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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:4126124 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ampd1 |
adenosine monophosphate deaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11102975 PMID:18380285 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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G |
Arg1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
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NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Clu |
clusterin |
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ISO |
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RGD |
PMID:15912881 |
RGD:1626306 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
variable myopathy, R503C CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18380285 PMID:10873395 |
RGD:734814 |
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Crppa |
CDP-L-ribitol pyrophosphorylase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22522421 |
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7543699 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Ctsb |
cathepsin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7099197 |
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NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Skeletal muscle disease |
ClinVar |
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 More...
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21239484 |
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NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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G |
Fabp3 |
fatty acid binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18308699 |
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NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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G |
Gfpt1 |
glutamine fructose-6-phosphate transaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29905857 |
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NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
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G |
Hint1 |
histidine triad nucleotide binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22961002 |
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NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23953224 PMID:21360500 |
RGD:5508448 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Htr3b |
5-hydroxytryptamine receptor 3B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17600820 |
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NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444
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G |
Htr7 |
5-hydroxytryptamine receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17600820 |
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NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9184656 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:496411 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Itga7 |
integrin subunit alpha 7 |
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ISO |
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RGD |
PMID:9590299 |
RGD:1600024 |
NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
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G |
Lpl |
lipoprotein lipase |
|
ISO |
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RGD |
PMID:7635990 |
RGD:1302535 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15946989 |
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Megf10 |
multiple EGF-like domains 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22101682 |
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NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
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G |
Micu1 |
mitochondrial calcium uptake 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24336167 |
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NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19683050 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Prkcd |
protein kinase C, delta |
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IEP |
associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle |
RGD |
PMID:9458880 |
RGD:1642535 |
NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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G |
Pygm |
glycogen phosphorylase, muscle associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18380285 |
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NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9668287 |
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NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Skeletal muscle disease |
ClinVar |
PMID:28384794 PMID:28492532 |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158539 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Sox6 |
SRY-box transcription factor 6 |
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ISO |
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RGD |
PMID:10760285 |
RGD:1580857 |
NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21152098 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19628585 |
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NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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G |
Ttn |
titin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15802564 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Tubg1 |
tubulin, gamma 1 |
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ISO |
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RGD |
PMID:15912881 |
RGD:1626306 |
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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G |
Xdh |
xanthine dehydrogenase |
treatment |
IEP |
|
RGD |
PMID:9789800 |
RGD:13209133 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency |
OMIM ClinVar |
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 PMID:30626930 PMID:30887117 PMID:31901042 More...
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NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
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G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency |
OMIM ClinVar |
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:19706617 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25381946 PMID:25382614 PMID:25741868 PMID:26566957 PMID:26589311 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 PMID:29767664 PMID:30510438 PMID:30626930 PMID:32778825 PMID:33423264 More...
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NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
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G |
Mccc1 |
methylcrotonyl-CoA carboxylase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 More...
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NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
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G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 PMID:30510438 PMID:32778825 More...
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NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Actin accumulation myopathy | ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments |
ClinVar |
PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 PMID:10508519 PMID:10528865 PMID:11333380 PMID:11525890 PMID:12921789 PMID:14733965 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 PMID:17187373 PMID:17227580 PMID:17387733 PMID:17576681 PMID:17705262 PMID:18059071 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22095987 PMID:22442437 PMID:22825594 PMID:23102861 PMID:23294764 PMID:23305948 PMID:23394784 PMID:23650303 PMID:23757202 PMID:24033266 PMID:24356988 PMID:24642510 PMID:24787270 PMID:24852243 PMID:25182138 PMID:25214167 PMID:25326635 PMID:25470062 PMID:25525159 PMID:25635128 PMID:25741868 PMID:25747004 PMID:25938801 PMID:26172852 PMID:26337181 PMID:26436962 PMID:26467025 PMID:27357517 PMID:27447704 PMID:27854218 PMID:28256728 PMID:28357410 PMID:28416349 PMID:28492532 PMID:28606400 PMID:29172004 PMID:29274205 PMID:29288010 PMID:29792937 PMID:30253894 PMID:30354303 PMID:30732915 PMID:30792901 PMID:32989108 More...
