31692161 PMID:32005694 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32383541 PMID:32397312 PMID:32483926 PMID:32987860 PMID:32989326 PMID:33059505 PMID:33098801 PMID:33397523 PMID:33414559 PMID:33589474 PMID:33866115 PMID:34153142 PMID:34445196 PMID:35012964 PMID:35254204 PMID:35572931 PMID:35628876 PMID:35752680 PMID:35906604 PMID:36028943 PMID:36139378 PMID:37223130 More...
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NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
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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: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:29858556 PMID:30624633 PMID:31211173 PMID:31475037 PMID:31618753 PMID:31785789 PMID:32693025 PMID:33844363 PMID:34059105 PMID:34189813 PMID:37091313 PMID:37337996 PMID:37712079 PMID:38227798 More...
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NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632
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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 chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
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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 |
ClinVar OMIM |
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 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577 Ensembl chr 1:10,198,997...10,364,577
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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 PMID:37712079 More...
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NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
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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:30842647 PMID:32303640 PMID:32695416 PMID:32768327 PMID:37091313 More...
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NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
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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 Annotator: match by term: HMSN IIA2 |
ClinVar |
PMID:8406488 PMID:9409358 PMID:9536098 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:17215402 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17576681 PMID:17959936 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID: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: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:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID: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:26764160 PMID:26801520 PMID:26955893 PMID:26956144 PMID:26968460 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27100445 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27859025 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:31127728 PMID:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31315766 PMID:31372974 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32483926 PMID:32522799 PMID:32657593 PMID:32963807 PMID:33333791 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34232518 PMID:34354735 PMID:34366782 PMID:34426522 PMID:34721278 PMID:35418194 PMID:35449525 PMID:35936615 PMID:35938991 PMID:37091313 PMID:37712079 PMID:37797217 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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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:30842647 PMID:32303640 PMID:32695416 PMID:32768327 PMID:37091313 More...
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NCBI chr10:12,073,324...12,130,589
Ensembl chr10:12,054,060...12,108,387
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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:9536098 PMID:10732809 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215402 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:17444508 PMID:17576681 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:24450158 PMID:24473995 PMID:24604904 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 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:26764160 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:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31372974 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32483926 PMID:32657593 PMID:33333791 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34354735 PMID:34366782 PMID:34426522 PMID:35418194 PMID:35449525 PMID:35936615 PMID:35938991 PMID:37091313 PMID:37712079 PMID:37797217 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
MFN2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency |
OMIM ClinVar |
PMID:8406488 PMID:9409358 PMID:9536098 PMID:12527753 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16199547 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17437620 PMID:17576681 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:24078732 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25614874 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26316991 PMID:26382835 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26686600 PMID:26801520 PMID:26955893 PMID:27549087 PMID:27863451 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:31130284 PMID:31186069 PMID:31188717 PMID:31640251 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32214227 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:35936615 PMID:35938991 PMID:36229071 PMID:37091313 PMID:37797217 More...
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|
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
ACAD9 |
acyl-CoA dehydrogenase family member 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883
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|
G |
CFAP92 |
cilia and flagella associated protein 92 (putative) |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,971,881...126,061,778
|
|
G |
RAB7A |
RAB7A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy | 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 chr 3:125,784,604...125,873,051
|
|
G |
SCN10A |
sodium voltage-gated channel alpha subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
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|
G |
SEPTIN9 |
septin 9 |
|
ISO |
ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy |
ClinVar |
|
|
NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586
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|
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G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 |
OMIM ClinVar |
PMID:262236 PMID:2007407 PMID:2338570 PMID: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: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:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 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:15678000 PMID:15744034 PMID:15770669 PMID:15965218 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:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 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:19446900 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:21945321 PMID:21980471 PMID:21989830 PMID:22068161 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:24459210 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24915601 PMID:24943589 PMID:25025039 PMID:25214167 PMID:25351510 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 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:26743238 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:27600705 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:28518168 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:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31410651 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32461654 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33070394 PMID:33258288 PMID:33304817 PMID:33407844 PMID:33500567 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33824984 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34363016 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34954454 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35291351 PMID:35387801 PMID:35434999 PMID:35449878 PMID:35526016 PMID:35533453 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36352512 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36971006 PMID:37246508 PMID:37652022 PMID:37679847 PMID:38048861 More...
