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G
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Abca7
|
ATP binding cassette subfamily A member 7
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ISO
|
ClinVar Annotator: match by term: Contractures
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ClinVar |
PMID:25741868 |
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NCBI chr 7:10,342,092...10,362,094
Ensembl chr 7:10,342,092...10,361,989
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G
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Adamtsl2
|
ADAMTS-like 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18677313 |
|
NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635
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|
G
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Antxr2
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ANTXR cell adhesion molecule 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12973667 PMID:14508707 |
|
NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168
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G
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Col1a1
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collagen type I alpha 1 chain
|
treatment
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IEP
|
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
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G
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Col3a1
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collagen type III alpha 1 chain
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treatment
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IEP
|
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232
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|
G
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Drg1
|
developmentally regulated GTP binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr14:82,328,320...82,344,416
Ensembl chr14:82,328,320...82,344,348
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G
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Ergic1
|
endoplasmic reticulum-golgi intermediate compartment 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
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ClinVar |
|
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NCBI chr10:16,531,192...16,626,974
Ensembl chr10:17,035,615...17,131,376
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G
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Fat1
|
FAT atypical cadherin 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:26489027 PMID:28492532 |
|
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609
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|
G
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Fgfrl1
|
fibroblast growth factor receptor-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752
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G
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Flii
|
FLII, actin remodeling protein
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
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ClinVar |
|
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NCBI chr10:45,893,566...45,907,547
Ensembl chr10:45,893,572...45,907,491
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G
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Gldn
|
gliomedin
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:25741868 PMID:28726266 PMID:32812332 |
|
NCBI chr 8:63,575,270...63,619,346
Ensembl chr 8:63,575,270...63,619,346
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|
G
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Hoxa11
|
homeobox A11
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844
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G
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Mid1ip1
|
MID1 interacting protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr X:14,733,539...14,735,859
Ensembl chr X:14,732,830...14,739,079
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G
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Mybpc2
|
myosin binding protein C2
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:26752647 |
|
NCBI chr 1:94,994,121...95,017,584
Ensembl chr 1:104,131,323...104,154,101
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G
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Myh7b
|
myosin heavy chain 7B
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:25741868 PMID:26752647 PMID:28492532 |
|
NCBI chr 3:164,537,211...164,582,441
Ensembl chr 3:164,558,340...164,582,094
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|
G
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Myo9a
|
myosin IXA
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:25741868 PMID:26752647 |
|
NCBI chr 8:69,044,853...69,248,094
Ensembl chr 8:69,044,885...69,245,231
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|
G
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Myom2
|
myomesin 2
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr16:81,222,467...81,295,025
Ensembl chr16:81,221,938...81,295,162
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G
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Myom3
|
myomesin 3
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:25741868 |
|
NCBI chr 5:153,276,306...153,326,847
Ensembl chr 5:153,276,261...153,326,839
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|
G
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Nr2c1
|
nuclear receptor subfamily 2, group C, member 1
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 7:30,602,338...30,655,610
Ensembl chr 7:30,603,018...30,658,349
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G
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Prdm2
|
PR/SET domain 2
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 5:160,704,396...160,815,184
Ensembl chr 5:160,705,462...160,815,140
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G
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Prg4
|
proteoglycan 4
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10545950 |
|
NCBI chr13:65,037,363...65,054,764
Ensembl chr13:65,037,363...65,054,508
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G
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Psd3
|
pleckstrin and Sec7 domain containing 3
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|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:26752647 |
|
NCBI chr16:26,238,595...26,802,535
Ensembl chr16:26,340,028...26,802,535
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G
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Ryr3
|
ryanodine receptor 3
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:29498452 PMID:31230720 |
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NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:119,885,878...120,433,677
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G
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Slc26a2
|
solute carrier family 26 member 2
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|
ISO
|
associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human)
|
RGD |
PMID:21155763 |
RGD:11072411 |
NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012
|
|
G
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Sptbn4
|
spectrin, beta, non-erythrocytic 4
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049
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|
G
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Syt2
|
synaptotagmin 2
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr13:48,639,634...48,749,814
Ensembl chr13:48,639,934...48,749,812
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G
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Tgfb3
|
transforming growth factor, beta 3
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
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|
G
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Tmem214
|
transmembrane protein 214
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|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 6:31,222,635...31,231,659
Ensembl chr 6:31,222,635...31,230,381
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G
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Tor1a
|
torsin family 1, member A
|
|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
|
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NCBI chr 3:34,648,421...34,655,453
Ensembl chr 3:34,648,422...34,655,417
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|
G
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Vps8
|
VPS8 subunit of CORVET complex
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|
ISO
|
ClinVar Annotator: match by term: Contractures
|
ClinVar |
PMID:26752647 |
|
NCBI chr11:92,906,702...93,140,844
Ensembl chr11:92,906,700...93,138,570
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|
|
G
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Col12a1
|
collagen type XII alpha 1 chain
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy
|
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
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|
G
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Col6a1
|
collagen type VI alpha 1 chain
|
|
ISO ISS
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures OMIM:158810
|
CTD ClinVar MouseDO |
PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 PMID:9724608 PMID:10419498 PMID:11707460 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20302629 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26566670 PMID:26867126 PMID:27363342 PMID:27418678 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:29419890 PMID:30564623 PMID:32154989 PMID:34008892 PMID:34167565 PMID:39825153 More...
