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G |
Afg1l |
AFG1 like ATPase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:45,798,344...45,967,997
Ensembl chr20:45,798,349...45,967,906
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G |
Ak9 |
adenylate kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 PMID:30740813 |
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NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136
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G |
Armc2 |
armadillo repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819
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G |
Bend3 |
BEN domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:46,980,246...47,017,059
Ensembl chr20:46,979,831...47,014,671
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G |
Ccn4 |
cellular communication network factor 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:12872253 PMID:23996628 PMID:28492532 |
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NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
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G |
Cd164 |
CD164 molecule |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634
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G |
Cep57l1 |
centrosomal protein 57-like 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:45,238,039...45,294,575
Ensembl chr20:45,238,044...45,294,540
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G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Drp2 |
dystrophin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:10862709 PMID:23664119 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25741868 PMID:26100331 PMID:27549087 PMID:28196890 PMID:28492532 PMID:28554554 More...
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Fgd4 |
FYVE, RhoGEF and PH domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 |
ClinVar |
PMID:9536098 PMID:15744041 PMID:16199547 PMID:17564959 PMID:17564972 PMID:17576681 PMID:19221294 PMID:20301641 PMID:25741868 PMID:26392352 PMID:26400421 PMID:26467025 PMID:26957070 PMID:28492532 PMID:28518168 PMID:28847448 PMID:28902413 PMID:31152969 PMID:32376792 PMID:32461654 More...
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|
NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972
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G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24088667 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25510381 PMID:25614874 PMID:25617005 PMID:25640679 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26662798 PMID:26742954 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28251916 PMID:28430856 PMID:28492532 PMID:28859335 PMID:28889094 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29525178 PMID:29650794 PMID:30373780 PMID:30552426 PMID:30740813 PMID:30792901 PMID:31313076 PMID:31475037 PMID:31743256 PMID:32022442 PMID:32268254 PMID:32376792 PMID:32385536 PMID:32385905 PMID:33096303 PMID:33424531 PMID:33502061 PMID:33770234 PMID:34122524 PMID:34169998 PMID:34426522 PMID:36133075 PMID:37223130 More...
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:11743580 PMID:25741868 PMID:28492532 PMID:31673878 |
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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|
G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
|
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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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 type 4 |
ClinVar |
|
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 PMID:18996695 PMID:20008656 PMID:20301684 PMID:20350294 PMID:20587496 PMID:21508331 PMID:21707411 PMID:22206013 PMID:22492563 PMID:22762946 PMID:24604904 PMID:24819634 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26085578 PMID:26467025 PMID:27549087 PMID:28063088 PMID:28492532 PMID:29898954 PMID:31673878 PMID:32376792 More...
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mical1 |
microtubule associated monooxygenase, calponin and LIM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 PMID:30740813 |
|
NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089
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G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
|
|
NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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G |
Mtmr2 |
myotubularin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 |
ClinVar |
PMID:8190646 PMID:9536098 PMID:10802647 PMID:10856930 PMID:11283303 PMID:11335693 PMID:11354824 PMID:12045210 PMID:12398840 PMID:12668758 PMID:12925573 PMID:14530412 PMID:16162938 PMID:16199547 PMID:17576681 PMID:17973976 PMID:19587293 PMID:20410104 PMID:20981092 PMID:25025039 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27582484 PMID:27884173 PMID:28492532 PMID:31070812 PMID:31680794 PMID:32214227 PMID:32376792 PMID:32657593 More...
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NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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G |
Mtres1 |
mitochondrial transcription rescue factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:47,022,343...47,038,888
Ensembl chr20:47,022,342...47,038,805
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|
G |
Ndrg1 |
N-myc downstream regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 |
ClinVar |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:18787837 PMID:20301641 PMID:21892769 PMID:23996628 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28492532 PMID:28518168 PMID:28776325 PMID:30311386 PMID:31372974 PMID:32376792 PMID:32461654 PMID:34169998 PMID:36413997 More...
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|
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Nr2e1 |
nuclear receptor subfamily 2, group E, member 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:46,050,134...46,071,257
Ensembl chr20:46,050,414...46,073,949
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G |
Ostm1 |
osteoclastogenesis associated transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
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G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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G |
Phf20l1 |
PHD finger protein 20-like 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
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G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
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 chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Ppil6 |
peptidylprolyl isomerase like 6 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:44,989,509...45,017,833
Ensembl chr20:44,988,943...45,018,340
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:2758284 PMID:9536098 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16199547 PMID:16770524 PMID:17576681 PMID:18410371 PMID:19837996 PMID:20301641 PMID:21079185 PMID:21741241 PMID:21840889 PMID:22847150 PMID:23056405 PMID:24011642 PMID:24033266 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25614874 PMID:25628743 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:27104957 PMID:27854218 PMID:27862672 PMID:28492532 PMID:28708278 PMID:28902413 PMID:29623298 PMID:29858556 PMID:30724636 PMID:31372974 PMID:31523542 PMID:31664448 PMID:31673878 PMID:32085570 PMID:32376792 PMID:32453099 PMID:32460404 PMID:32665875 PMID:34476298 PMID:35509735 PMID:36413997 PMID:36833258 PMID:37091313 More...