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NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Actin accumulation myopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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G |
Rif1 |
replication timing regulatory factor 1 |
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ISO |
ClinVar Annotator: match by term: Actin accumulation myopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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G |
Lpin1 |
lipin 1 |
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ISO |
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive |
OMIM ClinVar |
PMID:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aggressive fibromatosis |
CTD ClinVar |
PMID:8162051 PMID:11816139 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 PMID:20685668 PMID:21643010 PMID:21779980 PMID:22987206 PMID:23757202 PMID:25741868 PMID:28492532 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:19366727 |
RGD:2314525 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:17160433 |
RGD:13208596 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM |
OMIM ClinVar |
PMID:22865833 PMID:25741868 PMID:26607181 PMID:30006060 PMID:32860008 |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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IEP |
|
RGD |
PMID:14506614 |
RGD:1581765 |
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy |
OMIM ClinVar |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 PMID:15980113 PMID:18187543 PMID:18398436 PMID:18414213 PMID:20083155 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 PMID:30369548 PMID:31410843 PMID:31690835 PMID:33847015 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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G |
Aqp4 |
aquaporin 4 |
|
ISO |
|
RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Edar |
ectodysplasin-A receptor |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO IAGP |
DNA:mutations:cds: ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy DNA:missense mutation:cds:p.P1073L (3218C>T) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: |
ClinVar CTD OMIM RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2725645 PMID:7847370 PMID:8884268 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23430898 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30951992 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32502631 PMID:32703289 PMID:33469851 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34194468 PMID:34782754 PMID:35307828 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
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RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 PMID:25429852 PMID:28492532 More...
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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Foxo1 |
forkhead box O1 |
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ISO |
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OMIM |
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NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Pax3 |
paired box 3 |
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ISO |
DNA:translocations: (human) ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
ClinVar OMIM RGD |
PMID:24033266 PMID:25741868 PMID:15313887 |
RGD:1580944 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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Pax7 |
paired box 7 |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
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NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979
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Tp73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Wwtr1 |
WW domain containing transcription regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
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OMIM |
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NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904
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RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DQA1*0501; DNA:polymorphism (human) |
RGD |
PMID:18671865 PMID:8666549 PMID:15067086 |
RGD:5147790, RGD:8547569, RGD:5147796 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Matr3 |
matrin 3 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 |
OMIM ClinVar |
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28029397 PMID:28166811 PMID:28492532 PMID:29109432 PMID:29525178 PMID:30015619 PMID:30563574 PMID:31019288 More...
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NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
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OMIM |
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NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Il1b |
interleukin 1 beta |
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ISO |
ClinVar Annotator: match by term: Antisynthetase syndrome |
ClinVar |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190753 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Adgrg6 |
adhesion G protein-coupled receptor G6 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:26004201 PMID:26752647 |
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NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
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Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16826520 PMID:16826531 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31694722 |
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NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628313 |
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28317099 PMID:31230720 |
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NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
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Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh8 |
myosin heavy chain 8 |
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ISO |
Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q |
RGD |
PMID:15282353 |
RGD:1600548 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23826317 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:28818389 PMID:30652412 PMID:31407473 PMID:31680123 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20220177 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 More...
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Slc35a3 |
solute carrier family 35 member A3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
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Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
DNA:mutation:splice junction: |
RGD |
PMID:19542096 |
RGD:13209012 |
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Tnni2 |
troponin I2, fast skeletal type |
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ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar RGD |
PMID:25741868 PMID:12592607 |
RGD:1599481 |
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:12865991 |
RGD:1599490 |
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
OMIM ClinVar |
PMID:9536098 PMID:10051637 PMID:12207937 PMID:15221447 PMID:17576681 PMID:19232495 PMID:19346529 PMID:21798101 PMID:22183965 PMID:22367672 PMID:23572184 PMID:24033266 PMID:25079567 PMID:25205138 PMID:25205148 PMID:25741868 PMID:25741874 PMID:26403434 PMID:26467025 PMID:26578207 PMID:26841830 PMID:27933661 PMID:28336317 PMID:28492532 PMID:29274205 PMID:32222963 PMID:32721234 PMID:33376055 More...