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|
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
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|
G
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Col6a2
|
collagen type VI alpha 2 chain
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
|
ClinVar |
PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23326386 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31862442 PMID:32053901 PMID:32528171 PMID:33567613 PMID:34167565 PMID:37091313 PMID:37569848 More...
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|
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
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|
G
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Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
|
ClinVar |
PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 PMID:16141002 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:20301676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25380242 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26872670 PMID:27708273 PMID:27854218 PMID:27884173 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:30687093 PMID:30706156 PMID:31066050 PMID:31230720 PMID:31265121 PMID:31731261 PMID:31862442 PMID:32343762 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:33879512 PMID:33964895 PMID:35239206 PMID:35487415 PMID:35846108 PMID:36498898 PMID:36982625 PMID:37091313 PMID:39021299 More...
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|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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|
G
|
Ftcd
|
formimidoyltransferase cyclodeaminase
|
|
ISO
|
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
|
ClinVar |
PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 PMID:20976770 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 More...
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|
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237
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|
|
G
|
Ackr3
|
atypical chemokine receptor 3
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:98,246,605...98,260,214
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|
G
|
Agap1
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:97,487,382...97,922,870
Ensembl chr 9:97,487,406...97,922,870
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|
G
|
Agxt
|
alanine--glyoxylate aminotransferase
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745
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|
G
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Ankmy1
|
ankyrin repeat and MYND domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:100,869,899...100,924,030
Ensembl chr 9:100,871,373...100,924,229
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|
G
|
Ano7
|
anoctamin 7
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:101,364,915...101,392,711
Ensembl chr 9:101,364,842...101,394,173
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|
G
|
Aqp12a
|
aquaporin 12A
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:101,001,939...101,007,425
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|
G
|
Asb1
|
ankyrin repeat and SOCS box-containing 1
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|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:99,566,852...99,588,321
Ensembl chr 9:99,567,867...99,583,907
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|
G
|
Asb18
|
ankyrin repeat and SOCS box-containing 18
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:90,531,350...90,595,953
Ensembl chr 9:97,979,264...98,043,540
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|
G
|
Atg4b
|
autophagy related 4B, cysteine peptidase
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:101,729,772...101,761,456
Ensembl chr 9:101,726,782...101,761,622
|
|
G
|
Bok
|
BCL2 family apoptosis regulator BOK
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:101,670,729...101,681,834
Ensembl chr 9:101,670,625...101,681,833
|
|
G
|
Capn10
|
calpain 10
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:100,945,551...100,957,912
|
|
G
|
Clcn5
|
chloride voltage-gated channel 5
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:14673707 PMID:25741868 PMID:28492532 |
|
NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
|
|
G
|
Col12a1
|
collagen type XII alpha 1 chain
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:25741868 |
|
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
|
|
G
|
Col6a1
|
collagen type VI alpha 1 chain
|
susceptibility
|
ISO
|
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar OMIM RGD |
PMID:963533 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8730294 PMID:8782832 PMID:9536098 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15563506 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:16278855 PMID:16935502 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20301676 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23738969 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25204870 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26867126 PMID:27363342 PMID:27418678 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28831785 PMID:28877744 PMID:28984114 PMID:29382405 PMID:29406609 PMID:29417091 PMID:29419890 PMID:29465610 PMID:30564623 PMID:30706156 PMID:30895940 PMID:31130284 PMID:31273343 PMID:31589614 PMID:32065942 PMID:32154989 PMID:32389683 PMID:32403337 PMID:32528171 PMID:33250842 PMID:33726816 PMID:34008892 PMID:34167565 PMID:35533453 PMID:37010288 PMID:38155714 PMID:39825153 PMID:8782832 More...
