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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:23757202 PMID:25741868 |
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NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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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 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
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G |
Cfl2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
|
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NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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G |
Kbtbd13 |
kelch repeat and BTB domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Dominant |
ClinVar |
PMID:25741868 |
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NCBI chr 8:70,907,934...70,909,671
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G |
Klhl41 |
kelch-like family member 41 |
|
ISO ISS |
ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar MouseDO |
PMID:24268659 PMID:25558065 |
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NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:12207938 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18330676 PMID:19232495 PMID:19805734 PMID:21798101 PMID:23443021 PMID:23572184 PMID:24056153 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:26809612 PMID:26809617 PMID:26841830 PMID:27105866 PMID:28492532 PMID:29389947 PMID:30057997 PMID:30467404 |
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NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
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G |
Rif1 |
replication timing regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:12207938 PMID:15336686 PMID:16917880 PMID:19805734 PMID:23443021 PMID:24056153 PMID:25205138 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26019235 PMID:26403434 PMID:26467025 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27105866 PMID:28492532 PMID:29389947 PMID:30057997 PMID:30467404 |
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NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
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G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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G |
Tnnt1 |
troponin T1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Nemaline Myopathy, Dominant |
ClinVar |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Tpm3 |
tropomyosin 3 |
susceptibility |
ISO |
DNA:missense mutation ClinVar Annotator: match by term: Nemaline myopathy |
ClinVar |
PMID:7704029 |
RGD:1600404 |
NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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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 nemaline myopathy and facial dysmorphism |
ClinVar OMIM |
PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 |
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NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilaments |
ClinVar |
PMID:9185179 PMID:10508519 |
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NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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G |
Tpm3 |
tropomyosin 3 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 1 ClinVar Annotator: match by OMIM:609284 |
OMIM ClinVar |
PMID:1221488 PMID:7704029 PMID:10587521 PMID:10619715 PMID:11106625 PMID:11964245 PMID:12163017 PMID:12163190 PMID:12196661 PMID:12467750 PMID:15562513 PMID:17376686 PMID:18300303 PMID:18382475 PMID:18716557 PMID:19487656 PMID:19553118 PMID:19953533 PMID:20012312 PMID:20179953 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:25741868 PMID:26307083 PMID:26467025 PMID:27363342 PMID:27854218 PMID:27858751 PMID:28492532 PMID:32860008 |
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NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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G |
Lmod3 |
leiomodin 3 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 10 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28815944 PMID:30291184 |
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NCBI chr 4:129,604,378...129,619,136
Ensembl chr 4:129,604,267...129,619,142
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G |
Mypn |
myopalladin |
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ISO |
ClinVar Annotator: match by term: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive |
ClinVar OMIM |
PMID:25741868 PMID:28017374 PMID:28492532 |
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NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
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G |
Arl5a |
ADP-ribosylation factor like GTPase 5A |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,922,544...37,947,434
Ensembl chr 3:37,924,793...37,947,283
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
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G |
Neb |
nebulin |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar Annotator: match by term: Nemaline myopathy type 2 ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar Annotator: match by OMIM:256030 |
OMIM ClinVar |
PMID:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207937 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16917880 PMID:17525139 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:22183965 PMID:22367672 PMID:22406018 PMID:22941678 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:25356970 PMID:25473036 PMID:25525159 PMID:25589042 PMID:25589043 PMID:25741868 PMID:25741869 PMID:26019235 PMID:26036949 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26573135 PMID:26578207 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27105866 PMID:27168972 PMID:27357428 PMID:27739254 PMID:27854218 PMID:27884173 PMID:27933661 PMID:28131200 PMID:28132693 PMID:28336317 PMID:28391287 PMID:28403181 PMID:28492532 PMID:28600779 PMID:29070751 PMID:29382405 PMID:29389947 PMID:29392406 PMID:29669168 PMID:29689380 PMID:29754767 PMID:30057997 PMID:30369353 PMID:30467404 PMID:30679003 |
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NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
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G |
Rif1 |
replication timing regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar Annotator: match by term: Nemaline myopathy type 2 |
ClinVar |
PMID:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207938 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18414213 PMID:19339519 PMID:19805734 PMID:21148390 PMID:21520333 PMID:23443021 PMID:24033266 PMID:24046450 PMID:24056153 PMID:24725366 PMID:24972929 PMID:25110572 PMID:25205138 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26019235 PMID:26197980 PMID:26403434 PMID:26467025 PMID:26809612 PMID:26809617 PMID:26841830 PMID:27066551 PMID:27105866 PMID:27357428 PMID:27884173 PMID:28132693 PMID:28492532 PMID:29382405 PMID:29389947 PMID:29669168 PMID:29689380 PMID:29754767 PMID:30057997 PMID:30467404 |
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NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive ClinVar Annotator: match by synonym: Myopathy, actin, congenital, with cores |
OMIM ClinVar |
PMID:10508519 PMID:15226407 PMID:15236405 PMID:15520409 PMID:18059071 PMID:18414213 PMID:22825594 PMID:24356988 PMID:25741868 PMID:28492532 |
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NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 4 ClinVar Annotator: match by OMIM:609285 ClinVar Annotator: match by synonym: Cap myopathy 2 |
OMIM ClinVar |
PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:19047562 PMID:22084935 PMID:23689010 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:27854218 PMID:28492532 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5 |
ClinVar |
PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 PMID:28492532 |
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NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 5 |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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G |
Tnnt1 |
troponin T1, slow skeletal type |
|
ISO |
DNA:nonsense mutation:exon:p.E180X (human) ClinVar Annotator: match by term: Nemaline myopathy 5 |
ClinVar OMIM |
PMID:10952871 PMID:12732643 PMID:15665378 PMID:18414213 PMID:24033266 PMID:24689076 PMID:25430424 PMID:25712079 PMID:25741868 PMID:26296490 PMID:26467025 PMID:27429059 PMID:27790152 PMID:28492532 PMID:29178646, PMID:10952871 |
RGD:737736 |
NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
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G |
Ankdd1a |
ankyrin repeat and death domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,034,630...71,057,265
Ensembl chr 8:71,035,309...71,055,969
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G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
