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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:19562689 PMID:23757202 PMID:25741868 PMID:27242277 PMID:28492532 PMID:32403337 PMID:32668698 PMID:33333461 PMID:35810298 PMID:36233295 More...
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NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Ankrd1 |
ankyrin repeat domain 1 |
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ISO |
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RGD |
PMID:14516314 |
RGD:1578366 |
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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G |
Cfl2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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G |
Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:25741868 PMID:32607581 |
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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G |
Kbtbd13 |
kelch repeat and BTB domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Dominant |
ClinVar |
PMID:25741868 |
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NCBI chr 8:65,909,821...65,911,558
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G |
Klhl41 |
kelch-like family member 41 |
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ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar MouseDO |
PMID:24268659 PMID:25558065 |
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NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222
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G |
Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:25741868 PMID:25748484 PMID:27858739 |
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NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Mypn |
myopalladin |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:25741868 PMID:28220527 |
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NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 PMID:17525139 PMID:17576681 PMID:18330676 PMID:19232495 PMID:19339519 PMID:19805734 PMID:19944167 PMID:21798101 PMID:22281206 PMID:22367672 PMID:23010307 PMID:23443021 PMID:23572184 PMID:23715096 PMID:23726790 PMID:23826317 PMID:24056153 PMID:24725366 PMID:25079567 PMID:25110572 PMID:25205138 PMID:25205148 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26019235 PMID:26036949 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26562614 PMID:26578207 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27074222 PMID:27105866 PMID:27168972 PMID:27933661 PMID:28132693 PMID:28424332 PMID:28492532 PMID:28977494 PMID:29070751 PMID:29172004 PMID:29246625 PMID:29382405 PMID:29389947 PMID:29644095 PMID:29669168 PMID:29792937 PMID:30057997 PMID:30369353 PMID:30467404 PMID:30517146 PMID:30859559 PMID:31069529 PMID:31230720 PMID:31980526 PMID:32222963 PMID:32721234 PMID:33100332 PMID:33442022 PMID:33742171 PMID:35081925 PMID:36233295 PMID:36697461 PMID:38187705 More...
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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G |
Rif1 |
replication timing regulatory factor 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 PMID:17525139 PMID:17576681 PMID:19339519 PMID:19805734 PMID:23443021 PMID:23726790 PMID:24056153 PMID:24725366 PMID:25110572 PMID:25205138 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26019235 PMID:26403434 PMID:26467025 PMID:26562614 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27105866 PMID:28132693 PMID:28492532 PMID:29246625 PMID:29389947 PMID:29669168 PMID:30057997 PMID:30467404 PMID:31230720 PMID:31980526 PMID:32222963 PMID:32721234 PMID:33100332 PMID:33442022 PMID:36697461 PMID:38187705 More...
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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G |
Tnni3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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G |
Tnnt1 |
troponin T1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Tpm3 |
tropomyosin 3 |
susceptibility |
ISO |
DNA:missense mutation ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar RGD |
PMID:12163190 PMID:12467750 PMID:17376686 PMID:18300303 PMID:19487656 PMID:19553118 PMID:19953533 PMID:20179953 PMID:20301436 PMID:20554445 PMID:21357678 PMID:22749829 PMID:22798622 PMID:23886664 PMID:24095155 PMID:24507666 PMID:24642510 PMID:24692096 PMID:25741868 PMID:26307083 PMID:27363342 PMID:28492532 PMID:7704029 More...
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RGD:1600404 |
NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Intranuclear rod myopathy |
ClinVar |
PMID:24787270 PMID:25741868 PMID:33667896 PMID:34440373 |
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NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 PMID:31195167 PMID:31230720 PMID:32184166 PMID:32637634 PMID:33179433 More...
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NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilaments |
ClinVar |
PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:10838259 PMID:11333380 PMID:12921789 PMID:15198992 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:17187373 PMID:17705262 PMID:18059071 PMID:19206168 PMID:19562689 PMID:20301436 PMID:22067542 PMID:22095987 PMID:22825594 PMID:23294764 PMID:23394784 PMID:23650303 PMID:23757202 PMID:24033266 PMID:24356988 PMID:24642510 PMID:25326635 PMID:25635128 PMID:25741868 PMID:25747004 PMID:25938801 PMID:26172852 PMID:26337181 PMID:27112274 PMID:27447704 PMID:28492532 PMID:29288010 PMID:30732915 PMID:30792901 More...
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NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Selenon |
selenoprotein N |
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ISO |
ClinVar Annotator: match by term: Cap myopathy 1 |
ClinVar |
PMID:12192640 PMID:15122708 PMID:15668457 PMID:16365872 PMID:17204937 PMID:17951086 PMID:19067361 PMID:20301436 PMID:23394784 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30932294 PMID:31127727 PMID:31321302 PMID:32796131 PMID:34867752 More...