|
RGD:1600934 |
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
|
|
G
|
Col6a2
|
collagen type VI alpha 2 chain
|
susceptibility
|
ISO
|
Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1
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ClinVar RGD |
PMID:75955 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:9536098 PMID:11381124 PMID:11865138 PMID:12218063 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22992134 PMID:23040494 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24134684 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25211533 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:25741909 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27421963 PMID:27447704 PMID:27453230 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28600779 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30467950 PMID:30564623 PMID:30755392 PMID:30963254 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31471117 PMID:31862442 PMID:32053901 PMID:32065942 PMID:32337335 PMID:32403337 PMID:32419263 PMID:32528171 PMID:32860008 PMID:33146414 PMID:33250842 PMID:33481221 PMID:33537799 PMID:33567613 PMID:34167565 PMID:34440373 PMID:35387801 PMID:36575883 PMID:36703223 PMID:36982625 PMID:37091313 PMID:37526466 PMID:37569848 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
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G
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Col6a3
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collagen type VI alpha 3 chain
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ISO
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ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 PMID:9536098 PMID:9724608 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16141002 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24332716 PMID:24518369 PMID:24907562 PMID:25211533 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25987458 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29406609 PMID:29419890 PMID:29894794 PMID:29970176 PMID:30467950 PMID:30564623 PMID:30687093 PMID:30706156 PMID:31044083 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31230720 PMID:31265121 PMID:31345219 PMID:31731261 PMID:31862442 PMID:32037012 PMID:32065942 PMID:32154576 PMID:32343762 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:33879512 PMID:33964895 PMID:34167565 PMID:34418069 PMID:34440373 PMID:35239206 PMID:35487415 PMID:35723357 PMID:35846108 PMID:36498898 PMID:36703223 PMID:36982625 PMID:37023487 PMID:37091313 PMID:37366078 PMID:38374194 PMID:39021299 PMID:39825153 More...
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NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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G
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Cops8
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COP9 signalosome subunit 8
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:98,654,870...98,665,381
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G
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Cops9
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COP9 signalosome subunit 9
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,657,276...100,662,206
Ensembl chr 9:100,657,276...100,662,206
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G
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D2hgdh
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D-2-hydroxyglutarate dehydrogenase
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:101,797,895...101,815,727
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G
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Dtymk
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deoxythymidylate kinase
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:101,762,899...101,774,504
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G
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Dusp28
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dual specificity phosphatase 28
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:93,472,832...93,474,207
Ensembl chr 9:100,920,249...100,921,624
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G
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Erfe
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erythroferrone
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,404,512...99,412,383
Ensembl chr 9:99,404,514...99,412,383
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G
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Espnl
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espin-like
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,358,907...99,385,439
Ensembl chr 9:99,359,578...99,384,342
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G
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Farp2
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FERM, ARH/RhoGEF and pleckstrin domain protein 2
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:101,501,102...101,609,086
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G
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Ftcd
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formimidoyltransferase cyclodeaminase
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 PMID:20976770 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29419890 More...
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NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237
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G
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Gal3st2
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galactose-3-O-sulfotransferase 2
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:94,382,456...94,387,990
Ensembl chr 9:101,823,815...101,836,507
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G
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Gbx2
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gastrulation brain homeobox 2
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:97,957,304...97,959,883
Ensembl chr 9:97,957,304...97,959,883
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G
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Gpc1
|
glypican 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,843,645...100,871,458
Ensembl chr 9:100,843,645...100,879,933
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G
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Gpr35
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G protein-coupled receptor 35
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,974,580...100,995,330
Ensembl chr 9:100,962,538...100,986,985
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G
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Hdac4
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histone deacetylase 4
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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G
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Hdlbp
|
high density lipoprotein binding protein
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379
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G
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Hes6
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hes family bHLH transcription factor 6
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,449,375...99,451,343
Ensembl chr 9:99,449,371...99,451,096
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G
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Ilkap
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ILK associated serine/threonine phosphatase
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:99,413,978...99,436,418
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G
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Ing5
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inhibitor of growth family, member 5
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,772,845...101,793,734
Ensembl chr 9:101,773,724...101,793,728
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G
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Iqca1
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IQ motif containing with AAA domain 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:90,626,735...90,742,563
Ensembl chr 9:98,073,887...98,190,066
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G
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Kif1a
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kinesin family member 1A
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777
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G
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Klhl30
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kelch-like family member 30
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:99,390,014...99,400,295
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G
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Lmna
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lamin A/C
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:20848652 PMID:25741868 PMID:32524016 |
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NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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G
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Lrrfip1
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LRR binding FLII interacting protein 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,039,590...99,167,805
Ensembl chr 9:99,039,614...99,167,779
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G
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Mab21l4
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mab-21 like 4
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:101,138,408...101,147,915
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G
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Mlph
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melanophilin
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:98,955,036...98,990,566
Ensembl chr 9:98,955,141...98,990,556
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G
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Mterf4