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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Rif1 |
replication timing regulatory factor 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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Lgi4 |
leucine-rich repeat LGI family, member 4 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
OMIM ClinVar |
PMID:25741868 PMID:28318499 PMID:32860008 |
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NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
ClinVar |
PMID:25741868 PMID:27782104 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
OMIM ClinVar |
PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 PMID:27086870 PMID:27178001 PMID:27782104 PMID:28492532 More...
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NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Scyl2 |
SCY1 like pseudokinase 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:31960134 |
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NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305
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Tor1a |
torsin family 1, member A |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 |
OMIM ClinVar |
PMID:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 PMID:34008892 More...
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NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:29432562 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
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ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
ClinVar |
PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 |
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NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
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Slc35a3 |
solute carrier family 35 member A3 |
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ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 More...
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NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
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G |
Nek9 |
NIMA-related kinase 9 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:28492532 |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 More...
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation |
ClinVar |
PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 |
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Dnm2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy |
ClinVar |
PMID:2734399 PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:19623537 PMID:19932619 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:27698851 PMID:27854218 PMID:28492532 PMID:28676641 PMID:30103202 PMID:32860008 PMID:34008892 More...
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NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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G |
Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860
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G |
Mtmr14 |
myotubularin related protein 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF |
ClinVar |
PMID:17008356 PMID:25741868 PMID:28492532 |
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NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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G |
Myf6 |
myogenic factor 6 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy |
ClinVar |
PMID:11053684 PMID:25741868 PMID:28492532 |
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NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852
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G |
Myod1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy |
ClinVar |
PMID:31260566 |
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NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar OMIM RGD |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:11326272 More...
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RGD:734571 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:28492532 More...
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Lmna |
lamin A/C |
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ISO |
DNA:missense mutations, nonsense mutation:cds:multiple (human) ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B DNA:frameshift mutation:cds:c.625_626delA (human) DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human) |
ClinVar OMIM RGD |
PMID:1839274 PMID:10080180 PMID:10580070 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11561226 PMID:11731280 PMID:12032588 PMID:12649505 PMID:12920062 PMID:14684700 PMID:14749366 PMID:15140538 PMID:15372542 PMID:15475483 PMID:15744034 PMID:15998779 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20160190 PMID:20848652 PMID:20980393 PMID:21173262 PMID:21632249 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22431096 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23183350 PMID:23427149 PMID:23582089 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24846508 PMID:25214167 PMID:25637381 PMID:25741868 PMID:25948554 PMID:25987458 PMID:26332594 PMID:26467025 PMID:26602028 PMID:27374873 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:28688748 PMID:28785654 PMID:29057633 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31383942 PMID:31829210 PMID:32041611 PMID:10080180 PMID:17446932 PMID:17701980 PMID:10814726 More...
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RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 PMID:21572417 PMID:21701589 PMID:22162184 PMID:22287014 PMID:23352163 PMID:23959263 PMID:24123366 PMID:24123876 PMID:24319099 PMID:24388756 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25976027 PMID:26302956 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27060904 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28750076 PMID:29625556 PMID:29961767 PMID:30029642 PMID:30119932 PMID:30275942 PMID:30564623 PMID:30610203 PMID:31230720 PMID:31692161 PMID:32038460 More...
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NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Syne2 |
spectrin repeat containing nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 PMID:22995991 PMID:25179549 PMID:25214167 PMID:25587064 PMID:25741868 PMID:26094658 PMID:26467025 PMID:27632638 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:30755392 PMID:31829210 More...