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NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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G |
Tpm3 |
tropomyosin 3 |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1221488 PMID:7663526 PMID:7704029 PMID:9536098 PMID:10587521 PMID:10619715 PMID:11106625 PMID:11964245 PMID:12163017 PMID:12163190 PMID:12196661 PMID:12467750 PMID:15562513 PMID:16199547 PMID:17376686 PMID:17576681 PMID:18300303 PMID:18382475 PMID:18716557 PMID:19487656 PMID:19553118 PMID:19953533 PMID:20012312 PMID:20179953 PMID:20301436 PMID:20301465 PMID:20554445 PMID:20951040 PMID:21357678 PMID:22749829 PMID:22798622 PMID:23886664 PMID:24033266 PMID:24095155 PMID:24507666 PMID:24642510 PMID:24692096 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26307083 PMID:26467025 PMID:27363342 PMID:27854218 PMID:27858751 PMID:28492532 PMID:30768849 PMID:32797717 PMID:32860008 PMID:33084218 PMID:33124102 PMID:33435938 PMID:35688744 PMID:35741838 More...
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NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
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G |
Lmod3 |
leiomodin 3 |
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ISO ISS |
OMIM:616165 ClinVar Annotator: match by term: Nemaline myopathy 10 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:25250574 PMID:25741868 PMID:28492532 PMID:28815944 PMID:30291184 PMID:30642739 PMID:31428121 More...
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NCBI chr 4:129,843,964...129,858,684
Ensembl chr 4:129,843,970...129,858,244
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G |
Mypn |
myopalladin |
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ISO ISS |
ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive OMIM:617336 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:18006477 PMID:22286171 PMID:22337857 PMID:22892539 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24558114 PMID:25741868 PMID:25741905 PMID:26383259 PMID:26498160 PMID:26899768 PMID:27194543 PMID:27896284 PMID:28017374 PMID:28220527 PMID:28416588 PMID:28427417 PMID:28492532 PMID:28611029 PMID:29247119 PMID:29447731 PMID:30260051 PMID:30471092 PMID:30764827 PMID:30847666 PMID:31110529 PMID:31333075 PMID:31524317 PMID:31568572 PMID:31983221 PMID:32880476 PMID:33297573 PMID:33906374 PMID:34088380 PMID:34184449 PMID:34797172 PMID:35026164 PMID:35581137 PMID:36178741 PMID:36935760 PMID:37904629 PMID:37936622 More...
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NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:1351946 PMID:9401010 PMID:12921789 PMID:19562689 PMID:22095987 PMID:23394784 PMID:25741868 PMID:26337181 PMID:27447704 PMID:28492532 PMID:29288010 PMID:30792901 More...
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NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Arl5a |
ARF like GTPase 5A |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:25205138 PMID:28492532 |
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NCBI chr 3:36,878,461...36,903,362
Ensembl chr 3:36,880,712...36,903,211
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:25205138 PMID:28492532 |
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NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:25741868 PMID:27854218 PMID:28492532 |
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Neb |
nebulin |
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ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene OMIM:256030 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207938 PMID:15221447 PMID:15266303 PMID:15336686 PMID:16199547 PMID:16917880 PMID:17525139 PMID:17576681 PMID:18330676 PMID:18414213 PMID:19232495 PMID:19339519 PMID:19346529 PMID:19763152 PMID:19805734 PMID:19944167 PMID:20307669 PMID:21148390 PMID:21350120 PMID:21520333 PMID:21724397 PMID:21798101 PMID:22183965 PMID:22367672 PMID:22406018 PMID:22941678 PMID:23010307 PMID:23441136 PMID:23443021 PMID:23555315 PMID:23572184 PMID:23715096 PMID:23726790 PMID:23826317 PMID:24033266 PMID:24046450 PMID:24056153 PMID:24725366 PMID:24753607 PMID:24972929 PMID:25079567 PMID:25110572 PMID:25203624 PMID:25205138 PMID:25205148 PMID:25214167 PMID:25296583 PMID:25332755 PMID:25356970 PMID:25473036 PMID:25525159 PMID:25589042 PMID:25589043 PMID:25640679 PMID:25740301 PMID:25741868 PMID:25741869 PMID:25741874 PMID:26019235 PMID:26036949 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26562614 PMID:26573135 PMID:26578207 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27074222 PMID:27105866 PMID:27168972 PMID:27357428 PMID:27739254 PMID:27854218 PMID:27884173 PMID:27902461 PMID:27933661 PMID:28131200 PMID:28132693 PMID:28336317 PMID:28357410 PMID:28391287 PMID:28403181 PMID:28424332 PMID:28492532 PMID:28600779 PMID:28977494 PMID:29070751 PMID:29172004 PMID:29246625 PMID:29274205 PMID:29382405 PMID:29389947 PMID:29644095 PMID:29669168 PMID:29689380 PMID:29754767 PMID:29792937 PMID:29947179 PMID:29961767 PMID:30057997 PMID:30192042 PMID:30265400 PMID:30369353 PMID:30467404 PMID:30517146 PMID:30679003 PMID:30859559 PMID:30919572 PMID:30950222 PMID:31069529 PMID:31127727 PMID:31230720 PMID:31256874 PMID:31696431 PMID:31965297 PMID:31980526 PMID:32062132 PMID:32222963 PMID:32337335 PMID:32403337 PMID:32721234 PMID:32754643 PMID:33060286 PMID:33100332 PMID:33250842 PMID:33333461 PMID:33442022 PMID:33667896 PMID:33742171 PMID:33742414 PMID:34302381 PMID:34426522 PMID:34440373 PMID:34782754 PMID:34950897 PMID:35081925 PMID:35586607 PMID:36233295 PMID:36474027 PMID:36697461 PMID:38187705 More...