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mitochondrial transcription termination factor 4
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,281,560...101,286,236
Ensembl chr 9:101,281,543...101,286,259
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G
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Ndufa10
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NADH:ubiquinone oxidoreductase subunit A10
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:100,437,379...100,489,264
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G
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Neu4
|
neuraminidase 4
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,844,261...101,849,917
Ensembl chr 9:101,844,261...101,849,917
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G
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Or6b2
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olfactory receptor family 6 subfamily B member 2
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,495,938...100,496,876
Ensembl chr 9:100,495,938...100,496,876
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G
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Otos
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otospiralin
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,664,378...100,667,882
Ensembl chr 9:100,664,380...100,665,898
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G
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Pask
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PAS domain containing serine/threonine kinase
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,291,673...101,333,288
Ensembl chr 9:101,291,676...101,332,504
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G
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Pdcd1
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programmed cell death 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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G
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Per2
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period circadian regulator 2
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:99,454,830...99,496,993
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G
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Ppp1r7
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protein phosphatase 1, regulatory subunit 7
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:101,333,497...101,360,959
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G
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Prlh
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prolactin releasing hormone
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:98,991,628...98,996,515
Ensembl chr 9:98,994,163...98,996,515
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G
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Rab17
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RAB17, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,001,044...99,014,340
Ensembl chr 9:99,001,045...99,014,032
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G
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Ramp1
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receptor activity modifying protein 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,213,031...99,263,696
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G
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Rbm44
|
RNA binding motif protein 44
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,178,706...99,204,344
Ensembl chr 9:99,178,741...99,204,338
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G
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Rnpepl1
|
arginyl aminopeptidase like 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:100,921,053...100,933,748
Ensembl chr 9:100,923,856...100,933,485
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G
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Scly
|
selenocysteine lyase
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:99,337,796...99,358,487
Ensembl chr 9:99,327,873...99,358,487
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G
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Septin2
|
septin 2
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,465,535...101,498,766
Ensembl chr 9:101,465,650...101,498,759
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G
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Sned1
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sushi, nidogen and EGF-like domains 1
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 1A
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ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:101,221,530...101,281,401
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G
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Stk25
|
serine/threonine kinase 25
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|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:101,609,218...101,621,458
Ensembl chr 9:101,609,221...101,621,359
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G
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Thap4
|
THAP domain containing 4
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:101,689,935...101,729,656
Ensembl chr 9:101,689,936...101,729,441
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G
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Traf3ip1
|
TRAF3 interacting protein 1
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:99,521,179...99,557,963
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G
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Twist2
|
twist family bHLH transcription factor 2
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:99,818,962...99,920,270
|
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G
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Ube2f
|
ubiquitin-conjugating enzyme E2F (putative)
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:99,293,506...99,328,690
Ensembl chr 9:99,293,515...99,330,479
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G
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Col6a2
|
collagen type VI alpha 2 chain
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ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1B
|
OMIM ClinVar |
PMID:75955 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:19344236 PMID:19884007 PMID:19949035 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:23170014 PMID:24038877 PMID:24271325 PMID:25535305 PMID:25741868 PMID:27159402 PMID:28492532 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31127727 PMID:31471117 PMID:32419263 PMID:32528171 PMID:33567613 PMID:37091313 More...
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NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
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G
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Col6a3
|
collagen type VI alpha 3 chain
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|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1C
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OMIM ClinVar |
PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 PMID:20976770 PMID:25741868 PMID:26004199 PMID:26247046 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30564623 PMID:30706156 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:35239206 More...
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NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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G
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Col12a1
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collagen type XII alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Bethlem myopathy 2
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OMIM ClinVar |
PMID:7642694 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:27975164 PMID:28306225 PMID:28492532 PMID:28973083 PMID:29858556 PMID:31273343 PMID:31509352 PMID:32629534 PMID:35019233 PMID:36936682 PMID:37079061 PMID:37353357 PMID:38174471 PMID:39825153 More...
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NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
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G
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Plod3
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procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
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ISO
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ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related disorder CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:28492532 PMID:30089812 PMID:30237576 PMID:36307859 More...
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NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631
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G
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Fbn2
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fibrillin 2
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis CTD Direct Evidence: marker/mechanism
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ClinVar CTD OMIM RGD |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7606779 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9054436 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9714438 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11536364 PMID:11754102 PMID:12511552 PMID:15121784 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24035709 PMID:24585410 PMID:24833718 PMID:24899048 PMID:25046119 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27196565 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29501612 PMID:29742989 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30029678 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32123317 PMID:32277046 PMID:32381728 PMID:32461654 PMID:32534992 PMID:32702406 PMID:33029862 PMID:33190788 PMID:33243733 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:34355836 PMID:35360850 PMID:35419902 PMID:35583931 PMID:35753512 PMID:35830949 PMID:37342443 PMID:11754102 More...
