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G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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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 |
Adssl1 |
adenylosuccinate synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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G |
Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28749478 PMID:31680123 |
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NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
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G |
Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar |
PMID:2261499 PMID:9536098 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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G |
Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
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G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
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|
G |
Gbe1 |
1,4-alpha-glucan branching enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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G |
Gcn1 |
GCN1 activator of EIF2AK4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
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G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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|
G |
Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
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|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
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G |
Musk |
muscle associated receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar OMIM |
PMID:9536098 PMID:15184594 PMID:15496425 PMID:17576681 PMID:18414213 PMID:21520333 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29704306 PMID:30429133 PMID:30719842 |
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NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
|
NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 |
|
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by OMIM:208150 ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:31680123 PMID:32070632 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
RGD1307100 |
similar to RIKEN cDNA D630029K19 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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|
G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 |
|
NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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|
G |
Spag16 |
sperm associated antigen 16 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
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|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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|
G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
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|
G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
|
|
G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 |
OMIM ClinVar |
PMID:14504330 PMID:18179903 PMID:18252226 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3 |
OMIM ClinVar |
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
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NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
|
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