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G |
Ca12 |
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 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
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G |
Ciao2a |
cytosolic iron-sulfur assembly component 2A |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,786,336...71,798,258
Ensembl chr 8:71,786,310...71,798,266
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G |
Cilp |
cartilage intermediate layer protein |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,760,922...70,775,891
Ensembl chr 8:70,760,922...70,775,891
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G |
Clpx |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,789,137...70,843,133
Ensembl chr 8:70,789,256...70,843,123
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G |
Csnk1g1 |
casein kinase 1, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,533,372...71,688,483
Ensembl chr 8:71,547,468...71,679,666
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G |
Dapk2 |
death-associated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,822,107...71,941,941
Ensembl chr 8:71,822,129...71,941,910
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G |
Dennd4a |
DENN domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
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G |
Dpp8 |
dipeptidylpeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,521,782...70,576,180
Ensembl chr 8:70,522,092...70,573,424
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G |
Fbxl22 |
F-box and leucine-rich repeat protein 22 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:72,198,043...72,204,730
Ensembl chr 8:72,198,043...72,204,730
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G |
Hacd3 |
3-hydroxyacyl-CoA dehydratase 3 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,471,572...70,509,874
Ensembl chr 8:70,471,572...70,509,874
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G |
Herc1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
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G |
Igdcc3 |
immunoglobulin superfamily, DCC subclass, member 3 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
|
NCBI chr 8:70,630,546...70,685,882
Ensembl chr 8:70,630,767...70,684,115
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G |
Igdcc4 |
immunoglobulin superfamily, DCC subclass, member 4 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,591,561...70,627,329
Ensembl chr 8:70,603,249...70,624,925
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G |
Ints14 |
integrator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,446,157...70,471,140
Ensembl chr 8:70,447,040...70,471,137
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G |
Kbtbd13 |
kelch repeat and BTB domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar Annotator: match by OMIM:609273 |
OMIM ClinVar |
PMID:12805120 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 PMID:24525055 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29382405 PMID:30208948 |
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NCBI chr 8:70,907,934...70,909,671
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G |
Lactb |
lactamase, beta |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389
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G |
Megf11 |
multiple EGF-like-domains 11 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:69,859,256...70,191,070
Ensembl chr 8:69,971,778...70,184,742
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G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
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G |
Oaz2 |
ornithine decarboxylase antizyme 2 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,216,011...71,229,788
Ensembl chr 8:71,216,178...71,228,713
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G |
Parp16 |
poly (ADP-ribose) polymerase family, member 16 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,712,393...70,731,212
Ensembl chr 8:70,708,873...70,729,985
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G |
Pclaf |
PCNA clamp associated factor |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,514,281...71,526,182
Ensembl chr 8:71,514,281...71,526,182
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G |
Pdcd7 |
programmed cell death 7 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:70,860,671...70,875,471
Ensembl chr 8:70,860,671...70,875,471
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G |
Pif1 |
PIF1 5'-to-3' DNA helicase |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,124,477...71,133,460
Ensembl chr 8:71,125,414...71,132,629
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G |
Plekho2 |
pleckstrin homology domain containing O2 |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,092,766...71,118,966
Ensembl chr 8:71,094,090...71,118,927
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G |
Ppib |
peptidylprolyl isomerase B |
|
ISO |
ClinVar Annotator: match by term: Nemaline myopathy 6 |
ClinVar |
PMID:21681106 PMID:24525055 |
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NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
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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 8:70,192,975...70,215,719
Ensembl chr 8:70,192,975...70,215,719
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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 8:72,641,680...72,714,646
Ensembl chr 8:72,638,003...72,714,664
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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 |
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NCBI chr 8:70,915,944...70,931,275
Ensembl chr 8:70,915,953...70,930,179
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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 8:71,165,375...71,200,299
Ensembl chr 8:71,167,305...71,200,536
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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 8:72,741,155...72,746,090
Ensembl chr 8:72,741,155...72,746,090
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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 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
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Slc51b |
solute carrier family 51 subunit 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 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
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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 8:71,745,687...71,786,182
Ensembl chr 8:71,745,896...71,784,551
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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 8:71,725,405...71,728,729
Ensembl chr 8:71,725,771...71,728,685
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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 |
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NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
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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 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
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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 8:70,876,516...70,895,723
Ensembl chr 8:70,884,491...70,896,501
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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 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
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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 8:71,230,830...71,337,746
Ensembl chr 8:71,230,830...71,337,746
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Cfl2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 7 ClinVar Annotator: match by OMIM:610687 |
OMIM ClinVar |
PMID:17160903 PMID:18414213 PMID:22560515 PMID:25741868 PMID:28492532 |
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NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
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Klhl40 |
kelch-like family member 40 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 8 ClinVar Annotator: match by OMIM:615348 |
OMIM ClinVar |
PMID:23746549 PMID:25741868 PMID:26467025 PMID:27528495 PMID:27762439 PMID:28492532 PMID:28973083 PMID:31360996 PMID:32352246 |
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NCBI chr 8:130,416,265...130,421,871
Ensembl chr 8:130,416,355...130,421,871
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Klhl41 |
kelch-like family member 41 |
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ISO |
ClinVar Annotator: match by term: Nemaline myopathy 9 ClinVar Annotator: match by OMIM:615731 |
OMIM ClinVar |
PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
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