RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Charcot-Marie-Tooth disease |
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Accession: | DOID:10595
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browse the term
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Definition: | A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO) |
Synonyms: | exact_synonym: | CMT - Charcot-Marie-Tooth disease; Charcot Marie Tooth hereditary neuropathy; Charcot Marie Tooth muscular atrophy; Charcot Marie Tooth syndrome; Charcot Marie disease; Roussy Levy disease; Roussy Levy hereditary areflexic dystasia; Roussy Levy syndrome; hereditary areflexic dystasia; hereditary areflexic dystasias; peroneal muscular atrophies; peroneal muscular atrophy |
| primary_id: | MESH:D002607 |
| alt_id: | MIM:180800 |
| xref: | EFO:0004148; GARD:6034; ICD9CM:356.1; MIM:PS118220; MONDO:0015626; NCI:C75467 |
For additional species annotation, visit the
Alliance of Genome Resources.
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AARS1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20045102 PMID:21208200 PMID:21494555 PMID:22009580 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25025039 PMID:25741868 PMID:25783436 PMID:25817015 PMID:25904691 PMID:26032230 PMID:26257172 PMID:26752306 PMID:27549087 PMID:28492532 PMID:29653220 PMID:30124830 PMID:32314272 PMID:32376792 PMID:32403337 PMID:33294374 PMID:33753480 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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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
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ARF1 |
ARF GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:12566280 PMID:24078732 |
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NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105
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ARHGEF10 |
Rho guanine nucleotide exchange factor 10 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:10319589 PMID:24627108 PMID:25025039 PMID:25164601 PMID:25741868 PMID:26558264 PMID:28492532 More...
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NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
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ATL1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:21194679 PMID:25741868 |
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NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
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ATP7A |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 PMID:28492532 More...
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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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BICD2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25802885 PMID:28492532 |
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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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BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:23142943 PMID:23989774 PMID:24451228 PMID:24604904 PMID:25487175 PMID:25741868 PMID:26467025 PMID:26815532 PMID:27549087 PMID:28492532 PMID:31369919 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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CNTNAP2 |
contactin associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25648254 |
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NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
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CTDP1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 PMID:24690360 PMID:28492532 PMID:29174527 More...
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NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573
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DCTN1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15326253 PMID:18812314 PMID:19506225 PMID:23143281 PMID:24604904 PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 More...
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NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
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DCTN2 |
dynactin subunit 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:26517670 |
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NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
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DHX9 |
DExH-box helicase 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 |
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NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833
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DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 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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DNM2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15731758 PMID:16227997 PMID:17636067 PMID:18394888 PMID:18414213 PMID:20529869 PMID:20817456 PMID:21762456 PMID:22091729 PMID:22396310 PMID:22613877 PMID:24016602 PMID:25025039 PMID:25492887 PMID:25501959 PMID:25741868 PMID:27328317 PMID:28492532 PMID:28676641 PMID:34768808 More...
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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DNMT1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:7898717 PMID:10210919 PMID:21532572 PMID:23365052 PMID:23521649 PMID:24727570 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 More...
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NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DRP2 |
dystrophin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:90,422,483...90,467,610
Ensembl chr X:100,558,208...100,603,233
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DST |
dystonin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:28492532 |
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NCBI chr 6:56,014,832...56,513,346
Ensembl chr 6:57,646,402...58,039,636
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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 | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21820100 PMID:22847149 PMID:24033266 PMID:24136616 PMID:25025039 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29379136 PMID:30122514 PMID:30504930 PMID:34374989 PMID:37273706 PMID:37470033 PMID:38374194 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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EGR2 |
early growth response 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:11734543 PMID:12471219 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20301384 PMID:20513111 PMID:21149811 PMID:22271166 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27422849 PMID:28492532 PMID:30843326 PMID:31673878 PMID:31919945 PMID:32376792 PMID:32896048 PMID:34169998 More...
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NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846
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ELP1 |
elongator acetyltransferase complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 PMID:12687659 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18091349 PMID:18197058 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29290691 PMID:29762696 More...
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NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
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FBXO38 |
F-box protein 38 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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FGD4 |
FYVE, RhoGEF and PH domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15744041 PMID:17564959 PMID:17564972 PMID:19332693 PMID:20301641 PMID:22734899 PMID:23466821 PMID:23550889 PMID:24078732 PMID:25231362 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27231023 PMID:28492532 PMID:32376792 More...
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NCBI chr12:53,574,573...53,822,971
Ensembl chr12:56,181,565...56,421,810
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:19118816 PMID:21705420 PMID:23336365 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25614874 PMID:25741868 PMID:26467025 PMID:28051077 PMID:28492532 PMID:28859335 PMID:29518270 PMID:30740813 PMID:31313076 PMID:32385536 PMID:33424531 PMID:36133075 More...
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NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
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GAN |
gigaxonin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:24627108 PMID:25025039 PMID:25741868 PMID:28492532 |
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NCBI chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:8541851 PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 PMID:16014653 PMID:16199547 PMID:16534118 PMID:17035524 PMID:17101916 PMID:17544401 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:25168514 PMID:25420567 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26244500 PMID:26467025 PMID:26503042 PMID:26517670 PMID:26633545 PMID:26752306 PMID:27008886 PMID:27582484 PMID:27862672 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29858556 PMID:30643024 PMID:31591847 PMID:31827005 PMID:31832804 PMID:31985473 PMID:35304488 PMID:36738734 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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GDAP1 |
ganglioside induced differentiation associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:257 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15772096 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:16343542 PMID:17001820 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18062449 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19340293 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21322820 PMID:21326314 PMID:21519004 PMID:21692914 PMID:21753178 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22730194 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25168384 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28379183 PMID:28492532 PMID:28495047 PMID:28673555 PMID:28751717 PMID:29372391 PMID:29858556 PMID:31069529 PMID:31211173 PMID:31589614 PMID:31655048 PMID:31673878 PMID:32183277 PMID:32376792 PMID:33136338 PMID:33187793 PMID:33477664 PMID:33480199 PMID:34057104 PMID:34366782 PMID:35662277 PMID:36140714 PMID:36801589 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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GJB1 |
gap junction protein beta 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:1211842 PMID:2987105 PMID:7477983 PMID:7580242 PMID:7833935 PMID:7946361 PMID:8004109 PMID:8162049 PMID:8266101 PMID:8304339 PMID:8628473 PMID:8698335 PMID:8737658 PMID:8757034 PMID:8800924 PMID:8816997 PMID:8829637 PMID:8990008 PMID:9018031 PMID:9099841 PMID:9187667 PMID:9272161 PMID:9328258 PMID:9354338 PMID:9361298 PMID:9364054 PMID:9401007 PMID:9452025 PMID:9452099 PMID:9469569 PMID:9469571 PMID:9541114 PMID:9566397 PMID:9592087 PMID:9600589 PMID:9633821 PMID:9818870 PMID:9854984 PMID:9856562 PMID:9888385 PMID:10071100 PMID:10093067 PMID:10102421 PMID:10207904 PMID:10220155 PMID:10234007 PMID:10400511 PMID:10487913 PMID:10521546 PMID:10586227 PMID:10586261 PMID:10586279 PMID:10586284 PMID:10586291 PMID:10587015 PMID:10639608 PMID:10646523 PMID:10671058 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10894999 PMID:10923043 PMID:10931843 PMID:10938190 PMID:11030070 PMID:11085599 PMID:11140841 PMID:11180613 PMID:11252295 PMID:11257785 PMID:11266688 PMID:11271367 PMID:11325342 PMID:11393532 PMID:11404117 PMID:11437164 PMID:11438991 PMID:11545686 PMID:11562788 PMID:11571214 PMID:11723288 PMID:11835375 PMID:11891346 PMID:12111842 PMID:12185164 PMID:12207932 PMID:12325071 PMID:12362307 PMID:12402337 PMID:12457340 PMID:12460545 PMID:12477701 PMID:12497641 PMID:12536289 PMID:12542510 PMID:12614935 PMID:12707076 PMID:14607795 PMID:14627639 PMID:14663027 PMID:14663144 PMID:14680548 PMID:14960772 PMID:14991359 PMID:15006706 PMID:15241803 PMID:15468313 PMID:15574129 PMID:15719046 PMID:15852376 PMID:16079393 PMID:16096811 PMID:16401743 PMID:16476939 PMID:16688595 PMID:16912585 PMID:16922730 PMID:17100997 PMID:17297706 PMID:17353473 PMID:17620124 PMID:17646144 PMID:17714866 PMID:18254389 PMID:18358413 PMID:18379723 PMID:18380022 PMID:18380028 PMID:18636082 PMID:18714809 PMID:18717720 PMID:18846639 PMID:19058222 PMID:19062535 PMID:19259128 PMID:19297523 PMID:19335535 PMID:19369543 PMID:19448103 PMID:19468074 PMID:19691535 PMID:20039784 PMID:20128140 PMID:20193560 PMID:20301548 PMID:20435583 PMID:20491857 PMID:20593665 PMID:20730878 PMID:20857133 PMID:20942588 PMID:21104867 PMID:21149811 PMID:21254193 PMID:21280457 PMID:21282593 PMID:21291455 PMID:21300330 PMID:21309765 PMID:21326314 PMID:21607969 PMID:21692908 PMID:21918739 PMID:21922480 PMID:22159091 PMID:22243284 PMID:22464564 PMID:22465464 PMID:22718765 PMID:22771394 PMID:22820753 PMID:22944031 PMID:23011429 PMID:23106488 PMID:23209285 PMID:23232577 PMID:23279342 PMID:23384994 PMID:23649551 PMID:23773993 PMID:23827825 PMID:23838279 PMID:23871722 PMID:24053775 PMID:24078732 PMID:24170412 PMID:24327141 PMID:24444136 PMID:24627108 PMID:24768312 PMID:24958582 PMID:25025039 PMID:25043634 PMID:25086786 PMID:25388846 PMID:25429913 PMID:25595958 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25883816 PMID:25947624 PMID:25969535 PMID:26274329 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26542351 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27098243 PMID:27098783 PMID:27228968 PMID:27234031 PMID:27367520 PMID:27544631 PMID:27549087 PMID:27804109 PMID:27812541 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28283593 PMID:28286897 PMID:28334782 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 PMID:29086968 PMID:29095325 PMID:29245364 PMID:29462293 PMID:29629536 PMID:29998508 PMID:30042657 PMID:30196252 PMID:30340945 PMID:30373780 PMID:30737405 PMID:31119804 PMID:31211173 PMID:31220874 PMID:31323543 PMID:31372974 PMID:31673878 PMID:31827005 PMID:31842800 PMID:31920494 PMID:31948496 PMID:32010055 PMID:32022442 PMID:32376792 PMID:32399692 PMID:32657593 PMID:32903794 PMID:33105617 PMID:33136338 PMID:33314704 PMID:34089394 PMID:34190362 PMID:34326750 PMID:35383424 PMID:37284795 PMID:37712079 PMID:224645664 More...