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NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant |
OMIM ClinVar |
PMID:18313022 PMID:18414213 PMID:21391237 PMID:21636032 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT |
ClinVar |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT DNA:missense mutation: :p.R1845W (23014C>T) (human) |
OMIM ClinVar RGD |
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:2136805 PMID:3203908 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:7883988 PMID:7909436 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8533830 PMID:8614836 PMID:8981935 PMID:9105042 PMID:9140839 PMID:9536098 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:10900182 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12379228 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12974739 PMID:12975413 PMID:14520662 PMID:15010274 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15699387 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16754800 PMID:16858239 PMID:16918501 PMID:17097032 PMID:17118657 PMID:17125710 PMID:17336526 PMID:17372140 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17576681 PMID:17612745 PMID:17947214 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19651039 PMID:19666645 PMID:19808347 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20086309 PMID:20350521 PMID:20359594 PMID:20376763 PMID:20474083 PMID:20513729 PMID:20530761 PMID:20624503 PMID:20664766 PMID:20733148 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20975235 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21499742 PMID:21511876 PMID:21750094 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22918376 PMID:22958901 PMID:22975586 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24038877 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24758099 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25935763 PMID:25937619 PMID:26220970 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27930701 PMID:27974200 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28241245 PMID:28265379 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28807990 PMID:28878402 PMID:29121657 PMID:29212898 PMID:29300372 PMID:29907873 PMID:30217213 PMID:30291343 PMID:30297972 PMID:30403391 PMID:30511546 PMID:30731207 PMID:30755392 PMID:30775854 PMID:30847666 PMID:30871747 PMID:30924982 PMID:31006259 PMID:31110529 PMID:31199839 PMID:31333075 PMID:31447099 PMID:31493341 PMID:31513939 PMID:31568572 PMID:31589614 PMID:31737537 PMID:31931472 PMID:32233023 PMID:32284968 PMID:33297573 PMID:33673806 PMID:34008892 PMID:34540771 PMID:14520662 More...
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RGD:12792959 |
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Dnajb6 |
DnaJ heat shock protein family (Hsp40) member B6 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D |
OMIM ClinVar |
PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 PMID:20682716 PMID:21376592 PMID:22334415 PMID:22366786 PMID:24033266 PMID:24594375 PMID:24920671 PMID:25214167 PMID:25741868 PMID:26205529 PMID:26338452 PMID:26371419 PMID:26467025 PMID:26847086 PMID:27642634 PMID:27671536 PMID:28166811 PMID:28233300 PMID:28422763 PMID:28492532 PMID:28794355 PMID:28973549 PMID:29970176 PMID:30564623 PMID:31034989 PMID:31955980 More...
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NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
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G |
Atp6v1f |
ATPase H+ transporting V1 subunit F |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F |
ClinVar |
PMID:28492532 |
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NCBI chr 4:58,067,666...58,070,628
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G |
Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F |
ClinVar |
PMID:28492532 |
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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G |
Irf5 |
interferon regulatory factor 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F |
ClinVar |
PMID:28492532 |
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NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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G |
Kcp |
kielin cysteine rich BMP regulator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F |
ClinVar |
PMID:28492532 |
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NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768
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G |
Tnpo3 |
transportin 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F |
OMIM ClinVar |
PMID:9536098 PMID:11222786 PMID:17576681 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:31071488 PMID:31217819 More...
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NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433
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G |
Hnrnpdl |
heterogeneous nuclear ribonucleoprotein D-like |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G |
OMIM ClinVar |
PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 PMID:28492532 More...
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NCBI chr14:9,558,079...9,563,654
Ensembl chr14:9,557,425...9,562,506
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G |
Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 |
OMIM ClinVar |
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9536098 PMID:9642272 PMID:9762961 PMID:9777948 PMID:10102422 PMID:10330340 PMID:10679950 PMID:11371436 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16542520 PMID:16627476 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17526799 PMID:17576681 PMID:17702496 PMID:17994539 PMID:18055493 PMID:18073330 PMID:18334579 PMID:18414213 PMID:18563459 PMID:18854869 PMID:19015733 PMID:19048948 PMID:19156839 PMID:19226146 PMID:19556129 PMID:19835634 PMID:20635405 PMID:20694146 PMID:21204801 PMID:21984748 PMID:22006685 PMID:22378277 PMID:22443334 PMID:24033266 PMID:25079074 PMID:25135358 PMID:25252031 PMID:25326637 PMID:25512505 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26632398 PMID:26677118 PMID:26886200 PMID:27055500 PMID:27066545 PMID:27142102 PMID:27259757 PMID:27708273 PMID:27818383 PMID:28492532 PMID:28602176 PMID:28881388 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 PMID:31931849 PMID:32528171 More...
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 PMID:7847370 PMID:9536098 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17310215 PMID:17418573 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29992832 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30936349 PMID:31147703 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32234506 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
OMIM ClinVar |
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:26467025 PMID:27693233 PMID:28492532 More...