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RGD:1300364 |
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Nalcn
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sodium leak channel, non-selective
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ISO
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ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
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OMIM ClinVar |
PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:31409833 PMID:32618095 PMID:32668698 PMID:32698188 More...
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NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858
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G
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Fancg
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FA complementation group G
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ISO
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ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
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NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787
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G
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Gas7
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growth arrest specific 7
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,651,690...52,882,244
Ensembl chr10:52,651,690...52,882,244
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G
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Glp2r
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glucagon-like peptide 2 receptor
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,901,707...52,964,961
Ensembl chr10:52,900,706...52,964,961
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G
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Mtmr3
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myotubularin related protein 3
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:25741868 |
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NCBI chr14:79,340,523...79,460,947
Ensembl chr14:83,564,065...83,684,473
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G
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Myh1
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myosin heavy chain 1
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,384,810...52,408,698
Ensembl chr10:52,384,908...52,409,047
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G
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Myh13
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myosin heavy chain 13
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,511,773...52,567,951
Ensembl chr10:52,511,590...52,567,951
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G
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Myh2
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myosin heavy chain 2
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ISO
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ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Inclusion body myopathy autosomal dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:20418530 PMID:22349865 PMID:22406018 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:24948216 PMID:25399751 PMID:25617006 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066573 PMID:28492532 PMID:29590070 PMID:29934118 PMID:30325262 PMID:31127727 PMID:31321302 PMID:31407473 PMID:32578970 PMID:33250842 PMID:34459418 PMID:35239206 PMID:36774715 More...
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NCBI chr10:52,355,739...52,382,235
Ensembl chr10:52,355,739...52,382,235
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G
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Myh3
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myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Myh4
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myosin heavy chain 4
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,422,148...52,445,296
Ensembl chr10:52,421,951...52,445,294
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G
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Myh8
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myosin heavy chain 8
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105
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G
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Rcvrn
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recoverin
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,887,667...52,895,413
Ensembl chr10:52,887,468...52,895,413
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G
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Sco1
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synthesis of cytochrome C oxidase 1
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ISO
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ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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ClinVar |
PMID:28492532 |
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NCBI chr10:52,243,664...52,256,250
Ensembl chr10:52,243,648...52,260,861
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G
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Vcp
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valosin-containing protein
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ISO
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ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
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ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
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NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387
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G
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Chrng
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cholinergic receptor nicotinic gamma subunit
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ISO
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ClinVar Annotator: match by term: CHRNG-associated hypo-akinesia disorder of prenatal onset | ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: Multiple pterygium syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:33060286 PMID:34440395 More...
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NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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G
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Myh3
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myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:28492532 PMID:28779239 PMID:29314551 PMID:29805041 PMID:30008475 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Chrna1
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cholinergic receptor nicotinic alpha 1 subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353
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G
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Chrnd
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cholinergic receptor nicotinic delta subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745
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G
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Chrng
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cholinergic receptor nicotinic gamma subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:23261301 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30287924 PMID:30868735 PMID:31230720 PMID:31354645 PMID:31680349 PMID:32901917 PMID:33060286 PMID:33820833 PMID:34008892 PMID:34440395 PMID:35904974 More...
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NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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G
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Myh3
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myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B
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OMIM ClinVar |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 PMID:28492532 PMID:28779239 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Erlin2
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ER lipid raft associated 2
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ISO
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ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 PMID:32042907 PMID:32094424 PMID:34734492 PMID:38607533 More...
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:71,721,364...71,736,503
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G
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Scn1a
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sodium voltage-gated channel alpha subunit 1
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ISO
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ClinVar Annotator: match by term: Hip contracture
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ClinVar |
PMID:17561957 PMID:30311386 |
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NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791
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G
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Slc29a3
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solute carrier family 29 member 3
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ISO
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ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 PMID:16650224 PMID:17461801 PMID:17576681 PMID:18410979 PMID:18414213 PMID:18940313 PMID:18947330 PMID:19175903 PMID:19336477 PMID:19889517 PMID:20140240 PMID:20199539 PMID:20595384 PMID:20619369 PMID:21178579 PMID:21888995 PMID:22238637 PMID:22653152 PMID:22679148 PMID:22875837 PMID:22989030 PMID:23406517 PMID:23530176 PMID:23789599 PMID:24172204 PMID:24894595 PMID:25741868 PMID:25963354 PMID:25967258 PMID:26074390 PMID:27143505 PMID:27215564 PMID:27364927 PMID:28492532 PMID:28554179 PMID:28729424 PMID:29041934 PMID:29751792 PMID:29808591 PMID:30537558 PMID:30783801 PMID:31276222 PMID:31464584 PMID:32151906 PMID:33837634 PMID:33947670 PMID:34657628 PMID:37529453 More...