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NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961
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G |
GNB4 |
G protein subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 |
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NCBI chr 3:176,428,475...176,483,905
Ensembl chr 3:184,601,229...184,630,913
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G |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:24314034 |
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NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
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G |
HARS1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
HINT1 |
histidine triad nucleotide binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:22961002 PMID:24105373 PMID:25342199 PMID:25741868 PMID:28492532 PMID:29787766 PMID:31673878 More...
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NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823
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G |
HOXD10 |
homeobox D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146389 |
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NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:2814495 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 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: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:26077850 PMID:26141737 PMID:26467025 PMID:26675522 PMID:26752306 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:27862672 PMID:28000086 PMID:28077174 PMID:28105056 PMID:28106320 PMID:28144995 PMID:28166811 PMID:28379183 PMID:28492532 PMID:28518168 PMID:28595321 PMID:28702508 PMID:28797631 PMID:29381233 PMID:29547183 PMID:30373780 PMID:30758704 PMID:31069529 PMID:31453292 PMID:31573509 PMID:31630804 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:32461654 PMID:32528171 PMID:33686258 PMID:33943041 PMID:35328016 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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G |
HSPB8 |
heat shock protein family B (small) member 8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15021985 PMID:15122253 PMID:15565283 PMID:20157854 PMID:20538880 PMID:20858900 PMID:21985219 PMID:23389032 PMID:23796487 PMID:25206829 PMID:26467025 PMID:28492532 PMID:28747872 PMID:28780615 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 |
IFRD1 |
interferon related developmental regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:19409521 |
|
NCBI chr 7:104,412,763...104,438,490
Ensembl chr 7:117,115,187...117,141,887
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|
G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15287252 PMID:15599641 PMID:15797190 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:24022109 PMID:24033266 PMID:24088041 PMID:25248952 PMID:25326635 PMID:25439726 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25741868 PMID:25741915 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27727376 PMID:28251916 PMID:28492532 PMID:28765793 PMID:29431110 PMID:29761130 PMID:29858556 PMID:30598237 PMID:30863264 PMID:32376792 PMID:32573669 PMID:32709422 PMID:33258288 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 |
INF2 |
inverted formin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:20023659 PMID:20803156 PMID:21258034 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23515051 PMID:23521651 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25943269 PMID:26086034 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:28492532 PMID:28780565 PMID:31515790 PMID:31937884 PMID:32444357 PMID:32451589 PMID:32604935 PMID:36637069 More...
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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 |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:20920668 PMID:28492532 |
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NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
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G |
KIF1B |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25025039 PMID:25741868 PMID:25802885 PMID:28492532 PMID:29590070 PMID:30126838 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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G |
LAMA2 |
laminin subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25648254 |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
LITAF |
lipopolysaccharide induced TNF factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:1407588 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16373087 PMID:16787513 PMID:19541485 PMID:20301384 PMID:20709679 PMID:21896645 PMID:21918739 PMID:22765307 PMID:23166352 PMID:23319192 PMID:23576546 PMID:24604904 PMID:24844793 PMID:24880540 PMID:25058650 PMID:25245565 PMID:25342198 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27549087 PMID:27927196 PMID:28164329 PMID:28211240 PMID:28492532 PMID:32376792 PMID:32399692 PMID:32665875 PMID:37868241 PMID:39140136 More...
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NCBI chr16:10,488,738...10,527,843
Ensembl chr16:11,714,325...11,750,521
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|
G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:2526018 PMID:2733290 PMID:8621584 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11180602 PMID:11342468 PMID:11344241 PMID:11503164 PMID:12057196 PMID:12075506 PMID:12376891 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12669268 PMID:12702809 PMID:12788894 PMID:12920062 PMID:14510863 PMID:14597414 PMID:14627682 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15843404 PMID:15965218 PMID:15998779 PMID:16046620 PMID:16084085 PMID:16181372 PMID:16364671 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16809772 PMID:17107595 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17334235 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17848409 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18585512 PMID:18604166 PMID:18714801 PMID:18795223 PMID:18796515 PMID:18808171 PMID:18926329 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20497714 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:21400569 PMID:21462202 PMID:21465660 PMID:21479595 PMID:21520333 PMID:21535365 PMID:21831885 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22071332 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22761994 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23349452 PMID:23427149 PMID:23702046 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24794538 PMID:24861648 PMID:25025039 PMID:25049529 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26724531 PMID:26756202 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27650965 PMID:27723096 PMID:27841901 PMID:27841971 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28087566 PMID:28349240 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29078011 PMID:29237675 PMID:29438482 PMID:29551499 PMID:29557732 PMID:29693488 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30287275 PMID:30402260 PMID:30420677 PMID:30488537 PMID:30564623 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31303467 PMID:31383942 PMID:31428229 PMID:31447099 PMID:31514951 PMID:31521807 PMID:31744510 PMID:32041611 PMID:32376792 PMID:32413188 PMID:32456328 PMID:32461654 PMID:32698523 PMID:32793522 PMID:32818388 PMID:32880476 PMID:33038109 PMID:33407844 PMID:33422685 PMID:33458588 PMID:34135346 PMID:34240052 PMID:34363016 PMID:34461741 PMID:34495297 PMID:34680903 PMID:34768595 PMID:34862408 PMID:34975533 PMID:35470680 PMID:35526016 PMID:35898701 PMID:36293084 PMID:36397776 PMID:36971006 PMID:37904629 PMID:38247853 PMID:38489124 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 |
LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25741868 PMID:26752306 PMID:28286897 PMID:28335037 PMID:28492532 PMID:29341362 PMID:29417091 PMID:29845787 PMID:31211173 PMID:31827005 PMID:32376792 PMID:33414056 PMID:33568173 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 |
MARS1 |
methionyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:23729695 PMID:24103465 PMID:25741868 PMID:25913036 PMID:28492532 PMID:29655802 PMID:31356216 PMID:32376792 PMID:34585293 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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G |
MED25 |
mediator complex subunit 25 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25488817 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 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 |
MFN2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:8406488 PMID:9409358 PMID:9536098 PMID:10732809 PMID:11148244 PMID:12601114 PMID:15064763 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:17502546 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:19909486 PMID:20008656 PMID:20193559 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21601224 PMID:21707411 PMID:21715711 PMID:21735565 PMID:21772703 PMID:21840889 PMID:21892769 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22494076 PMID:22653593 PMID:22762946 PMID:22851605 PMID:22926664 PMID:22957060 PMID:23456260 PMID:23615052 PMID:23733358 PMID:23781337 PMID:23806086 PMID:23929728 PMID:24033266 PMID:24050734 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24126688 PMID:24444136 PMID:24450158 PMID:24473995 PMID:24487800 PMID:24530046 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25412673 PMID:25448007 PMID:25497598 PMID:25614874 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:26378787 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26581383 PMID:26633542 PMID:26633545 PMID:26686600 PMID:26752306 PMID:26764160 PMID:26801520 PMID:26916081 PMID:26930221 PMID:26955893 PMID:26968897 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27553710 PMID:27582484 PMID:27706887 PMID:27862672 PMID:27863451 PMID:27884173 PMID:28063088 PMID:28166811 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28292286 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29068134 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29625556 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30011089 PMID:30158064 PMID:30340945 PMID:30373780 PMID:30442897 PMID:30649465 PMID:30659145 PMID:30807887 PMID:30882371 PMID:31127728 PMID:31130284 PMID:31186069 PMID:31188717 PMID:31211173 PMID:31372974 PMID:31407473 PMID:31453851 PMID:31640251 PMID:31664033 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32376792 PMID:32399692 PMID:32483926 PMID:32522799 PMID:32963807 PMID:33333791 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33578441 PMID:33841295 PMID:34060689 PMID:34103343 PMID:34232518 PMID:34354735 PMID:34366782 PMID:34426522 PMID:34721278 PMID:35418194 PMID:35449525 PMID:35922214 PMID:35938991 PMID:36790232 PMID:36973604 PMID:37091313 PMID:37712079 PMID:37910431 PMID:37926714 PMID:37927275 PMID:38124143 PMID:198122151 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 |
MME |
membrane metalloendopeptidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35212467 |
|
NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31211173 PMID:32693025 PMID:33844363 PMID:34059105 PMID:34189813 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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|
G |
MPZ |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy |