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
OMIM ClinVar |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31271879 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28078310 PMID:28492532 PMID:29625556 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28078310 PMID:28492532 PMID:29625556 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM ClinVar |
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 PMID:28812649 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Dna2 |
DNA replication helicase/nuclease 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy |
OMIM ClinVar |
PMID:23352259 PMID:25741868 PMID:28492532 |
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NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319
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G |
Bin1 |
bridging integrator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263
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G |
Speg |
striated muscle enriched protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive |
OMIM ClinVar |
PMID:2007407 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11136544 PMID:11561226 PMID:11792809 PMID:12524233 PMID:12647844 PMID:12927424 PMID:16181372 PMID:16364671 PMID:16415042 PMID:17893350 PMID:18414213 PMID:18585512 PMID:18606848 PMID:18728124 PMID:18795223 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19859838 PMID:20130076 PMID:20160190 PMID:20625965 PMID:22224630 PMID:22266370 PMID:22431096 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23582089 PMID:23853504 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24846508 PMID:25637381 PMID:25741868 PMID:26662654 PMID:27374873 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:28641778 PMID:28679633 PMID:28688748 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31829210 PMID:31836692 PMID:32041611 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive |
OMIM ClinVar |
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:14659406 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17372140 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19336582 PMID:19666645 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20513729 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:22958901 PMID:22975586 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24038877 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24183960 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26468400 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27600940 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28125727 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28771489 PMID:28790153 PMID:28807990 PMID:28973424 PMID:29121657 PMID:29212898 PMID:29300372 PMID:29907873 PMID:30217213 PMID:30291343 PMID:30297972 PMID:30511546 PMID:30731207 PMID:30755392 PMID:30847666 PMID:30924982 PMID:31006259 PMID:31110529 PMID:31199839 PMID:31333075 PMID:31447099 PMID:31493341 PMID:31513939 PMID:31568572 PMID:31589614 PMID:31737537 PMID:31931472 PMID:32233023 PMID:32284968 PMID:33297573 PMID:33673806 PMID:34540771 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G |
Astn2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
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NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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G |
Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:11053681 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17318636 PMID:17562833 PMID:17702496 PMID:17994539 PMID:18055493 PMID:18337726 PMID:18414213 PMID:18563459 PMID:18854868 PMID:18854869 PMID:19015733 PMID:19226146 PMID:19556129 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:22378277 PMID:22443334 PMID:22926650 PMID:23169433 PMID:24033266 PMID:25046369 PMID:25135358 PMID:25252031 PMID:25741868 PMID:26363099 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26632398 PMID:26810512 PMID:26886200 PMID:27023906 PMID:27055500 PMID:27142102 PMID:27431290 PMID:28492532 PMID:28914264 PMID:30028523 PMID:30564623 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31555977 PMID:31788660 PMID:32528171 PMID:32668095 PMID:33337384 More...
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Dysf |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15827562 PMID:16100712 PMID:17512949 PMID:18832576 PMID:18853459 PMID:19493611 PMID:19528035 PMID:20535123 PMID:20544924 PMID:22213072 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25312915 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27602406 PMID:27666772 PMID:28492532 PMID:30564623 PMID:32400077 PMID:33250842 PMID:33927379 PMID:34906502 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy |
ClinVar |
PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:25802880 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32419263 PMID:34008892 PMID:34653404 More...
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23689641 PMID:23894383 PMID:25390965 PMID:25741868 PMID:26013959 PMID:26467025 PMID:28424332 PMID:28492532 PMID:28688748 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:12369018 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16575835 PMID:16698797 PMID:17559086 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28157257 PMID:28492532 PMID:31311558 More...
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
DNA:missense mutation:exon:p.T184M, (c.551C>T) (human) ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar RGD |
PMID:18414213 PMID:25741868 PMID:27457812 PMID:27854218 PMID:28492532 PMID:29175898 PMID:30060766 PMID:32528171 PMID:33200426 PMID:17923109 More...
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RGD:11532762 |
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Sgca |
sarcoglycan, alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy |
ClinVar |
PMID:9032047 PMID:9192266 PMID:9393893 PMID:9585331 PMID:12746421 PMID:17994539 PMID:18285821 PMID:18421900 PMID:18996010 PMID:22095924 PMID:24033266 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26453141 PMID:28492532 More...