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NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299
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G
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Nfatc2
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nuclear factor of activated T-cells 2
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ISO
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ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma
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OMIM ClinVar |
PMID:25741868 PMID:35789258 |
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NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:177,618,314...177,747,380
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G
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Pip5k1c
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phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
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ISO
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ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417 |
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NCBI chr 7:9,048,135...9,076,751
Ensembl chr 7:9,048,146...9,076,716
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G
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Piezo2
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piezo-type mechanosensitive ion channel component 2
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ISO
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ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 PMID:33422128 More...
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NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
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G
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Alpg
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alkaline phosphatase, germ cell
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:95,198,334...95,205,742
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G
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Alpi
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alkaline phosphatase, intestinal
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780
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G
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Alpp
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alkaline phosphatase, placental
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:95,213,374...95,219,451
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G
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Chrna1
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cholinergic receptor nicotinic alpha 1 subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24033266 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
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NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353
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G
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Chrnd
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cholinergic receptor nicotinic delta subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:33820833 PMID:34791078 PMID:36733345 More...
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NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745
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G
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Chrng
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cholinergic receptor nicotinic gamma subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31680349 PMID:32536119 PMID:32901917 PMID:33060286 PMID:33820833 PMID:34008892 PMID:34440395 PMID:35904974 More...
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NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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G
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Dis3l2
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DIS3-like 3'-5' exoribonuclease 2
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
|
ClinVar |
PMID:28492532 |
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NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522
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G
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Ecel1
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endothelin converting enzyme-like 1
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ISO
|
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575
|
|
G
|
Prss56
|
serine protease 56
|
|
ISO
|
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877
|
|
|
G
|
Fst
|
follistatin
|
|
ISS
|
OMIM:275210
|
MouseDO |
|
|
NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar Annotator: match by term: Restrictive dermopathy
|
ClinVar |
PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 PMID:9536098 PMID:10080180 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11503164 PMID:11792809 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14615128 PMID:14684700 PMID:14749366 PMID:15140538 PMID:15475483 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16364671 PMID:16415042 PMID:17334235 PMID:17377071 PMID:17576681 PMID:17893350 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18728124 PMID:18795223 PMID:19011997 PMID:19201734 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19859838 PMID:20130076 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21270786 PMID:21846512 PMID:22326558 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23313286 PMID:23328570 PMID:23427149 PMID:23702046 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:25163546 PMID:25214167 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26392352 PMID:26404900 PMID:26467025 PMID:26602028 PMID:26662654 PMID:26752647 PMID:26900797 PMID:27332903 PMID:27498076 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27813223 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27919367 PMID:27981572 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28790152 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29557732 PMID:29693488 PMID:29791652 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30107846 PMID:30165155 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30420677 PMID:30564623 PMID:30847666 PMID:30919684 PMID:31194872 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31744510 PMID:31836692 PMID:31857427 PMID:31980526 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32818388 PMID:32826072 PMID:32880476 PMID:33407844 PMID:33500567 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33893211 PMID:34340952 PMID:34495297 PMID:34720847 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35533453 PMID:35772917 PMID:36397776 PMID:37198425 PMID:37349538 PMID:37624850 PMID:37639473 PMID:37652022 PMID:37679847 PMID:38689299 PMID:38757491 PMID:38979608 More...
|
|
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
|
|
G
|
Slc27a4
|
solute carrier family 27 member 4
|
|
ISS
|
OMIM:275210
|
MouseDO |
|
|
NCBI chr 3:33,472,903...33,485,824
Ensembl chr 3:33,472,903...33,485,824
|
|
G
|
Zmpste24
|
zinc metallopeptidase STE24
|
|
ISO
|
DNA:duplication:exon:c.591dupT (human) ClinVar Annotator: match by term: Lethal tight skin contracture syndrome CTD Direct Evidence: marker/mechanism
|
ClinVar CTD RGD |
PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 PMID:16297189 PMID:17576681 PMID:18414213 PMID:18671782 PMID:19020898 PMID:19504603 PMID:19680556 PMID:20034068 PMID:20101687 PMID:20635340 PMID:21108632 PMID:21488301 PMID:21831885 PMID:22495976 PMID:22718200 PMID:22981120 PMID:24169522 PMID:25629449 PMID:25741868 PMID:26379196 PMID:28492532 PMID:16297189 More...