OMIM ClinVar |
PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 PMID:7530550 PMID:7530774 PMID:7550231 PMID:7581451 PMID:7688964 PMID:7693129 PMID:7693130 PMID:7694726 PMID:8644725 PMID:8664899 PMID:8797476 PMID:8800924 PMID:8816708 PMID:8835320 PMID:8844219 PMID:8990016 PMID:9187667 PMID:9217235 PMID:9452091 PMID:9452099 PMID:9536098 PMID:9588852 PMID:9595994 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10093067 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10406984 PMID:10463363 PMID:10475757 PMID:10533074 PMID:10545037 PMID:10553995 PMID:10581375 PMID:10737979 PMID:10764043 PMID:10835936 PMID:10885340 PMID:10923043 PMID:10965800 PMID:11080236 PMID:11080237 PMID:11085599 PMID:11160475 PMID:11437164 PMID:11484669 PMID:11545686 PMID:11673479 PMID:11701152 PMID:11801400 PMID:11835375 PMID:11935267 PMID:12090401 PMID:12207153 PMID:12207932 PMID:12221176 PMID:12242557 PMID:12402337 PMID:12477701 PMID:12497641 PMID:12707985 PMID:12805115 PMID:12807974 PMID:12845552 PMID:12911457 PMID:12940837 PMID:12948789 PMID:12953275 PMID:14638973 PMID:14711881 PMID:14742601 PMID:14871447 PMID:15004559 PMID:15036333 PMID:15050444 PMID:15094849 PMID:15159512 PMID:15170620 PMID:15241803 PMID:15261887 PMID:15377707 PMID:15555916 PMID:15642860 PMID:15716547 PMID:15729519 PMID:16198109 PMID:16199547 PMID:16252242 PMID:16279991 PMID:16488608 PMID:16495463 PMID:16521307 PMID:16543539 PMID:16616845 PMID:16616847 PMID:16775239 PMID:16844954 PMID:16856127 PMID:16987171 PMID:17030746 PMID:17143884 PMID:17294201 PMID:17297707 PMID:17468193 PMID:17576681 PMID:17602703 PMID:17663472 PMID:17915947 PMID:17940173 PMID:18209201 PMID:18255032 PMID:18337304 PMID:18347322 PMID:18380018 PMID:18380021 PMID:18380030 PMID:18422810 PMID:18636082 PMID:18663734 PMID:19259128 PMID:19293842 PMID:19454582 PMID:19475438 PMID:19629567 PMID:19691535 PMID:19882637 PMID:19918771 PMID:19928689 PMID:20215982 PMID:20301384 PMID:20385006 PMID:20456450 PMID:20461396 PMID:20516806 PMID:20544920 PMID:20556410 PMID:20571287 PMID:20621479 PMID:20800346 PMID:20937820 PMID:21107784 PMID:21149811 PMID:21256749 PMID:21326314 PMID:21503568 PMID:21840889 PMID:21940171 PMID:22018721 PMID:22176150 PMID:22222859 PMID:22433810 PMID:22451207 PMID:22622165 PMID:22704856 PMID:22734905 PMID:23197742 PMID:23279346 PMID:23290023 PMID:23342407 PMID:23649551 PMID:23806086 PMID:24028194 PMID:24033266 PMID:24053775 PMID:24078732 PMID:24088041 PMID:24444136 PMID:24819634 PMID:25025039 PMID:25388615 PMID:25429913 PMID:25430934 PMID:25448007 PMID:25614874 PMID:25694466 PMID:25720167 PMID:25741868 PMID:26135405 PMID:26234237 PMID:26257172 PMID:26310628 PMID:26392352 PMID:26406915 PMID:26454100 PMID:26467025 PMID:26989944 PMID:27088055 PMID:27527004 PMID:27614573 PMID:27639257 PMID:28286897 PMID:28492532 PMID:28902413 PMID:29136549 PMID:29465609 PMID:29687021 PMID:30239779 PMID:30677751 PMID:30920665 PMID:31173589 PMID:31211173 PMID:31372974 PMID:31827005 PMID:31902012 PMID:31919945 PMID:32298515 PMID:32376792 PMID:32399692 PMID:33179255 PMID:33825325 PMID:34008892 PMID:34060689 PMID:34210210 PMID:34232518 PMID:34925207 PMID:35562614 PMID:36203352 PMID:36350884 PMID:37091313 PMID:37581289 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 |
MTMR2 |
myotubularin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:10802647 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 PMID:14530412 PMID:15469949 PMID:15505184 PMID:17973976 PMID:20981092 PMID:23781969 PMID:25025039 PMID:25231362 PMID:25741868 PMID:26467025 PMID:27582484 PMID:28492532 PMID:29590070 PMID:32376792 More...
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NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 |
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NCBI chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
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G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:10094189 PMID:15933803 PMID:23430803 PMID:25741868 PMID:28492532 PMID:30903511 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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G |
NDRG1 |
N-myc downstream regulated 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9536098 PMID:12872253 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32376792 More...
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NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:11220745 PMID:12477167 PMID:12566280 PMID:14733962 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17620486 PMID:17881652 PMID:19158810 PMID:19458545 PMID:20039262 PMID:20301384 PMID:21149811 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22765307 PMID:23618875 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25614874 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:30373780 PMID:31574566 PMID:31788662 PMID:32376792 PMID:33201363 PMID:35274844 PMID:36809754 PMID:37848414 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 |
NGF |
nerve growth factor |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:20978020 PMID:22302274 PMID:28492532 |
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NCBI chr 1:87,223,597...87,276,759
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G |
NRG1 |
neuregulin 1 |
treatment |
ISO |
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RGD |
PMID:25150498 |
RGD:10449027 |
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:77656 PMID:3472625 PMID:10330344 PMID:10982191 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:12210794 PMID:12949319 PMID:15534759 PMID:16199547 PMID:16373086 PMID:18077166 PMID:18322713 PMID:18657423 PMID:21708027 PMID:22032467 PMID:22302274 PMID:22957891 PMID:23112235 PMID:24154508 PMID:24631696 PMID:25741868 PMID:27058611 PMID:27265460 PMID:27551041 PMID:27676246 PMID:27698470 PMID:28492532 PMID:28940190 PMID:28981924 PMID:29770739 PMID:32219930 PMID:32707200 PMID:32707409 PMID:33235206 More...
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Ensembl chr 1:136,007,476...136,047,355
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
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RGD |
PMID:20553714 |
RGD:5684901 |
NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
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G |
PDK3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:17,062,278...17,147,489
Ensembl chr X:24,430,028...24,504,730
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G |
PLD3 |
phospholipase D family member 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 PMID:25741868 PMID:26059842 PMID:28492532 PMID:32376792 More...
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NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343
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G |
PMP22 |
peripheral myelin protein 22 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
OMIM ClinVar |
PMID:475348 PMID:1301995 PMID:1349106 PMID:1552536 PMID:1552545 PMID:1677316 PMID:1721895 PMID:1822787 PMID:3467805 PMID:7649472 PMID:7728152 PMID:8012365 PMID:8012388 PMID:8105684 PMID:8252046 PMID:8500795 PMID:8615087 PMID:8777804 PMID:8988161 PMID:9040737 PMID:9040744 PMID:9187667 PMID:9324088 PMID:9371959 PMID:9452099 PMID:9536098 PMID:9543325 PMID:9585367 PMID:9712007 PMID:9748013 PMID:10078969 PMID:10093067 PMID:10211478 PMID:10330345 PMID:10586280 PMID:10632107 PMID:10737979 PMID:10775544 PMID:11081809 PMID:11140841 PMID:11369192 PMID:11545686 PMID:11835375 PMID:11920834 PMID:12402337 PMID:12497641 PMID:12578939 PMID:12796555 PMID:12901701 PMID:14502374 PMID:15099590 PMID:15099592 PMID:15241803 PMID:15474367 PMID:15537650 PMID:15786462 PMID:16199442 PMID:16437560 PMID:16922730 PMID:17576681 PMID:17620487 PMID:17707409 PMID:17796454 PMID:18380017 PMID:18642376 PMID:19067730 PMID:19259128 PMID:19691535 PMID:19830275 PMID:19909487 PMID:20301384 PMID:20453308 PMID:20516806 PMID:20842290 PMID:21149811 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21337347 PMID:21692910 PMID:22006697 PMID:22131320 PMID:22382358 PMID:22730194 PMID:23224996 PMID:23263778 PMID:23279344 PMID:23313019 PMID:23965407 PMID:24239057 PMID:24646194 PMID:25192979 PMID:25400662 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26110377 PMID:26392352 PMID:26467025 PMID:27067623 PMID:27609586 PMID:28286897 PMID:28333917 PMID:28374912 PMID:28492532 PMID:28660751 PMID:28748849 PMID:29108667 PMID:29127354 PMID:29653220 PMID:29896895 PMID:30675404 PMID:31211173 PMID:31393079 PMID:31664448 PMID:32376792 PMID:32513719 PMID:32538861 PMID:32719652 PMID:33933451 PMID:34332267 PMID:34426522 PMID:35027655 PMID:36539320 PMID:36581210 PMID:37091313 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 |
POLR2F |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:11026454 PMID:16504559 |
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NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469
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G |
PRX |
periaxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16534116 PMID:16770524 PMID:18410371 PMID:18504680 PMID:19837996 PMID:20301641 PMID:21079185 PMID:21326314 PMID:21741241 PMID:21840889 PMID:22847150 PMID:23056405 PMID:24011642 PMID:24078732 PMID:24123366 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25044680 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:28050010 PMID:28492532 PMID:28945198 PMID:28979898 PMID:29623298 PMID:30724636 PMID:31523542 PMID:31664448 PMID:32085570 PMID:32376792 PMID:32453099 PMID:32460404 PMID:35509735 PMID:36413997 PMID:37091313 More...
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NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:119,298,428...119,311,625
Ensembl chr X:129,591,222...129,605,214
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G |
RAB7A |
RAB7A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 PMID:18272684 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 PMID:29130394 More...
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NCBI chr 3:125,784,604...125,873,051
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G |
REEP1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:22703882 PMID:24604904 PMID:25025039 PMID:25741868 PMID:28492532 |
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NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984
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G |
RETREG1 |
reticulophagy regulator 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 PMID:31737055 PMID:33199694 PMID:35332675 More...
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NCBI chr 5:16,774,596...16,920,948
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G |
SBF1 |
SET binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:21210780 PMID:24799518 PMID:25558065 PMID:25741868 |
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NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
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G |
SBF2 |
SET binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:9521281 PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 PMID:17576681 PMID:21840889 PMID:22730194 PMID:24627108 PMID:25231362 PMID:25741868 PMID:25873783 PMID:26467025 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31070812 PMID:32376792 PMID:32906206 PMID:33726816 PMID:34169998 PMID:37091313 More...