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135
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G |
Rtn4ip1 |
reticulon 4 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G |
Sbf1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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G |
Sbf2 |
SET binding factor 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:9536098 PMID:10932274 PMID:12687498 PMID:15304601 PMID:15477569 PMID:16199547 PMID:17576681 PMID:22730194 PMID:24290377 PMID:24627108 PMID:25025039 PMID:25741868 PMID:25873783 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31070812 PMID:32376792 PMID:32906206 PMID:33726816 PMID:34169998 PMID:36790232 PMID:37091313 More...
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NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
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G |
Scml4 |
Scm polycomb group protein like 4 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:46,347,350...46,441,246
Ensembl chr20:46,347,413...46,440,103
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G |
Sec63 |
SEC63 homolog, protein translocation regulator |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
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NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
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G |
Septin9 |
septin 9 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
|
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NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
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G |
Sesn1 |
sestrin 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:45,294,876...45,387,698
Ensembl chr20:45,294,871...45,387,697
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:3000192 PMID:9536098 PMID:14574644 PMID:16199547 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:19763152 PMID:20028792 PMID:20220177 PMID:20301514 PMID:20301641 PMID:20307669 PMID:20826437 PMID:21291453 PMID:21840889 PMID:21892769 PMID:22406018 PMID:22462672 PMID:22730194 PMID:22938532 PMID:22950825 PMID:22978647 PMID:23281072 PMID:23466821 PMID:23553667 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25188385 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26752306 PMID:26794302 PMID:26872463 PMID:27025386 PMID:27068304 PMID:27231023 PMID:27549087 PMID:27582484 PMID:28492532 PMID:28518168 PMID:28902413 PMID:29184351 PMID:29321516 PMID:29336362 PMID:30001926 PMID:30373780 PMID:30653784 PMID:31130284 PMID:31211173 PMID:31227790 PMID:31346473 PMID:31372974 PMID:31393079 PMID:31634715 PMID:31673878 PMID:31692161 PMID:31827005 PMID:32376792 PMID:32461654 PMID:32657593 PMID:33643188 PMID:34049139 PMID:34085946 PMID:34190362 PMID:34193129 PMID:34255403 PMID:36947133 PMID:37091313 PMID:37273706 More...
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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G |
Sla |
src-like adaptor |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:12872253 PMID:23996628 PMID:28492532 |
|
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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G |
Smpd2 |
sphingomyelin phosphodiesterase 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:44,986,229...44,989,343
Ensembl chr20:44,986,231...44,989,441
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G |
Snx3 |
sorting nexin 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
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G |
Sobp |
sine oculis binding protein homolog |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 |
|
NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
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G |
Tg |
thyroglobulin |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:12872253 PMID:23996628 PMID:28492532 |
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NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tmem71 |
transmembrane protein 71 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32376792 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Wnk1 |
WNK lysine deficient protein kinase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
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Zbtb24 |
zinc finger and BTB domain containing 24 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 |
ClinVar |
PMID:23623387 PMID:28492532 PMID:30740813 |
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NCBI chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A |
ClinVar |
PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 |
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A CTD Direct Evidence: marker/mechanism DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human) DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:12868504 PMID:14561495 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:16343542 PMID:17039978 PMID:17433678 PMID:17576681 PMID:18021315 PMID:18062449 PMID:18231710 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:21212451 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21519004 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:24627108 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26525999 PMID:26648837 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:28902413 PMID:29184355 PMID:29372391 PMID:29858556 PMID:31069529 PMID:31211173 PMID:31589614 PMID:31673878 PMID:31827005 PMID:32183277 PMID:32298515 PMID:32376792 PMID:33136338 PMID:33179230 PMID:33187793 PMID:33219631 PMID:33477664 PMID:33480199 PMID:33903021 PMID:34057104 PMID:34169998 PMID:34190362 PMID:34366782 PMID:35531120 PMID:35656516 PMID:35662277 PMID:36140714 PMID:37091313 PMID:11743580 PMID:11743579 More...