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NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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G |
Sgcb |
sarcoglycan, beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 PMID:9631401 PMID:10993494 PMID:11369190 PMID:12746421 PMID:15032976 PMID:15938573 PMID:17994539 PMID:18285821 PMID:19770540 PMID:22095924 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:28492532 PMID:28889091 PMID:29797799 PMID:30838351 More...
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NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
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G |
Sgcd |
sarcoglycan, delta |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532 More...
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NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
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G |
Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:16199547 PMID:18285821 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:31517061 More...
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Trim32 |
tripartite motif-containing 32 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
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NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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G |
Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23689641 PMID:23894383 PMID:25390965 PMID:25741868 PMID:26013959 PMID:26467025 PMID:28424332 PMID:28492532 PMID:28688748 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:27066507 PMID:28492532 PMID:28822653 PMID:31983221 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Lama2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 |
OMIM ClinVar |
PMID:8957020 PMID:9158149 PMID:9536098 PMID:9541105 PMID:9674786 PMID:10611118 PMID:11369186 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16199547 PMID:17576681 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21922472 PMID:21953594 PMID:22166137 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25332755 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26607181 PMID:26962340 PMID:27353517 PMID:27708273 PMID:27854218 PMID:28492532 PMID:29376585 PMID:30055037 PMID:30373198 PMID:30827497 PMID:32827036 PMID:32904964 More...
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NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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G |
Trappc11 |
trafficking protein particle complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 More...
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NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 |
OMIM ClinVar |
PMID:25741868 PMID:27066570 PMID:28492532 |
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NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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G |
Popdc3 |
popeye domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 |
OMIM ClinVar |
PMID:31610034 |
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NCBI chr20:48,772,382...48,800,364
Ensembl chr20:48,772,462...48,800,593
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G |
Jag2 |
jagged canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 |
OMIM ClinVar |
PMID:25741868 PMID:33861953 |
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NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
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G |
Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Calpainopathy | ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A |
ClinVar OMIM RGD |
PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 PMID:8624690 PMID:9150160 PMID:9246005 PMID:9266733 PMID:9452114 PMID:9536098 PMID:9642272 PMID:9655129 PMID:9762961 PMID:9771675 PMID:9777948 PMID:10102422 PMID:10330340 PMID:10567047 PMID:10679950 PMID:11053681 PMID:11166169 PMID:11245732 PMID:11297944 PMID:11371436 PMID:11525884 PMID:11731278 PMID:12461690 PMID:12890817 PMID:14578192 PMID:14645990 PMID:14959561 PMID:14981715 PMID:15138196 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:15843148 PMID:15884399 PMID:16001438 PMID:16100770 PMID:16141003 PMID:16199547 PMID:16372320 PMID:16411092 PMID:16542520 PMID:16607617 PMID:16627476 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17236769 PMID:17258832 PMID:17318636 PMID:17526799 PMID:17562833 PMID:17576681 PMID:17594342 PMID:17596655 PMID:17702496 PMID:17897828 PMID:17979987 PMID:17994539 PMID:18055493 PMID:18073330 PMID:18258189 PMID:18334579 PMID:18337726 PMID:18414213 PMID:18563459 PMID:18854868 PMID:18854869 PMID:19015733 PMID:19048948 PMID:19156839 PMID:19226146 PMID:19285864 PMID:19364062 PMID:19556129 PMID:19835634 PMID:20044116 PMID:20517216 PMID:20580976 PMID:20635405 PMID:20694146 PMID:21172462 PMID:21204801 PMID:21288883 PMID:21386772 PMID:21520333 PMID:21624972 PMID:21896784 PMID:21984748 PMID:22006685 PMID:22057634 PMID:22079131 PMID:22158424 PMID:22194990 PMID:22378277 PMID:22443334 PMID:22486197 PMID:22505582 PMID:22926650 PMID:23169433 