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NCBI chr11:9,910,020...10,426,842
Ensembl chr11:9,641,471...10,154,501
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G |
SCN11A |
sodium voltage-gated channel alpha subunit 11 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:16199547 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28492532 PMID:29213238 PMID:30554136 More...
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NCBI chr 3:38,741,485...38,948,400
Ensembl chr 3:39,024,921...39,128,015
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:21698661 PMID:28492532 PMID:28991257 PMID:32368696 |
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NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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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 | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:12807974 PMID:16987171 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34008892 More...
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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 |
SEMA5A |
semaphorin 5A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25648254 |
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NCBI chr 5:9,349,473...9,852,183
Ensembl chr 5:9,168,549...9,564,356
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G |
SEPTIN9 |
septin 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25025039 PMID:28492532 |
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NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586
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G |
SETX |
senataxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15732101 PMID:16717225 PMID:19696032 PMID:25025039 PMID:25741868 PMID:25802885 PMID:26467025 PMID:28492532 More...
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NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
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G |
SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:3000192 PMID:9536098 PMID:14574644 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 PMID:17576681 PMID:18414213 PMID:18511281 PMID:18787844 PMID:18846676 PMID:19086034 PMID:19272779 PMID:19744956 PMID:20028792 PMID:20220177 PMID:20301514 PMID:20301641 PMID:20826437 PMID:21291453 PMID:21840889 PMID:21892769 PMID:22462672 PMID:22938532 PMID:22950825 PMID:22978647 PMID:23466821 PMID:23553667 PMID:23806086 PMID:24033266 PMID:25025039 PMID:25188385 PMID:25231362 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 PMID:26257771 PMID:26392352 PMID:26467025 PMID:26752306 PMID:26794302 PMID:26872463 PMID:27068304 PMID:27231023 PMID:27549087 PMID:27582484 PMID:28492532 PMID:28518168 PMID:29184351 PMID:29321516 PMID:29336362 PMID:29590070 PMID:29970176 PMID:30001926 PMID:30373780 PMID:30653784 PMID:31127727 PMID:31130284 PMID:31211173 PMID:31346473 PMID:31372974 PMID:31393079 PMID:31589614 PMID:31634715 PMID:31673878 PMID:32077159 PMID:32153140 PMID:32376792 PMID:32461654 PMID:32657593 PMID:33643188 PMID:34049139 PMID:34085946 PMID:34193129 PMID:34255403 PMID:36947133 PMID:37091313 PMID:37366078 More...
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NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
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G |
SLC12A6 |
solute carrier family 12 member 6 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:1660691 PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 PMID:17893295 PMID:20020398 PMID:21628467 PMID:23593405 PMID:25525159 PMID:25741868 PMID:28492532 PMID:30038111 PMID:31439721 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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G |
SLC25A46 |
solute carrier family 25 member 46 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:28492532 |
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NCBI chr 5:106,106,112...106,132,355
Ensembl chr 5:111,908,842...111,935,029
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:7420092 PMID:11294660 PMID:23141292 |
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NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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G |
SORD |
sorbitol dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32367058 |
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NCBI chr15:23,971,017...24,025,043
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G |
SOX10 |
SRY-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:11026454 PMID:16504559 |
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NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439
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G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:25741868 |
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NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
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G |
SPTLC1 |
serine palmitoyltransferase long chain base subunit 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:8673084 PMID:10025779 PMID:11242106 PMID:11242114 PMID:11479835 PMID:11781309 PMID:12417569 PMID:13646503 PMID:14152213 PMID:14990347 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:17060578 PMID:18018475 PMID:19132419 PMID:19555464 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20301564 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24604904 PMID:24673574 PMID:24711860 PMID:25042817 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:27164712 PMID:28166811 PMID:28492532 PMID:30420926 PMID:31509666 PMID:32376792 PMID:32399692 PMID:32581362 PMID:33758422 PMID:34103343 PMID:34459874 PMID:34986032 PMID:35837722 PMID:36997154 More...
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NCBI chr 9:63,087,798...63,174,977
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G |
SPTLC2 |
serine palmitoyltransferase long chain base subunit 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:17081983 PMID:25567748 PMID:25741868 PMID:26681808 PMID:28492532 PMID:28902413 PMID:29184351 PMID:30866134 PMID:30955194 PMID:30995999 PMID:31509666 PMID:32730653 More...
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NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
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G |
TFG |
trafficking from ER to golgi regulator |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:28492532 |
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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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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21659498 |
RGD:7205513 |
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy |
ClinVar |
PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:8179305 PMID:10463355 PMID:11891693 PMID:14755468 PMID:16199547 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:21270786 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24793135 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25802885 PMID:25900305 PMID:25974703 PMID:26048687 PMID:26110311 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27330106 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29212899 PMID:29770609 PMID:29858556 PMID:30230566 PMID:30373780 PMID:30385747 PMID:30564185 PMID:31468327 PMID:31928344 PMID:32376792 PMID:32471994 PMID:35190550 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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G |
TTR |
transthyretin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia |
ClinVar |
PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 PMID:1358785 PMID:1490495 PMID:1520326 PMID:1544214 PMID:1547960 PMID:1570831 PMID:1626556 PMID:1664269 PMID:1729893 PMID:1850190 PMID:1867256 PMID:1877623 PMID:1977686 PMID:1979335 PMID:1981182 PMID:1992765 PMID:1997217 PMID:2002274 PMID:2046936 PMID:2063870 PMID:2122246 PMID:2174830 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2564060 PMID:2590199 PMID:2624269 PMID:2646319 PMID:2714785 PMID:2840822 PMID:2856994 PMID:2857043 PMID:2877582 PMID:2891727 PMID:2896079 PMID:2981253 PMID:3011930 PMID:3022107 PMID:3022108 PMID:3022697 PMID:3030336 PMID:3097057 PMID:3229002 PMID:3457802 PMID:3479441 PMID:3627183 PMID:3676699 PMID:3722385 PMID:3762958 PMID:3908483 PMID:3934968 PMID:4079954 PMID:4138132 PMID:4354899 PMID:5507249 PMID:5652991 PMID:5799493 PMID:6087811 PMID:6100724 PMID:6208668 PMID:6311926 PMID:6549130 PMID:6583672 PMID:6651852 PMID:6736244 PMID:6782125 PMID:7389759 PMID:7608709 PMID:7655883 PMID:7656439 PMID:7839813 PMID:7868124 PMID:7906282 PMID:7923855 PMID:8064809 PMID:8071954 PMID:8100581 PMID:8102146 PMID:8194279 PMID:8509786 PMID:8563114 PMID:8698351 PMID:8721565 PMID:8778271 PMID:8784093 PMID:8830175 PMID:8857732 PMID:9017939 PMID:9090525 PMID:9215058 PMID:9268242 PMID:9395311 PMID:9428731 PMID:9475090 PMID:9748014 PMID:9748569 PMID:9771673 PMID:9818054 PMID:9818883 PMID:9843084 PMID:10211412 PMID:10439123 PMID:10453736 PMID:10465115 PMID:10488818 PMID:10506096 PMID:10529370 PMID:10762172 PMID:10772944 PMID:10842715 PMID:11243784 PMID:11385707 PMID:11523162 PMID:11577236 PMID:11709003 PMID:11752419 PMID:11752443 PMID:11812437 PMID:11866053 PMID:11940682 PMID:12000195 PMID:12050338 PMID:12217248 PMID:12433265 PMID:12440486 PMID:12566023 PMID:12588803 PMID:12617705 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14627687 PMID:14640030 PMID:14673473 PMID:14724437 PMID:14968122 PMID:14986482 PMID:15123043 PMID:15185492 PMID:15217993 PMID:15249622 PMID:15523922 PMID:15735344 PMID:15753613 PMID:15820680 PMID:15930086 PMID:16011990 PMID:16194874 PMID:16194875 PMID:16362527 PMID:16399646 PMID:16432141 PMID:16439621 PMID:16439680 PMID:16631014 PMID:16631015 PMID:16911959 PMID:17251346 PMID:17431395 PMID:17431450 PMID:17503405 PMID:17551924 PMID:17698792 PMID:17968687 PMID:18042262 PMID:18276611 PMID:18295603 PMID:18318779 PMID:18460047 PMID:18506713 PMID:18606975 PMID:18830126 PMID:18863976 PMID:18925456 PMID:18984591 PMID:19118530 PMID:19364362 PMID:19428025 PMID:19602727 PMID:19709674 PMID:19781421 PMID:19808383 PMID:19922332 PMID:20209591 PMID:20301373 PMID:20435197 PMID:20660862 PMID:20840742 PMID:20981092 PMID:21406045 PMID:21557933 PMID:21600538 PMID:21992998 PMID:22083004 PMID:22184092 PMID:22244854 PMID:22332999 PMID:22382560 PMID:22449240 PMID:22531659 PMID:22592564 PMID:22620962 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23080516 PMID:23193944 PMID:23240369 PMID:23387326 PMID:23523753 PMID:23580146 PMID:23638696 PMID:23713495 PMID:23716704 PMID:23797140 PMID:23833285 PMID:23885891 PMID:23993291 PMID:24033266 PMID:24046394 PMID:24073013 PMID:24101130 PMID:24101373 PMID:24111657 PMID:24131106 PMID:24164154 PMID:24184229 PMID:24368466 PMID:24455802 PMID:24474780 PMID:24503780 PMID:24517438 PMID:24555660 PMID:24601850 PMID:24633258 PMID:24767411 PMID:24779883 PMID:24800914 PMID:24818650 PMID:24955979 PMID:25044787 PMID:25211232 PMID:25311081 PMID:25395306 PMID:25430583 PMID:25519307 PMID:25525159 PMID:25550818 PMID:25551524 PMID:25644864 PMID:25741868 PMID:25743335 PMID:25743445 PMID:25819286 PMID:25846356 PMID:25997029 PMID:26002815 PMID:26017327 PMID:26088020 PMID:26096568 PMID:26104852 PMID:26115039 PMID:26115788 PMID:26123279 PMID:26243339 PMID:26286619 PMID:26369527 PMID:26428663 PMID:26467025 PMID:26513367 PMID:26521788 PMID:26537620 PMID:26587769 PMID:26610878 PMID:26894299 PMID:26959691 PMID:27033334 PMID:27188913 PMID:27212199 PMID:27249223 PMID:27364045 PMID:27386769 PMID:27532257 PMID:27562180 PMID:27589730 PMID:27618855 PMID:27652282 PMID:27720586 PMID:27758856 PMID:27793437 PMID:27838833 PMID:27858761 PMID:27885756 PMID:28102864 PMID:28166811 PMID:28475415 PMID:28492532 PMID:28494620 PMID:28605421 PMID:28635949 PMID:28728692 PMID:28739313 PMID:28798025 PMID:29016222 PMID:29048471 PMID:29052438 PMID:29121657 PMID:29351628 PMID:29493581 PMID:29520877 PMID:29540472 PMID:29680336 PMID:29764897 PMID:29875424 PMID:30019395 PMID:30093168 PMID:30193540 PMID:30213731 PMID:30243104 PMID:30328212 PMID:30350904 PMID:30572722 PMID:30638075 PMID:30683924 PMID:30813263 PMID:30847666 PMID:30938420 PMID:30953182 PMID:31135624 PMID:31139689 PMID:31343348 PMID:31359320 PMID:31371117 PMID:31553132 PMID:31554435 PMID:31589614 PMID:31659433 PMID:31718691 PMID:31728576 PMID:31740141 PMID:31821430 PMID:31864976 PMID:31919945 PMID:31980526 PMID:32150461 PMID:32217467 PMID:32269295 PMID:32376792 PMID:32399692 PMID:32425064 PMID:32461654 PMID:32512488 PMID:32528171 PMID:32653448 PMID:32674397 PMID:32696671 PMID:32852783 PMID:32880476 PMID:32893242 PMID:33237279 PMID:33373035 PMID:33467513 PMID:33726816 PMID:33739616 PMID:34079032 PMID:34317109 PMID:34331265 PMID:34380564 PMID:34658264 PMID:34668655 PMID:34729535 PMID:35115086 PMID:35377943 PMID:35386059 PMID:35414855 PMID:35717381 PMID:35730447 PMID:35903975 PMID:36003663 PMID:36199823 PMID:36289657 PMID:36380794 PMID:36531853 PMID:36597836 PMID:36648052 PMID:36994840 PMID:37313193 PMID:37456934 PMID:37869146 PMID:38523305 PMID:39458146 More...