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RGD:12738393, RGD:12738391 |
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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Jph1 |
junctophilin 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284
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Ly96 |
lymphocyte antigen 96 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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Tmem70 |
transmembrane protein 70 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form |
ClinVar |
PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 |
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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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, 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:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33187793 PMID:33477664 PMID:35662277 PMID:36140714 More...
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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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 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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Mtmr2 |
myotubularin related protein 2 |
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ISO ISS |
OMIM:601382 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:17576681 PMID:20301641 PMID:20981092 PMID:25741868 PMID:26467025 PMID:27582484 PMID:27884173 PMID:28492532 PMID:31070812 PMID:31680794 PMID:32214227 PMID:32376792 More...
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NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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Sbf2 |
SET binding factor 2 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 OMIM:604563 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:16199547 PMID:17576681 PMID:22730194 PMID:24290377 PMID:25025039 PMID:25741868 PMID:25873783 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31673878 PMID:32376792 PMID:32906206 PMID:33726816 PMID:34169998 PMID:36790232 PMID:37091313 More...
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NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
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Ppp6r2 |
protein phosphatase 6, regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 |
ClinVar |
PMID:23749797 PMID:33987933 |
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NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
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Sbf1 |
SET binding factor 1 |
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ISO ISS |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition OMIM:615284 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 PMID:24799518 PMID:25558065 PMID:25741868 PMID:28005197 PMID:28492532 PMID:28902413 PMID:30564305 PMID:31482689 PMID:33726816 PMID:33987933 PMID:34118926 PMID:37091313 More...
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NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO ISS |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder OMIM:601596 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 PMID:16924012 PMID:17470135 PMID:17576681 PMID:18414213 PMID:18511281 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:22950825 PMID:22978647 PMID:23281072 PMID:23466821 PMID:23553667 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25188385 PMID:25326637 PMID:25429913 PMID:25525159 PMID:25614874 PMID:25737037 PMID:25741868 PMID:25741869 PMID:26257172 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:30001926 PMID:30373780 PMID:30653784 PMID:31130284 PMID:31346473 PMID:31634715 PMID:31673878 PMID:32376792 PMID:32461654 PMID:32657593 PMID:34049139 PMID:34085946 PMID:34193129 PMID:36947133 PMID:37091313 PMID:37273706 More...
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Ndrg1 |
N-myc downstream regulated 1 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM:601455 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:20301641 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31673878 PMID:32376792 PMID:36413997 More...
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E |
ClinVar |
PMID:25741868 |
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NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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Egr2 |
early growth response 2 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E OMIM:605253 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 PMID:20301641 PMID:25741868 PMID:28492532 More...
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NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital |
ClinVar |
PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 PMID:12805115 PMID:12807974 PMID:12845552 PMID:12953275 PMID:15094849 PMID:15241803 PMID:17468193 PMID:19454582 PMID:20456450 PMID:23342407 PMID:24033266 PMID:25741868 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29687021 PMID:33179255 More...
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Hypomyelination, severe congenital |
ClinVar |
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition |
OMIM ClinVar |
PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16534116 PMID:16770524 PMID:18504680 PMID:19837996 PMID:20301641 PMID:21079185 PMID:21840889 PMID:22847150 PMID:24011642 PMID:24033266 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:27104957 PMID:28492532 PMID:29623298 PMID:31372974 PMID:31523542 PMID:31664448 PMID:31673878 PMID:32085570 PMID:32214227 PMID:32376792 PMID:32453099 PMID:34476298 PMID:35509735 PMID:36413997 PMID:36833258 PMID:37091313 More...
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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Hk1 |
hexokinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type |
OMIM CTD ClinVar |
PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 PMID:22978647 PMID:23996628 PMID:25741868 PMID:28492532 PMID:30778173 PMID:38617198 More...
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NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Fgd4 |
FYVE, RhoGEF and PH domain containing 4 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H OMIM:609311 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 PMID:19221294 PMID:19332693 PMID:20301641 PMID:22734899 PMID:23466821 PMID:23550889 PMID:24078732 PMID:25231362 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 PMID:28518168 PMID:32376792 PMID:32461654 More...
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NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972
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Fig4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO ISS |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J OMIM:611228 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28251916 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29650794 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:32022442 PMID:32268254 PMID:32376792 PMID:32385536 PMID:33424531 PMID:33502061 PMID:34426522 PMID:36133075 PMID:37223130 More...
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K |
OMIM ClinVar |
PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 PMID:16542579 PMID:19780766 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24262866 PMID:24462369 PMID:25741868 PMID:27896082 PMID:28492532 PMID:29933018 PMID:31069529 PMID:32445240 More...
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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