|
G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence |
ClinVar |
PMID:25741868 PMID:33060286 |
|
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25557462 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 PMID:31880392 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
G |
Musk |
muscle associated receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30429133 More...
|
|
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
|
|
G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 PMID:22326364 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
|
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
|
|
|
G |
Acp2 |
acid phosphatase 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
|
|
G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 |
|
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
|
|
G |
Add1 |
adducin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
|
|
G |
Adss1 |
adenylosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 |
|
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
|
|
G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
|
|
G |
Arfgap2 |
ARF GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
|
|
G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 |
|
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
|
|
G |
Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 |
|
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
|
|
G |
Bltp1 |
bridge-like lipid transfer protein family member 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
|
|
G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Cstpp1 |
centriolar satellite-associated tubulin polyglutamylase complex regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
|
|
G |
Ddb2 |
damage specific DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder |
ClinVar |
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18567858 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20603078 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25625551 PMID:25741868 PMID:25849006 PMID:26436962 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 PMID:32331917 PMID:33146414 PMID:33756069 PMID:34027146 PMID:36099689 PMID:36579833 PMID:37273706 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
G |
Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
|
|
G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
|
|
G |
Exosc3 |
exosome component 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30025162 PMID:30221345 More...
|
|
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25558065 |
|
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Gbe1 |
1,4-alpha-glucan branching enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
|
|
G |
Gcn1 |
GCN1 activator of EIF2AK4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
|
|
G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
|
|
G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 |
|
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
|
|
G |
Grk4 |
G protein-coupled receptor kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
|
|
G |
Hgfac |
HGF activator |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
|
|
G |
Htt |
huntingtin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
|
|
G |
Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
|
|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Madd |
MAP-kinase activating death domain |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
|
|
G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
|
|
G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
|
|
G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
|
|
G |
Musk |
muscle associated receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:29704306 PMID:29947050 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31920924 PMID:31974414 PMID:32253145 PMID:32453097 PMID:32732226 PMID:35587316 PMID:36308527 PMID:37091828 More...
|
|
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
|
|
G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
|
|
G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
|
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27793025 PMID:28492532 PMID:31159747 PMID:31891871 PMID:33471991 More...
|
|
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
|
|
G |
Nop14 |
NOP14 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453
|
|
G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
|
|
G |
Pacsin3 |
protein kinase C and casein kinase substrate in neurons 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 PMID:39033378 More...
|
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
|
|
G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder |
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:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:27966543 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266093 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:31965297 PMID:32070632 PMID:32528171 PMID:33255631 PMID:33502061 PMID:34106991 PMID:34218205 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 PMID:36308527 More...
|
|
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
|
|
G |
Rgs12 |
regulator of G-protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
|
|
G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:28818389 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
|
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
|
|
G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
|
|
G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
|
|
G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
|
|
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
|
|
G |
Sh3bp2 |
SH3-domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
|
NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251
|
|
G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
|
|
G |
Spag16 |
sperm associated antigen 16 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708
|
|
G |
Spi1 |
Spi-1 proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
|
|
G |
Svep1 |
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:72,811,200...72,988,185
Ensembl chr 5:72,811,410...72,988,525
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
|
|
G |
Txn1 |
thioredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
|
|
G |
Txndc8 |
thioredoxin domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931
|
|
G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
|
|
G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
|
|
G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
|
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 |
OMIM ClinVar |
PMID:2245297 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:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:18252226 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 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:29478601 PMID:30124556 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:32070632 PMID:32528171 PMID:33255631 PMID:34106991 PMID:34218205 PMID:34302381 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 More...
|
|
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
|
|
|
G |
Dock7 |
dedicator of cytokinesis 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
OMIM ClinVar |
PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25849006 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:30266093 PMID:31618753 PMID:31880392 PMID:33146414 PMID:33756069 PMID:34027146 PMID:37273706 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
|
G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
|
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
|
|
G |
Rabep1 |
rabaptin, RAB GTPase binding effector protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973
|
|