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NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
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G |
WNK1 |
WNK lysine deficient protein kinase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:15911806 PMID:16534117 PMID:16636245 PMID:18521183 |
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NCBI chr12:825,659...985,016
Ensembl chr12:791,153...944,602
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G |
YARS1 |
tyrosyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease |
ClinVar |
PMID:14606043 PMID:16429158 PMID:19561293 PMID:21384131 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26975778 PMID:28492532 More...
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NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558
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G |
IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 |
ClinVar |
PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 |
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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 |
FBXO38 |
F-box protein 38 |
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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 |
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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
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G |
HSPB8 |
heat shock protein family B (small) member 8 |
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ISO |
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A |
OMIM ClinVar |
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 PMID:32376792 More...
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NCBI chr12:116,758,785...116,774,883
Ensembl chr12:120,136,986...120,153,102
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G |
MPZ |
myelin protein zero |
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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:32298515 PMID:33179255 PMID:33825325 PMID:34060689 PMID:34210210 PMID:36350884 PMID:37581289 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 |
GDAP1 |
ganglioside induced differentiation associated protein 1 |
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ISO |
ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive |
OMIM ClinVar |
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:15944907 PMID:16199547 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25337607 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33187793 PMID:33477664 PMID:35662277 PMID:36140714 PMID:36801589 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 |
LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22781092 PMID:27686364 |
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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 |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29982452 PMID:32518176 More...
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NCBI chr14:12,338,341...12,628,346
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G |
GDAP1 |
ganglioside induced differentiation associated protein 1 |
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ISO |
DNA:missense mutation:cds:p.G327D (human) |
RGD |
PMID:21365284 |
RGD:12738395 |
NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346
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G |
NEFH |
neurofilament heavy chain |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C |
ClinVar |
PMID:25741868 |
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NCBI chr22:10,525,738...10,536,788
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G |
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:24793135 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:26948711 PMID:27066566 PMID:27330106 PMID:27549087 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29212899 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:32471994 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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G |
NEFH |
neurofilament heavy chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition |
ClinVar OMIM |
PMID:7849698 PMID:25741868 PMID:27040688 PMID:28430856 PMID:28492532 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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G |
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:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11180599 PMID:12497640 PMID:15990638 PMID:17241866 PMID:19948535 PMID:20437614 PMID:21752016 PMID:22040217 PMID:22405927 PMID:22487239 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26760175 PMID:28492532 PMID:31343788 PMID:32065591 PMID:34071626 PMID:34185059 PMID:34746741 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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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:9536098 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:15772096 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:17039978 PMID:17433678 PMID:17576681 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:25168384 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28379183 PMID:28492532 PMID:28495047 PMID:28673555 PMID:28751717 PMID:28902413 PMID:29184355 PMID:29372391 PMID:31211173 PMID:31589614 PMID:31655048 PMID:31673878 PMID:32183277 PMID:32305867 PMID:32376792 PMID:33136338 PMID:33179230 PMID:33187793 PMID:33219631 PMID:33477664 PMID:33480199 PMID:33903021 PMID:34057104 PMID:34366782 PMID:35531120 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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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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NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K |
ClinVar |
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29982452 PMID:32518176 More...
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NCBI chr14:12,338,341...12,628,346
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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:31902012 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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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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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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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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G |
CKB |
creatine kinase B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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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:26795593 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:34374989 PMID:34803881 PMID:35099838 PMID:35231114 PMID:35606327 PMID:36175372 PMID:36413997 PMID:37273706 PMID:37470033 PMID:38374194 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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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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EXOC3L4 |
exocyst complex component 3 like 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:83,716,816...83,732,656
Ensembl chr14:103,535,510...103,545,316
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GPR132 |
G protein-coupled receptor 132 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,697,589...85,716,764
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HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 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 |
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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 |
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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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NUDT14 |
nudix hydrolase 14 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
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PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
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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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PPP1R13B |
protein phosphatase 1 regulatory subunit 13B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,359,917...84,474,892
Ensembl chr14:104,168,873...104,232,974
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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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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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RD3L |
RD3 like |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,565,729...84,567,999
Ensembl chr14:104,373,820...104,375,711
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SIVA1 |
SIVA1 apoptosis inducing factor |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
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TDRD9 |
tudor domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,553,807...84,677,904
Ensembl chr14:104,388,558...104,483,552
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TECPR2 |
tectonin beta-propeller repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
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NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
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TMEM179 |
transmembrane protein 179 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,241,752...85,254,473
Ensembl chr14:105,034,292...105,048,932
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TNFAIP2 |
TNF alpha induced protein 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
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TRAF3 |
TNF receptor associated factor 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 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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TRMT61A |
tRNA methyltransferase 61A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,151,067...84,167,111
Ensembl chr14:103,966,755...103,974,697
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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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XRCC3 |
X-ray repair cross complementing 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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ZBTB42 |
zinc finger and BTB domain containing 42 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
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ZFYVE21 |
zinc finger FYVE-type containing 21 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr14:84,341,941...84,359,831
Ensembl chr14:104,161,904...104,168,787
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ZNF839 |
zinc finger protein 839 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O |
ClinVar |
PMID:28492532 PMID:30510536 |
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NCBI chr14:82,939,031...82,962,369
Ensembl chr14:102,762,698...102,779,447
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LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P |
OMIM ClinVar |
PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 PMID:20865121 PMID:22012984 PMID:22781092 PMID:24894446 PMID:25133958 PMID:25741868 PMID:26392352 PMID:26752306 PMID:26900582 PMID:27164712 PMID:27353043 PMID:27462242 PMID:27549087 PMID:27615052 PMID:27686364 PMID:27848944 PMID:28286897 PMID:28335037 PMID:28492532 PMID:28600779 PMID:29341362 PMID:29417091 PMID:29845787 PMID:30373780 PMID:30996334 PMID:31211173 PMID: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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DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
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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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IGHMBP2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S | 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:27848944 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:33502066 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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DNAJB2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI 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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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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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 |
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NCBI chr12:32,552,589...32,554,943
Ensembl chr12:32,806,130...32,807,641
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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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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 |
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NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
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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 |
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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 |
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NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
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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 |
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NCBI chr12:32,274,240...32,313,839
Ensembl chr12:32,529,634...32,566,248
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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 |
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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 |
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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 |
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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 |
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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 |
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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 chr12:31,404,783...31,415,595
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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 |
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NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
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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 |
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NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694
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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 |
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NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806
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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 |
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NCBI chr12:32,117,696...32,155,740
Ensembl chr12:32,371,489...32,408,860
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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 |