|
RGD:10043097 |
NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532
|
|
|
G
|
Zmpste24
|
zinc metallopeptidase STE24
|
|
ISO
|
ClinVar Annotator: match by term: Restrictive dermopathy 1 | ClinVar Annotator: match by term: ZMPSTE24-related disorder
|
OMIM ClinVar |
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:16297189 PMID:19020898 PMID:20034068 PMID:20635340 PMID:21108632 PMID:21831885 PMID:22495976 PMID:22718200 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532 PMID:36386051 More...
|
|
NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532
|
|
|
G
|
Lmna
|
lamin A/C
|
|
ISO
|
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2
|
OMIM ClinVar |
PMID:2270059 PMID:2733290 PMID:4740717 PMID:8619549 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10814726 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12075506 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12788894 PMID:12920062 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15184648 PMID:15219508 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15843404 PMID:15965218 PMID:15982412 PMID:16046620 PMID:16126733 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16671095 PMID:16705075 PMID:16715312 PMID:16738054 PMID:16809772 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17987279 PMID:18035086 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18646565 PMID:18795223 PMID:18808171 PMID:18926329 PMID:19172989 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20580717 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21251803 PMID:21400569 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21738662 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22148005 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22431096 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22761994 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23062543 PMID:23141186 PMID:23142632 PMID:23183350 PMID:23299917 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24305605 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24794538 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25210889 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25617006 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25793944 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25946677 PMID:26027246 PMID:26084686 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26498160 PMID:26573435 PMID:26662654 PMID:26670336 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26756202 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27182706 PMID:27220833 PMID:27332903 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27845687 PMID:27884249 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28425981 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878338 PMID:28878402 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29253866 PMID:29255176 PMID:29431110 PMID:29438482 PMID:29540472 PMID:29551499 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29895224 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30122538 PMID:30137533 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30615648 PMID:30665423 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30911407 PMID:30919684 PMID:31006814 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31428229 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32297714 PMID:32376792 PMID:32413188 PMID:32456328 PMID:32461654 PMID:32508047 PMID:32517491 PMID:32616434 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32880476 PMID:32913962 PMID:32939435 PMID:32943904 PMID:33038109 PMID:33258288 PMID:33304817 PMID:33336002 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34240052 PMID:34363016 PMID:34495297 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34872044 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35384599 PMID:35449878 PMID:35526016 PMID:35535697 PMID:35653365 PMID:35772917 PMID:35898701 PMID:36264615 PMID:36267857 PMID:36293084 PMID:36299226 PMID:36389384 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36732629 PMID:36788754 PMID:36971006 PMID:36975868 PMID:37198425 PMID:37246508 PMID:37589201 PMID:37624850 PMID:37639473 PMID:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38048861 PMID:38247853 PMID:38254962 PMID:38473809 PMID:38489124 PMID:38630155 PMID:38689299 PMID:38691546 PMID:38979608 More...
|
|
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
|
|
|
G
|
Fbn1
|
fibrillin 1
|
|
ISO
|
ClinVar Annotator: match by term: Stiff skin syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:1852208 PMID:2005308 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8941093 PMID:8988160 PMID:9016526 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10647894 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12700307 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:15983637 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16845272 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20224973 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21270786 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24504995 PMID:24564502 PMID:24698609 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25613431 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27323140 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:27981572 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29198452 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30086531 PMID:30115950 PMID:30341550 PMID:30393980 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31019026 PMID:31020005 PMID:31098894 PMID:31131229 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31447099 PMID:31506931 PMID:31536524 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31741853 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32277046 PMID:32381728 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33100332 PMID:33174221 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33775534 PMID:33824467 PMID:33844962 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34426522 PMID:34456093 PMID:34498425 PMID:34550612 PMID:34653508 PMID:34818515 PMID:34906192 PMID:35042684 PMID:35058154 PMID:35234813 PMID:35531120 PMID:35535697 PMID:35753512 PMID:35877578 PMID:35943490 PMID:36307044 PMID:36517271 PMID:36670079 PMID:36729443 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37558401 PMID:37605180 PMID:37684520 PMID:37840311 PMID:37904629 PMID:38190127 PMID:38534782 PMID:38665719 PMID:38843839 PMID:38958128 PMID:38958168 PMID:38978874 More...
|
|
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
|
|
|
G
|
Scarf2
|
scavenger receptor class F, member 2
|
|
ISO
|
ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 PMID:28492532 PMID:33783941 PMID:35256560 More...
|
|
NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626
|
|
|
G
|
Ddr2
|
discoidin domain receptor tyrosine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Warburg-cinotti syndrome
|
OMIM ClinVar |
PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 PMID:35221872 More...
|
|
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:84,731,180...84,850,288
|
|
|
G
|
Ccnh
|
cyclin H
|
|
ISO
|
ClinVar Annotator: match by term: Wieacker-Wolff syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:17,570,263...17,614,860
|
|
G
|
Rasa1
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RAS p21 protein activator 1
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ISO
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ClinVar Annotator: match by term: Wieacker-Wolff syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:17,593,136...17,676,161
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G
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Zc4h2
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zinc finger C4H2-type containing
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ISO
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ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 PMID:38703036 PMID:39032379 More...