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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G |
Rif1 |
replication timing regulatory factor 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207938 PMID:15266303 PMID:15336686 PMID:16199547 PMID:16917880 PMID:17525139 PMID:17576681 PMID:18414213 PMID:19339519 PMID:19763152 PMID:19805734 PMID:20307669 PMID:21148390 PMID:21520333 PMID:22406018 PMID:22941678 PMID:23443021 PMID:23726790 PMID:24033266 PMID:24046450 PMID:24056153 PMID:24725366 PMID:24972929 PMID:25110572 PMID:25205138 PMID:25296583 PMID:25332755 PMID:25356970 PMID:25525159 PMID:25589042 PMID:25589043 PMID:25740301 PMID:25741868 PMID:26019235 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26562614 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27105866 PMID:27357428 PMID:27884173 PMID:28132693 PMID:28492532 PMID:29246625 PMID:29382405 PMID:29389947 PMID:29669168 PMID:29689380 PMID:29754767 PMID:29947179 PMID:29961767 PMID:30057997 PMID:30265400 PMID:30467404 PMID:30517146 PMID:30950222 PMID:31230720 PMID:31256874 PMID:31696431 PMID:31965297 PMID:31980526 PMID:32222963 PMID:32337335 PMID:32721234 PMID:33100332 PMID:33442022 PMID:33742414 PMID:34426522 PMID:34440373 PMID:35586607 PMID:36474027 PMID:36697461 PMID:38187705 More...
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy 3, with intranuclear rods | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene OMIM:161800 |
OMIM ClinVar MouseDO |
PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:10838259 PMID:11333380 PMID:12921789 PMID:15198992 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:17187373 PMID:17705262 PMID:18059071 PMID:18414213 PMID:19206168 PMID:19562689 PMID:20301436 PMID:22067542 PMID:22095987 PMID:22825594 PMID:23294764 PMID:23394784 PMID:23650303 PMID:23757202 PMID:24033266 PMID:24356988 PMID:24642510 PMID:25326635 PMID:25635128 PMID:25741868 PMID:25747004 PMID:25938801 PMID:26172852 PMID:26337181 PMID:27112274 PMID:27447704 PMID:28492532 PMID:29288010 PMID:30732915 PMID:30792901 More...
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NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital myopathy 23 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene | ClinVar Annotator: match by term: TPM2-related cap myopathy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:20301436 PMID:22084935 PMID:22832343 PMID:23401156 PMID:23689010 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:27854218 PMID:28492532 PMID:30545627 PMID:31966463 PMID:33060286 PMID:34008892 PMID:38071834 More...
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 PMID:28492532 More...
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Ppp6r1 |
protein phosphatase 6, regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:69,190,856...69,217,598
Ensembl chr 1:69,189,822...69,216,272
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Ptprh |
protein tyrosine phosphatase, receptor type, H |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:69,243,704...69,276,294
Ensembl chr 1:69,242,321...69,285,077
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Syt5 |
synaptotagmin 5 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:69,277,351...69,285,071
Ensembl chr 1:69,277,351...69,285,067
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Tmem86b |
transmembrane protein 86B |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:28492532 |
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NCBI chr 1:69,218,109...69,220,474
Ensembl chr 1:69,218,608...69,220,124
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Tnni3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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Tnnt1 |
troponin T1, slow skeletal type |
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ISO ISS |
DNA:nonsense mutation:exon:p.E180X (human) ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene OMIM:605355 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:5908457 PMID:9536098 PMID:10952871 PMID:12732643 PMID:14315666 PMID:15665378 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301465 PMID:24033266 PMID:24689076 PMID:25430424 PMID:25712079 PMID:25741868 PMID:26296490 PMID:26467025 PMID:27429059 PMID:27790152 PMID:28492532 PMID:29178646 PMID:29792937 PMID:32994279 PMID:34440373 PMID:35510366 PMID:10952871 More...