PMID:23553538 PMID:23597518 PMID:23666804 PMID:23677060 PMID:23757202 PMID:23821418 PMID:23864287 PMID:24033266 PMID:24715573 PMID:24803842 PMID:24846670 PMID:25046369 PMID:25079074 PMID:25135358 PMID:25214167 PMID:25215589 PMID:25252031 PMID:25326637 PMID:25512505 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25783436 PMID:25987458 PMID:26060040 PMID:26301378 PMID:26363099 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26501342 PMID:26583491 PMID:26632398 PMID:26677118 PMID:26810512 PMID:26886200 PMID:27011640 PMID:27020652 PMID:27023906 PMID:27055500 PMID:27066545 PMID:27066551 PMID:27066573 PMID:27081656 PMID:27142102 PMID:27234031 PMID:27259757 PMID:27262448 PMID:27363342 PMID:27431290 PMID:27447704 PMID:27500519 PMID:27558075 PMID:27671536 PMID:27708273 PMID:27818383 PMID:27854218 PMID:27884173 PMID:28103310 PMID:28300015 PMID:28403181 PMID:28492532 PMID:28602176 PMID:28877744 PMID:28881388 PMID:28914264 PMID:28915917 PMID:29685414 PMID:29797799 PMID:29970176 PMID:30028523 PMID:30056071 PMID:30107846 PMID:30323756 PMID:30564623 PMID:30919934 PMID:31130284 PMID:31263448 PMID:31268554 PMID:31517061 PMID:31555977 PMID:31788660 PMID:31931849 PMID:31937337 PMID:32140910 PMID:32528171 PMID:32668095 PMID:32896923 PMID:33250842 PMID:33337384 PMID:34008892 PMID:205172126 PMID:10814721 More...
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RGD:734687 |
NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Calpainopathy |
ClinVar |
PMID:25326637 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Calpainopathy |
ClinVar |
PMID:26467025 PMID:27854218 PMID:28492532 |
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NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
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G |
Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B |
ClinVar |
PMID:25741868 PMID:31263448 |
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Dysf |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1483054 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 PMID:9731526 PMID:9731527 PMID:10196377 PMID:10766988 PMID:11053681 PMID:11257469 PMID:11468312 PMID:11532985 PMID:12410383 PMID:12471055 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15477515 PMID:15535137 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16199547 PMID:16606933 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17512949 PMID:17562833 PMID:17576681 PMID:17698709 PMID:17825554 PMID:17828519 PMID:17897828 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18392839 PMID:18832576 PMID:18853459 PMID:19015158 PMID:19084402 PMID:19154541 PMID:19493611 PMID:19528035 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:20981092 PMID:21173544 PMID:21484829 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22213072 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 PMID:22910291 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25135358 PMID:25143362 PMID:25312915 PMID:25326637 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25591678 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25900324 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26444858 PMID:26467025 PMID:26579332 PMID:26671124 PMID:26764160 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27104310 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27363342 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28877744 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:30028523 PMID:30098242 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:30919934 PMID:31268554 PMID:31475473 PMID:32400077 PMID:32419263 PMID:32860008 PMID:33144682 PMID:33250842 PMID:33610434 PMID:33927379 PMID:34559919 PMID:34906502 PMID:35047756 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B |
ClinVar |
PMID:25741868 PMID:31263448 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Vdr |
vitamin D receptor |
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ISO |
protein:increased expression:muscle: |
RGD |
PMID:27558075 |
RGD:13210781 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type |
ClinVar |
PMID:9673983 PMID:18285821 PMID:18398442 PMID:18414213 PMID:18465152 PMID:19031088 PMID:19208398 PMID:19770540 PMID:20876471 PMID:22095924 PMID:24033266 PMID:24180463 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human) |
OMIM ClinVar RGD |
PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9536098 PMID:9658457 PMID:9673983 PMID:9781048 PMID:10447257 PMID:10874299 PMID:10942431 PMID:12040521 PMID:12566530 PMID:14981741 PMID:15322984 PMID:15479193 PMID:16199547 PMID:16832103 PMID:17576681 PMID:18285821 PMID:18398442 PMID:18414213 PMID:18421900 PMID:18465152 PMID:18996010 PMID:19031088 PMID:19167890 PMID:19208398 PMID:19763152 PMID:19770540 PMID:20307669 PMID:20345928 PMID:20623375 PMID:20876471 PMID:22095924 PMID:22240777 PMID:22406018 PMID:23929688 PMID:24033266 PMID:24180463 PMID:24534832 PMID:24552312 PMID:25605665 PMID:25640679 PMID:25741868 PMID:25802879 PMID:26467025 PMID:27708273 PMID:27759885 PMID:28492532 PMID:30564623 PMID:31517061 PMID:32214227 PMID:25802879 More...