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NCBI chr X:64,525,725...64,556,037
Ensembl chr X:64,535,241...64,556,042
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G
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Arid1b
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AT-rich interaction domain 1B
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ISO
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ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
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ClinVar |
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NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793
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G
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Chd7
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chromodomain helicase DNA binding protein 7
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ISO
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ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
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ClinVar |
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734
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G
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Kmt2a
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lysine methyltransferase 2A
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ISO
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ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
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OMIM ClinVar |
PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25574841 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26544196 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28120103 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29276005 PMID:29276034 PMID:29453417 PMID:29574747 PMID:29758562 PMID:30305169 PMID:30315573 PMID:30549396 PMID:31044088 PMID:31157197 PMID:31337854 PMID:31785789 PMID:32860008 PMID:33004838 PMID:33043602 PMID:33783954 PMID:35163737 PMID:35904121 PMID:36479909 PMID:37025457 PMID:38177409 PMID:39825153 More...
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NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317
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G
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Smc1a
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structural maintenance of chromosomes 1A
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ISO
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ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
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ClinVar |
PMID:25574841 |
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NCBI chr X:24,582,732...24,627,462
Ensembl chr X:24,582,690...24,627,462
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G
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Mmp14
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matrix metallopeptidase 14
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ISO
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ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:4238825 PMID:9536098 PMID:17480005 PMID:17576681 PMID:22922033 PMID:25741868 PMID:28492532 PMID:29741626 More...
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NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893
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G
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Emd
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emerin
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ISO
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ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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OMIM ClinVar |
PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9195226 PMID:9266737 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098 PMID:10220866 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10480214 PMID:11385714 PMID:12872622 PMID:15009215 PMID:15967842 PMID:16080119 PMID:16199547 PMID:17067998 PMID:17355552 PMID:17576681 PMID:17620497 PMID:18646565 PMID:19377476 PMID:19997654 PMID:20474083 PMID:21496632 PMID:21520333 PMID:21697856 PMID:21993399 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24375709 PMID:24503780 PMID:25030574 PMID:25210889 PMID:25741868 PMID:26187847 PMID:26247046 PMID:26415001 PMID:26467025 PMID:26675233 PMID:26820365 PMID:26899768 PMID:28492532 PMID:29349559 PMID:29961767 PMID:30079154 PMID:30086531 PMID:30763825 PMID:30847666 PMID:31024910 PMID:31185657 PMID:31474437 PMID:31475473 PMID:31645980 PMID:31718017 PMID:32549231 PMID:32600061 PMID:32860008 PMID:32880476 PMID:34026875 PMID:34524739 PMID:37198425 PMID:38337354 PMID:38673666 More...
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NCBI chr X:157,190,438...157,193,479
Ensembl chr X:157,189,819...157,197,095
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G
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Lmna
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lamin A/C
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ISO
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ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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ClinVar |
PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 PMID:12376891 PMID:12467752 PMID:12628721 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:15140538 PMID:15372542 PMID:15475483 PMID:15843404 PMID:15998779 PMID:16174718 PMID:16584978 PMID:17107595 PMID:17334235 PMID:17377071 PMID:17576681 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18795223 PMID:18808171 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19638735 PMID:19680556 PMID:20848652 PMID:21400569 PMID:22326558 PMID:22761994 PMID:23702046 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24794538 PMID:25210889 PMID:25214167 PMID:25351510 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26602028 PMID:27332903 PMID:27506821 PMID:27532257 PMID:27813223 PMID:27884249 PMID:27896052 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28790152 PMID:29237675 PMID:29255176 PMID:29693488 PMID:29952368 PMID:30326651 PMID:30402260 PMID:30420677 PMID:30847666 PMID:31383942 PMID:31428229 PMID:31744510 PMID:31980526 PMID:32041611 PMID:32376792 PMID:32698523 PMID:32727917 PMID:32793522 PMID:32818388 PMID:32880476 PMID:33407844 PMID:33893211 PMID:34240052 PMID:34999423 PMID:35533453 PMID:37198425 PMID:37904629 PMID:38247853 More...
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NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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G
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Sun1
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Sad1 and UNC84 domain containing 1
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ISO
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ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:20,510,230...20,555,123
Ensembl chr12:20,490,861...20,555,240
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G
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Syne1
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spectrin repeat containing nuclear envelope protein 1
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ISO
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ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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ClinVar |
PMID:28492532 |
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NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721
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