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NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
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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 |
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NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
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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 |
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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 |
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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 chr12:31,340,201...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 |
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NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510
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LRP1 |
LDL receptor related 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 chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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G |
MARCHF9 |
membrane associated ring-CH-type finger 9 |
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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 chr12:31,167,057...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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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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G |
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 |
|
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 |
|
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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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U |
ClinVar |
PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836 PMID:30404819 PMID:30637288 PMID:32949115 PMID:34023347 PMID:34504347 PMID:34504726 PMID:34803902 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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G |
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 |
|
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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G |
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 |
|
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 |
|
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 |
|
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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G |
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 |
|
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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G |
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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G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V |
OMIM ClinVar |
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 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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G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19513778 PMID:20110243 PMID:20301389 PMID:20390432 PMID:21035867 PMID:21465660 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:27084228 PMID:27217339 PMID:27544499 PMID:27790088 PMID:27900367 PMID:27957547 PMID:28119845 PMID:28132690 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28991695 PMID:29246610 PMID:29525178 PMID:29691679 PMID:29908077 PMID:29980238 PMID:30363882 PMID:30373780 PMID:30564185 PMID:30574063 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31589614 PMID:31692161 PMID:31900114 PMID:32005694 PMID:32019516 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32371905 PMID:32383541 PMID:32397312 PMID:32483926 PMID:32987860 PMID:32989326 PMID:33059505 PMID:33098801 PMID:33397523 PMID:33414559 PMID:33589474 PMID:33624863 PMID:33866115 PMID:34153142 PMID:34445196 PMID:35012964 PMID:35254204 PMID:35572931 PMID:35628876 PMID:35752680 PMID:35906604 PMID:36028943 PMID:36139378 PMID:37223130 PMID:37712079 PMID:39044379 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:33619735 PMID:33844363 PMID:34059105 PMID:34189813 PMID:34630290 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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G |
GBF1 |
golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32937143 |
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NCBI chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439
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G |
ACP5 |
acid phosphatase 5, tartrate resistant |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203
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G |
ANGPTL8 |
angiopoietin like 8 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,787,457...10,790,090
Ensembl chr19:11,498,069...11,500,400
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G |
BEST2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033
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G |
C20H19orf38 |
chromosome 20 C19orf38 homolog |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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G |
CALR |
calreticulin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
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G |
CARM1 |
coactivator associated arginine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
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G |
CCDC159 |
coiled-coil domain containing 159 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,893,751...10,902,271
Ensembl chr19:11,604,405...11,612,516
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G |
CNN1 |
calponin 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:11,084,862...11,096,374
Ensembl chr19:11,796,523...11,807,680
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G |
DAND5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,529,830...12,536,052
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G |
DHPS |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
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G |
DNASE2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650
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G |
DNM2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia |
OMIM ClinVar |
PMID:2734399 PMID:9536098 PMID:15731758 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17576681 PMID:17636067 PMID:17825552 PMID:17932957 PMID:18394888 PMID:18414213 PMID:18560793 PMID:19122038 PMID:19130742 PMID:19502294 PMID:19623537 PMID:19932619 PMID:19932620 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21514436 PMID:21762456 PMID:22091729 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22451505 PMID:22613877 PMID:23092955 PMID:23338057 PMID:23374900 PMID:23394783 PMID:23806086 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24215330 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25025039 PMID:25214167 PMID:25259927 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25640679 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26275793 PMID:26392352 PMID:26467025 PMID:26503427 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27328317 PMID:27343996 PMID:27549087 PMID:27572814 PMID:27698851 PMID:27854218 PMID:28357347 PMID:28357410 PMID:28492532 PMID:28532469 PMID:28676641 PMID:28708278 PMID:28971531 PMID:29653220 PMID:30103202 PMID:30146126 PMID:30208955 PMID:30373780 PMID:31017801 PMID:31407473 PMID:32315611 PMID:32528171 PMID:32657593 PMID:32860008 PMID:33333461 PMID:33369814 PMID:33459893 PMID:34008892 PMID:34354735 PMID:34463354 PMID:34595679 PMID:34768808 PMID:34837441 PMID:35993408 PMID:36142275 PMID:36324371 PMID:36964972 More...
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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G |
DOCK6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
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G |
ECSIT |
ECSIT signaling integrator |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:11,052,057...11,075,308
Ensembl chr19:11,763,701...11,786,743
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G |
ELAVL3 |
ELAV like RNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,997,557...11,027,182
Ensembl chr19:11,711,767...11,737,764
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G |
ELOF1 |
elongation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:11,099,049...11,105,333
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G |
EPOR |
erythropoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
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G |
FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244
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G |
FBXW9 |
F-box and WD repeat domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564
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G |
GADD45GIP1 |
GADD45G interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044
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G |
GCDH |
glutaryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
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NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
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G |
GET3 |
guided entry of tail-anchored proteins factor 3, ATPase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908
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G |
HOOK2 |
hook microtubule tethering protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612
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G |
IER2 |
immediate early response 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
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G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
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G |
KANK2 |
KN motif and ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
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G |
KLF1 |
KLF transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
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G |
LDLR |
low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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G |
LOC100986306 |
zinc finger protein 563 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,876,162...11,892,400
Ensembl chr19:12,638,203...12,653,371
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G |
LOC100986980 |
zinc finger protein 763 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,525,905...11,529,331
Ensembl chr19:12,283,031...12,296,554
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G |
LOC100988443 |
zinc finger protein 823 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,268,763...11,286,973
Ensembl chr19:11,978,214...11,995,986
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G |
LOC100988783 |
zinc finger protein 441 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,314,513...11,332,116
Ensembl chr19:12,024,203...12,041,081
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G |
LOC103785277 |
zinc finger protein 433 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,563,747...11,585,319
Ensembl chr19:12,332,398...12,353,203
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G |
LYL1 |
LYL1 basic helix-loop-helix family member |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309
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G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
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G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569
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G |
NACC1 |
nucleus accumbens associated 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
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G |
NFIX |
nuclear factor I X |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
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G |
PRDX2 |
peroxiredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
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G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728
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G |
RAB3D |
RAB3D, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,869,402...10,887,005
Ensembl chr19:11,579,669...11,597,158
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G |
RAD23A |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482
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G |
RGL3 |
ral guanine nucleotide dissociation stimulator like 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,932,016...10,966,701
Ensembl chr19:11,652,700...11,685,293
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G |
RNASEH2A |
ribonuclease H2 subunit A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514
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G |
RTBDN |
retbindin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842
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G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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G |
SPC24 |
SPC24 component of NDC80 kinetochore complex |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,695,488...10,705,849
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G |
STX10 |
syntaxin 10 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422
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G |
SWSAP1 |
SWIM-type zinc finger 7 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,920,774...10,923,769
Ensembl chr19:11,632,682...11,634,202
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G |
SYCE2 |
synaptonemal complex central element protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052
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G |
TIMM29 |
translocase of inner mitochondrial membrane 29 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,482,351...10,483,890
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G |
TMED1 |
transmembrane p24 trafficking protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
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G |
TMEM205 |
transmembrane protein 205 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,890,020...10,893,608
Ensembl chr19:11,601,256...11,604,203
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G |
TNPO2 |
transportin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
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G |
TRIR |
telomerase RNA component interacting RNase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866
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G |
TRMT1 |
tRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,666,426...12,679,454
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G |
TSPAN16 |
tetraspanin 16 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,844,955...10,864,526
Ensembl chr19:11,555,377...11,584,606
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G |
WDR83 |
WD repeat domain 83 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
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G |
WDR83OS |
WD repeat domain 83 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
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G |
YIPF2 |
Yip1 domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