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
MED25 |
mediator complex subunit 25 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 |
ClinVar |
PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:37091313 More...
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NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 |
OMIM ClinVar |
PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 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:32123317 PMID:33654647 PMID:34009545 PMID:34697416 PMID:37301908 More...
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NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D |
OMIM ClinVar |
PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 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:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:31173493 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32028661 PMID:32181591 PMID:32376792 PMID:32403337 PMID:32909314 PMID:34813128 PMID:36738734 PMID:37091313 More...
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NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: ATP1A1-related condition | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD |
OMIM ClinVar |
PMID:7977350 PMID:8526465 PMID:8981948 PMID:9536098 PMID:17576681 PMID:21208200 PMID:21494555 PMID:25741868 PMID:28492532 PMID:28714951 PMID:29499166 PMID:30388404 PMID:31332282 PMID:31705535 PMID:31707753 PMID:31785789 PMID:37712079 More...
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NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
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G |
CDCA2 |
cell division cycle associated 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
|
NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584
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G |
DOCK5 |
dedicator of cytokinesis 5 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
|
NCBI chr 8:24,463,582...24,696,736
Ensembl chr 8:21,372,756...21,605,877
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G |
EBF2 |
EBF transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
|
NCBI chr 8:25,119,782...25,325,305
Ensembl chr 8:22,027,573...22,231,421 Ensembl chr 8:22,027,573...22,231,421
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G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
|
NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936
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G |
KCTD9 |
potassium channel tetramerization domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:19158810 PMID:20039262 PMID:28492532 |
|
NCBI chr 8:24,708,896...24,739,197
Ensembl chr 8:21,618,042...21,648,309
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G |
NEFL |
neurofilament light chain |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E |
OMIM ClinVar |
PMID:2288874 PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 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 chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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G |
PMP22 |
peripheral myelin protein 22 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E |
ClinVar |
PMID:9040737 PMID:9371959 PMID:9712007 PMID:20301384 PMID:21252112 PMID:21692910 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 More...
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NCBI chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
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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:1852208 PMID:25741868 PMID:28492532 |
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NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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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 | ClinVar Annotator: match by term: MPV17-related condition |
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: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 PMID:37712079 More...
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NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090
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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 chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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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 chr2A:27,281,950...27,309,495
Ensembl chr2A:27,370,903...27,397,214
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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 Annotator: match by term: MPV17-related condition |
ClinVar |
PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599 |
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NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669
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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:8990016 PMID:9187667 PMID:9452091 PMID:9595994 PMID:9633821 PMID:10071056 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10475757 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11437164 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:20301384 PMID:20385006 PMID:20456450 PMID:20461396 PMID:20556410 PMID:21149811 PMID:21840889 PMID:22433810 PMID:24053775 PMID:24444136 PMID:24819634 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:33825325 PMID:34008892 PMID:34210210 PMID:36350884 PMID:37091313 More...
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NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
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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 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736
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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:24819634 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29465609 PMID:29687021 PMID:31211173 PMID:31827005 PMID:33179255 PMID:33825325 PMID:34210210 PMID:36350884 More...
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NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
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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 4:145,494,088...145,681,287
Ensembl chr 4:157,194,729...157,500,723
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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 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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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:24354524 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 PMID:28492532 PMID:29235198 PMID:29790872 PMID:32333447 PMID:32543048 PMID:32940403 PMID:33210134 More...
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NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
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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:26686600 PMID:28251916 PMID:28414270 PMID:28492532 PMID:29358271 PMID:30158064 PMID:33415332 PMID:33502018 PMID:37091313 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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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 chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
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