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RGD:737736 |
NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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Tnnt1 |
troponin T1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5B, autosomal recessive, childhood-onset |
OMIM ClinVar |
PMID:25741868 PMID:31970803 PMID:35165004 PMID:35510366 |
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NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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Tnnt1 |
troponin T1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5C, autosomal dominant |
OMIM ClinVar |
PMID:5908457 PMID:14315666 PMID:28492532 PMID:29178646 PMID:35510366 |
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NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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Ankdd1a |
ankyrin repeat and death domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651
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Aph1b |
aph-1 homolog B, gamma secretase subunit |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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Car12 |
carbonic anhydrase 12 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Ciao2a |
cytosolic iron-sulfur assembly component 2A |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455
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Cilp |
cartilage intermediate layer protein |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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Clpx |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
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Csnk1g1 |
casein kinase 1, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826
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Dapk2 |
death-associated protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
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Dennd4a |
DENN domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330
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Dpp8 |
dipeptidylpeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825
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Fbxl22 |
F-box and leucine-rich repeat protein 22 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685
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Hacd3 |
3-hydroxyacyl-CoA dehydratase 3 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507
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Herc1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
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Igdcc3 |
immunoglobulin superfamily, DCC subclass, member 3 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959
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Igdcc4 |
immunoglobulin superfamily, DCC subclass, member 4 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648
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Ints14 |
integrator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804
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Kbtbd13 |
kelch repeat and BTB domain containing 13 |
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ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy 6 OMIM:609273 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12805120 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 PMID:24525055 PMID:25741868 PMID:26467025 PMID:27074222 PMID:28492532 PMID:29382405 PMID:30208948 PMID:31127727 PMID:31167812 PMID:31475037 PMID:31671076 PMID:31828823 PMID:33693846 More...
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NCBI chr 8:65,909,821...65,911,558
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Lactb |
lactamase, beta |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539
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LOC120094549 |
U5 spliceosomal RNA |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991
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Megf11 |
multiple EGF-like-domains 11 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
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Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 PMID:28492532 |
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NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
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Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Oaz2 |
ornithine decarboxylase antizyme 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453
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Parp16 |
poly (ADP-ribose) polymerase family, member 16 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433
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Pclaf |
PCNA clamp associated factor |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994 Ensembl chr 8:66,420,587...66,432,994
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Pdcd7 |
programmed cell death 7 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333
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Pif1 |
PIF1 5'-to-3' DNA helicase |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200
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Plekho2 |
pleckstrin homology domain containing O2 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266
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Ppib |
peptidylprolyl isomerase B |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
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Rab11a |
RAB11a, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
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Rab8b |
RAB8B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384
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Rasl12 |
RAS-like, family 12 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 PMID:28492532 |
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NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
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Rbpms2 |
RNA binding protein, mRNA processing factor 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268
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Rps27l |
ribosomal protein S27-like |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418 Ensembl chr12:67,562,483...67,567,418 Ensembl chr 2:67,562,483...67,567,418
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Slc24a1 |
solute carrier family 24 member 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
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Slc51b |
SLC51 subunit beta |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 PMID:28492532 |
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NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
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Snx1 |
sorting nexin 1 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360
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Snx22 |
sorting nexin 22 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850
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Spg21 |
SPG21 abhydrolase domain containing, maspardin |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 PMID:28492532 |
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NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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Trip4 |
thyroid hormone receptor interactor 4 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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G |
Ubap1l |
ubiquitin associated protein 1-like |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593
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G |
Usp3 |
ubiquitin specific peptidase 3 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
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Zfp609 |
zinc finger protein 609 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977
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Cfl2 |
cofilin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nemaline myopathy 7 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17160903 PMID:17576681 PMID:18414213 PMID:22560515 PMID:24610938 PMID:25741868 PMID:27447704 PMID:28492532 PMID:29457652 More...
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NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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Klhl40 |
kelch-like family member 40 |
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ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy 8 OMIM:615348 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746549 PMID:24033266 PMID:24960163 PMID:25721947 PMID:25741868 PMID:26467025 PMID:26578207 PMID:27528495 PMID:27762439 PMID:28492532 PMID:28973083 PMID:30665247 PMID:31360996 PMID:32352246 PMID:32403337 PMID:34930662 PMID:35379254 PMID:36474027 More...
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NCBI chr 8:121,441,285...121,446,801
Ensembl chr 8:121,441,287...121,446,800
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G |
Klhl41 |
kelch-like family member 41 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 9 |
OMIM ClinVar |
PMID:16199547 PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222
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