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G |
ZNF136 |
zinc finger protein 136 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,752,504...11,796,167
Ensembl chr19:12,490,274...12,516,458 Ensembl chr19:12,490,274...12,516,458
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G |
ZNF20 |
zinc finger protein 20 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,687,783...11,702,790
Ensembl chr19:12,456,470...12,467,459
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G |
ZNF443 |
zinc finger protein 443 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,991,563...12,021,852
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G |
ZNF490 |
zinc finger protein 490 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,138,375...12,173,313
Ensembl chr19:12,889,625...12,919,759
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G |
ZNF491 |
zinc finger protein 491 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,346,661...11,356,232
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G |
ZNF564 |
zinc finger protein 564 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,088,249...12,141,600
Ensembl chr19:12,836,581...12,861,815
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G |
ZNF625 |
zinc finger protein 625 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,695,318...11,715,239
Ensembl chr19:12,466,592...12,483,466
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G |
ZNF627 |
zinc finger protein 627 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,121,041...11,165,305
Ensembl chr19:11,853,313...11,875,349
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G |
ZNF653 |
zinc finger protein 653 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,029,561...11,051,967
Ensembl chr19:11,740,585...11,763,707
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G |
ZNF709 |
zinc finger protein 709 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,026,842...12,076,648
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G |
ZNF791 |
zinc finger protein 791 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:12,173,427...12,195,067
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G |
ZNF878 |
zinc finger protein 878 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:11,592,589...11,602,765
Ensembl chr19:12,361,219...12,369,278
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G |
A3GALT2 |
alpha 1,3-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,592,614...32,598,986
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G |
ADPRS |
ADP-ribosylserine hydrolase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,354,721...35,360,029
Ensembl chr 1:36,529,051...36,534,235
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G |
AGO1 |
argonaute RISC component 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,148,984...35,196,252
Ensembl chr 1:36,324,733...36,360,832
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G |
AGO3 |
argonaute RISC catalytic component 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,196,371...35,322,220
Ensembl chr 1:36,372,221...36,497,190
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G |
AIRIM |
AFG2 interacting ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,954,580...36,965,289
Ensembl chr 1:38,301,427...38,314,400
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G |
AK2 |
adenylate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
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G |
AKIRIN1 |
akirin 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,269,096...38,283,920
Ensembl chr 1:39,616,036...39,629,300
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G |
AKR1A1 |
aldo-keto reductase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,853,867...44,871,764
Ensembl chr 1:46,211,859...46,230,072
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G |
ARMH1 |
armadillo like helical domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,977,208...44,028,404
Ensembl chr 1:45,343,447...45,393,811
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G |
ARTN |
artemin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,233,097...43,239,044
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G |
ATP6V0B |
ATPase H+ transporting V0 subunit b |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,276,696...43,280,099
Ensembl chr 1:44,647,822...44,651,482
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G |
AZIN2 |
antizyme inhibitor 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,365,430...32,404,880
Ensembl chr 1:33,550,140...33,589,402
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G |
B4GALT2 |
beta-1,4-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,281,011...43,292,992
Ensembl chr 1:44,652,906...44,664,401
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G |
BEST4 |
bestrophin 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,087,062...44,104,995
Ensembl chr 1:45,452,078...45,456,691
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G |
BMP8B |
bone morphogenetic protein 8b |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,047,766...39,079,496
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G |
BTBD19 |
BTB domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,110,664...44,118,397
Ensembl chr 1:45,478,464...45,484,207
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G |
C1H1orf122 |
chromosome 1 C1orf122 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,082,486...37,084,170
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G |
C1H1orf210 |
chromosome 1 C1orf210 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,583,297...42,587,987
Ensembl chr 1:43,960,676...43,964,384
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G |
C1H1orf216 |
chromosome 1 C1orf216 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,984,297...34,989,601
Ensembl chr 1:36,163,376...36,164,065
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|
G |
C1H1orf50 |
chromosome 1 C1orf50 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,065,931...42,080,656
Ensembl chr 1:43,443,611...43,452,684
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|
G |
C1H1orf94 |
chromosome 1 C1orf94 homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:33,443,953...33,496,830
Ensembl chr 1:34,637,104...34,678,740
|
|
G |
CAP1 |
cyclase associated actin cytoskeleton regulatory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,325,715...39,358,365
Ensembl chr 1:40,651,262...40,683,777
|
|
G |
CCDC17 |
coiled-coil domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,921,301...44,926,090
Ensembl chr 1:46,279,879...46,283,930
|
|
G |
CCDC24 |
coiled-coil domain containing 24 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,293,426...43,298,371
Ensembl chr 1:44,664,832...44,669,409
|
|
G |
CCDC30 |
coiled-coil domain containing 30 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,782,720...41,954,106
Ensembl chr 1:43,200,640...43,332,018
|
|
G |
CDC20 |
cell division cycle 20 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,660,338...42,664,618
Ensembl chr 1:44,039,971...44,044,497
|
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G |
CDCA8 |
cell division cycle associated 8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,965,470...36,982,761
Ensembl chr 1:38,314,597...38,331,625
|
|
G |
CFAP144 |
cilia and flagella associated protein 144 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,446,359...42,455,170
Ensembl chr 1:43,820,716...43,832,236
|
|
G |
CFAP57 |
cilia and flagella associated protein 57 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,470,987...42,556,101
Ensembl chr 1:43,848,369...43,933,279
|
|
G |
CITED4 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,154,556...40,156,846
|
|
G |
CLDN19 |
claudin 19 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448
|
|
G |
CLSPN |
claspin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544
|
|
G |
COL8A2 |
collagen type VIII alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541
|
|
G |
COL9A2 |
collagen type IX alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,596,050...39,613,316
Ensembl chr 1:40,918,814...40,935,953
|
|
G |
CSF3R |
colony stimulating factor 3 receptor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612
|
|
G |
CSMD2 |
CUB and Sushi multiple domains 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,800,267...33,443,599
Ensembl chr 1:33,989,876...34,625,977
|
|
G |
CTPS1 |
CTP synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455
|
|
G |
DLGAP3 |
DLG associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,131,692...34,195,856
Ensembl chr 1:35,314,112...35,352,982
|
|
G |
DMAP1 |
DNA methyltransferase 1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,516,839...43,524,206
Ensembl chr 1:44,886,307...44,893,598
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|
G |
DNALI1 |
dynein axonemal light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,829,963...36,839,898
Ensembl chr 1:38,179,381...38,189,378
|
|
G |
DPH2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545
|
|
G |
DYNLT4 |
dynein light chain Tctex-type 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,110,060...44,111,524
Ensembl chr 1:45,476,034...45,476,705
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|
G |
EBNA1BP2 |
EBNA1 binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,462,907...42,470,949
Ensembl chr 1:43,839,917...43,848,352
|
|
G |
EDN2 |
endothelin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721
|
|
G |
EIF2B3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,154,600...44,290,407
Ensembl chr 1:45,525,137...45,650,259
|
|
G |
ELOVL1 |
ELOVL fatty acid elongase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,664,818...42,686,475
Ensembl chr 1:44,044,693...44,048,769
|
|
G |
EPHA10 |
EPH receptor A10 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,987,683...37,038,611
Ensembl chr 1:38,337,871...38,386,946
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|
G |
ERI3 |
ERI1 exoribonuclease family member 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,524,620...43,658,121
Ensembl chr 1:44,894,011...45,027,194
|
|
G |
ERMAP |
erythroblast membrane associated protein (Scianna blood group) |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,115,812...42,143,314
Ensembl chr 1:43,505,756...43,520,622
|
|
G |
EVA1B |
eva-1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,589,717...35,591,312
Ensembl chr 1:36,753,593...36,754,896
|
|
G |
EXO5 |
exonuclease 5 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,798,164...39,805,509
|
|
G |
FHL3 |
four and a half LIM domains 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,270,357...37,279,144
Ensembl chr 1:38,618,231...38,626,543
|
|
G |
FNDC5 |
fibronectin type III domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,152,828...32,161,447
Ensembl chr 1:33,338,886...33,347,284
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|
G |
FOXJ3 |
forkhead box J3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,475,482...41,637,478
Ensembl chr 1:42,855,058...42,992,584
|
|
G |
FOXO6 |
forkhead box O6 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,659,371...40,681,778
|
|
G |
GJA4 |
gap junction protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,059,901...34,063,181
|
|
G |
GJA9 |
gap junction protein alpha 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,146,515...38,159,985
Ensembl chr 1:39,492,609...39,494,156
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,048,136...34,053,298
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
|
|
G |
GJB5 |
gap junction protein beta 5 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,022,109...34,025,606
Ensembl chr 1:35,205,953...35,206,774
|
|
G |
GNL2 |
G protein nucleolar 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,839,858...36,868,986
Ensembl chr 1:38,189,273...38,218,391
|
|
G |
GPBP1L1 |
GC-rich promoter binding protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,928,396...44,987,387
Ensembl chr 1:46,286,565...46,343,891
|
|
G |
GRIK3 |
glutamate ionotropic receptor kainate type subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,060,594...36,312,781
Ensembl chr 1:37,415,254...37,651,705
|
|
G |
GUCA2A |
guanylate cyclase activator 2A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,462,047...41,464,122
Ensembl chr 1:42,841,930...42,844,005
|
|
G |
GUCA2B |
guanylate cyclase activator 2B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,452,722...41,455,192
Ensembl chr 1:42,832,196...42,835,425
|
|
G |
HECTD3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,306,327...44,315,131
Ensembl chr 1:45,670,302...45,678,916
|
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G |
HEYL |
hes related family bHLH transcription factor with YRPW motif like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,913,549...38,929,798
Ensembl chr 1:40,240,118...40,256,933
|
|
G |
HIVEP3 |
HIVEP zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,805,355...41,335,290
Ensembl chr 1:42,120,741...42,203,313
|
|
G |
HMGB4 |
high mobility group box 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:33,146,630...33,150,947
|
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G |
HPCA |
hippocalcin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524
|
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G |
HPCAL4 |
hippocalcin like 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,969,006...38,982,080
Ensembl chr 1:40,295,463...40,308,469
|
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G |
HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609
|
|
G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
|
|
G |
HYI |
hydroxypyruvate isomerase (putative) |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,752,555...42,755,643
|
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G |
INPP5B |
inositol polyphosphate-5-phosphatase B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,135,442...37,220,721
Ensembl chr 1:38,485,163...38,567,704
|
|
G |
IPO13 |
importin 13 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,248,677...43,269,815
Ensembl chr 1:44,619,894...44,641,197
|
|
G |
IPP |
intracisternal A particle-promoted polypeptide |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,993,669...45,052,411
Ensembl chr 1:46,351,496...46,408,224
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,076,552...40,133,913
Ensembl chr 1:41,396,111...41,452,780
|
|
G |
KDM4A |
lysine demethylase 4A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
|
|
G |
KIAA0319L |
KIAA0319 like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,701,571...34,825,628
Ensembl chr 1:35,879,029...36,002,516
|
|
G |
KIF2C |
kinesin family member 2C |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,042,565...44,070,922
Ensembl chr 1:45,408,734...45,436,844
|
|
G |
KLF17 |
KLF transcription factor 17 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,419,910...43,435,499
Ensembl chr 1:44,791,190...44,802,965
|
|
G |
LOC100977537 |
argonaute RISC component 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,072,045...35,122,418
Ensembl chr 1:36,249,038...36,299,259
|
|
G |
LOC100984543 |
bone morphogenetic protein 8A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,776,557...38,815,210
|
|
G |
LSM10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,660,923...35,665,440
Ensembl chr 1:36,829,540...36,829,911
|
|
G |
MACF1 |
microtubule actin crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
|
|
G |
MANEAL |
mannosidase endo-alpha like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,068,591...37,075,844
|
|
G |
MAP7D1 |
MAP7 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,421,781...35,446,939
Ensembl chr 1:36,596,960...36,620,540
|
|
G |
MAST2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:45,105,098...45,341,903
Ensembl chr 1:46,461,456...46,696,053
|
|
G |
MEAF6 |
MYST/Esa1 associated factor 6 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,761,402...36,783,746
Ensembl chr 1:38,111,937...38,133,360
|
|
G |
MED8 |
mediator complex subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,685,324...42,691,243
Ensembl chr 1:44,063,479...44,068,835
|
|
G |
MFSD2A |
MFSD2 lysolipid transporter A, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
|
|
G |
MMACHC |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662
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G |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492
|
|
G |
MRPS15 |
mitochondrial ribosomal protein S15 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,720,722...35,729,397
Ensembl chr 1:36,886,843...36,895,556
|
|
G |
MTF1 |
metal regulatory transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,088,744...37,134,318
Ensembl chr 1:38,438,294...38,482,142
|
|
G |
MUTYH |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
|
|
G |
MYCBP |
MYC binding protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,135,375...38,145,640
|
|
G |
MYCL |
MYCL proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,184,883...39,191,413
Ensembl chr 1:40,510,820...40,517,821
|
|
G |
NASP |
nuclear autoantigenic sperm protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,885,433...44,920,159
Ensembl chr 1:46,242,841...46,278,737
|
|
G |
NCDN |
neurochondrin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,825,694...34,834,729
Ensembl chr 1:36,002,890...36,011,889
|
|
G |
NDUFS5 |
NADH:ubiquinone oxidoreductase subunit S5 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,304,225...38,312,608
Ensembl chr 1:39,651,659...39,659,266
|
|
G |
NFYC |
nuclear transcription factor Y subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,984,716...40,064,464
Ensembl chr 1:41,304,194...41,383,615
|
|
G |
NT5C1A |
5'-nucleotidase, cytosolic IA |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,943,479...38,962,804
Ensembl chr 1:40,275,870...40,289,221
|
|
G |
OSCP1 |
organic solute carrier partner 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,681,787...35,716,220
Ensembl chr 1:36,849,204...36,881,539
|
|
G |
OXCT2 |
3-oxoacid CoA-transferase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,060,137...39,062,481
|
|
G |
P3H1 |
prolyl 3-hydroxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,046,128...42,065,718
Ensembl chr 1:43,423,900...43,443,336
|
|
G |
PABPC4 |
poly(A) binding protein cytoplasmic 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,846,296...38,862,371
Ensembl chr 1:40,172,657...40,188,308
|
|
G |
PHC2 |
polyhomeotic homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,609,560...32,717,143
Ensembl chr 1:33,794,950...33,846,913
|
|
G |
PIK3R3 |
phosphoinositide-3-kinase regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920
|
|
G |
PLK3 |
polo like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,104,564...44,110,162
Ensembl chr 1:45,470,016...45,476,021
|
|
G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
|
|
G |
POU3F1 |
POU class 3 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,317,800...37,320,004
|
|
G |
PPCS |
phosphopantothenoylcysteine synthetase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,756,403...41,773,430
Ensembl chr 1:43,136,720...43,140,620
|
|
G |
PPIE |
peptidylprolyl isomerase E |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,029,412...39,054,500
Ensembl chr 1:40,355,598...40,380,472
|
|
G |
PPIH |
peptidylprolyl isomerase H |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,958,260...41,981,598
Ensembl chr 1:43,336,039...43,353,898
|
|
G |
PPT1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
|
|
G |
PRDX1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
|
|
G |
PSMB2 |
proteasome 20S subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,869,524...34,911,852
Ensembl chr 1:36,046,963...36,090,294
|
|
G |
PTCH2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055
|
|
G |
PTPRF |
protein tyrosine phosphatase receptor type F |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
|
|
G |
RHBDL2 |
rhomboid like 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,157,761...38,214,267
Ensembl chr 1:39,503,171...39,543,378
|
|
G |
RIMKLA |
ribosomal modification protein rimK like family member A |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:41,680,447...41,722,087
Ensembl chr 1:43,061,769...43,095,443
|
|
G |
RIMS3 |
regulating synaptic membrane exocytosis 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,886,961...39,958,519
Ensembl chr 1:41,239,798...41,278,282
|
|
G |
RLF |
RLF zinc finger |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,448,869...39,528,061
Ensembl chr 1:40,773,638...40,852,218
|
|
G |
RNF19B |
ring finger protein 19B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,228,220...32,256,745
Ensembl chr 1:33,414,611...33,441,986
|
|
G |
RNF220 |
ring finger protein 220 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,707,764...43,954,197
Ensembl chr 1:45,083,499...45,319,721
|
|
G |
RPS8 |
ribosomal protein S8 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,078,633...44,081,891
Ensembl chr 1:45,444,879...45,448,166
|
|
G |
RRAGC |
Ras related GTP binding C |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:38,110,578...38,132,179
Ensembl chr 1:39,456,768...39,478,244
|
|
G |
RSPO1 |
R-spondin 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
|
|
G |
S100PBP |
S100P binding protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 1:32,108,070...32,149,433
Ensembl chr 1:33,295,373...33,335,495
|
|
G |
SCMH1 |
Scm polycomb group protein homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,323,101...40,540,236
Ensembl chr 1:41,639,127...41,776,261
|
|
G |
SF3A3 |
splicing factor 3a subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,230,553...37,264,167
Ensembl chr 1:38,575,122...38,612,009
|
|
G |
SFPQ |
splicing factor proline and glutamine rich |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,444,105...34,461,012
Ensembl chr 1:35,632,917...35,641,551
|
|
G |
SH3D21 |
SH3 domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,573,553...35,589,034
Ensembl chr 1:36,743,753...36,752,693
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|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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|
G |
SLC6A9 |
solute carrier family 6 member 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,298,326...43,333,345
Ensembl chr 1:44,664,839...44,704,882
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|
G |
SLFNL1 |
schlafen like 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:40,311,448...40,321,628
Ensembl chr 1:41,627,482...41,637,570
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|
G |
SMAP2 |
small ArfGAP2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,660,134...39,709,902
Ensembl chr 1:40,983,822...41,031,845
|
|
G |
SMIM12 |
small integral membrane protein 12 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,121,669...34,126,465
Ensembl chr 1:35,303,890...35,304,168
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|
G |
SNIP1 |
Smad nuclear interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:36,807,488...36,827,347
Ensembl chr 1:38,155,375...38,176,803
|
|
G |
ST3GAL3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
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G |
STK40 |
serine/threonine kinase 40 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,607,231...35,653,443
Ensembl chr 1:36,775,581...36,821,654
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G |
SVBP |
small vasohibin binding protein |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
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G |
SZT2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
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G |
TEKT2 |
tektin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,350,168...35,354,378
Ensembl chr 1:36,524,686...36,528,586
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|
G |
TESK2 |
testis associated actin remodelling kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,646,716...44,794,419
Ensembl chr 1:46,005,185...46,118,811
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|
G |
TFAP2E |
transcription factor AP-2 epsilon |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,838,962...34,863,268
Ensembl chr 1:36,018,681...36,040,059
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G |
THRAP3 |
thyroid hormone receptor associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,492,918...35,572,896
Ensembl chr 1:36,719,770...36,741,355
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G |
TIE1 |
tyrosine kinase with immunoglobulin like and EGF like domains 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,602,333...42,624,471
Ensembl chr 1:43,979,838...44,002,167
|
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G |
TMCO2 |
transmembrane and coiled-coil domains 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,534,907...39,538,819
Ensembl chr 1:40,858,869...40,862,642
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G |
TMEM125 |
transmembrane protein 125 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:42,571,400...42,575,429
Ensembl chr 1:43,951,331...43,951,990
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G |
TMEM35B |
transmembrane protein 35B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:34,246,470...34,250,771
Ensembl chr 1:35,427,479...35,431,307
|
|
G |
TMEM53 |
transmembrane protein 53 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:43,955,734...43,977,107
Ensembl chr 1:45,305,359...45,343,109
|
|
G |
TMEM54 |
transmembrane protein 54 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,185,082...32,191,891
Ensembl chr 1:33,371,471...33,378,391
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G |
TMEM69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,987,380...44,993,900
Ensembl chr 1:46,345,285...46,351,530
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G |
TOE1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,642,812...44,646,808
Ensembl chr 1:46,000,713...46,005,279
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|
G |
TRAPPC3 |
trafficking protein particle complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:35,402,394...35,415,312
Ensembl chr 1:36,577,114...36,590,226
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G |
TRIM62 |
tripartite motif containing 62 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:32,429,824...32,467,185
Ensembl chr 1:33,614,555...33,650,859
|
|
G |
TRIT1 |
tRNA isopentenyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187
|
|
G |
TSPAN1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
|
|
G |
UROD |
uroporphyrinogen decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,315,912...44,319,356
Ensembl chr 1:45,679,744...45,683,185
|
|
G |
UTP11 |
UTP11 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:37,286,274...37,297,368
Ensembl chr 1:38,633,935...38,645,068
|
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G |
YARS1 |
tyrosyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
OMIM ClinVar |
PMID:3034524 PMID:9536098 PMID:14606043 PMID:16199547 PMID:16429158 PMID:17576681 PMID:19561293 PMID:21384131 PMID:21576112 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27027447 PMID:28440294 PMID:28492532 PMID:29302074 PMID:30304524 PMID:30340945 PMID:30373780 PMID:31130284 PMID:34352414 PMID:34536092 PMID:34813128 More...
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NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558
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YBX1 |
Y-box binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:41,982,365...42,002,430
Ensembl chr 1:43,360,052...43,380,313
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YRDC |
yrdC N6-threonylcarbamoyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:37,077,653...37,082,929
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ZC3H12A |
zinc finger CCCH-type containing 12A |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
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ZFP69 |
ZFP69 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:39,767,402...39,786,090
Ensembl chr 1:41,089,353...41,108,690
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ZFP69B |
ZFP69 zinc finger protein B |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:39,736,604...39,750,288
Ensembl chr 1:41,059,175...41,072,659
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
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ZMYM1 |
zinc finger MYM-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:34,345,439...34,383,605
Ensembl chr 1:35,536,527...35,563,423
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ZMYM4 |
zinc finger MYM-type containing 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:34,535,627...34,690,333
Ensembl chr 1:35,771,826...35,868,117
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ZMYM6 |
zinc finger MYM-type containing 6 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:34,251,912...34,296,627
Ensembl chr 1:35,432,919...35,478,126
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ZMYND12 |
zinc finger MYND-type containing 12 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:41,725,736...41,756,324
Ensembl chr 1:43,110,890...43,136,487
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ZNF362 |
zinc finger protein 362 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:32,412,726...32,586,712
Ensembl chr 1:33,741,628...33,770,353
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ZNF684 |
zinc finger protein 684 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:39,824,037...39,841,025
Ensembl chr 1:41,145,020...41,162,094
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ZNF691 |
zinc finger protein 691 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:42,144,932...42,150,839
Ensembl chr 1:43,526,359...43,527,485
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ZSCAN20 |
zinc finger and SCAN domain containing 20 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:32,758,663...32,787,745
Ensembl chr 1:33,943,212...33,967,134
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ZSWIM5 |
zinc finger SWIM-type containing 5 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C |
ClinVar |
PMID:28492532 |
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NCBI chr 1:44,320,200...44,507,023
Ensembl chr 1:45,686,060...45,867,309
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