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RGD:13605619 |
NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D |
ClinVar |
PMID:25106685 PMID:28492532 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Dag1 |
dystroglycan 1 |
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ISO |
protein:increased degradation:skeletal muscle |
RGD |
PMID:15833425 |
RGD:11073211 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Sarcoglycanopathy |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Sgca |
sarcoglycan, alpha |
treatment |
ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy |
OMIM ClinVar RGD |
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 PMID:8866424 PMID:9032047 PMID:9153448 PMID:9192266 PMID:9266733 PMID:9393893 PMID:9455986 PMID:9536098 PMID:9585331 PMID:10842281 PMID:10942431 PMID:10993494 PMID:11121445 PMID:11475588 PMID:11693784 PMID:12075495 PMID:12566530 PMID:12746421 PMID:14595658 PMID:15298081 PMID:15736300 PMID:15833425 PMID:16199547 PMID:16616845 PMID:16778590 PMID:16787395 PMID:17562833 PMID:17576681 PMID:17994539 PMID:18252745 PMID:18285821 PMID:18414213 PMID:18421900 PMID:18535179 PMID:18996010 PMID:19781108 PMID:19798725 PMID:21031578 PMID:21856579 PMID:22095924 PMID:22303798 PMID:24033266 PMID:24464767 PMID:24565866 PMID:24742800 PMID:25046369 PMID:25106685 PMID:25135358 PMID:25214167 PMID:25741868 PMID:26404900 PMID:26453141 PMID:26467025 PMID:26916285 PMID:26934379 PMID:26944168 PMID:27066551 PMID:27120200 PMID:27363342 PMID:27906075 PMID:28403181 PMID:28492532 PMID:29351619 PMID:29382405 PMID:30107846 PMID:30345904 PMID:30564623 PMID:30703231 PMID:30764848 PMID:30919934 PMID:31066050 PMID:31069529 PMID:31517061 PMID:31931849 PMID:32528171 PMID:17653106 More...
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RGD:13605612 |
NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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G |
Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Sarcoglycanopathy |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D |
ClinVar |
PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:28492532 PMID:29671837 PMID:30744660 More...
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Sgcb |
sarcoglycan, beta |
treatment |
ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy |
OMIM ClinVar RGD |
PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 PMID:9565988 PMID:9631401 PMID:10660328 PMID:10662809 PMID:10874299 PMID:10942431 PMID:10993494 PMID:11166169 PMID:11369190 PMID:12566530 PMID:12746421 PMID:12868499 PMID:15032976 PMID:15938573 PMID:15938574 PMID:16199547 PMID:16524571 PMID:17576681 PMID:17994539 PMID:18285821 PMID:18996010 PMID:19770540 PMID:20071171 PMID:21480868 PMID:22095924 PMID:23349452 PMID:25135358 PMID:25337728 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:26990548 PMID:27671536 PMID:28403181 PMID:28492532 PMID:28687063 PMID:28883879 PMID:28889091 PMID:29797799 PMID:29970176 PMID:30564623 PMID:30838351 PMID:30919934 PMID:31980526 PMID:32528171 PMID:34008892 PMID:28284983 PMID:10678176 More...
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RGD:13605613, RGD:13605614 |
NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
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G |
Sgcd |
sarcoglycan, delta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 PMID:10974018 PMID:12794684 PMID:14564412 PMID:16199547 PMID:16432241 PMID:17164264 PMID:17576681 PMID:17994539 PMID:18285821 PMID:18414213 PMID:19259135 PMID:19770540 PMID:19771157 PMID:20623375 PMID:20675662 PMID:22095924 PMID:22337857 PMID:23695275 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26084686 PMID:26467025 PMID:26498160 PMID:26633542 PMID:26968544 PMID:27532257 PMID:28401079 PMID:28412737 PMID:28492532 PMID:28687063 PMID:31019283 PMID:31983221 More...
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NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
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G |
Tcap |
titin-cap |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G |
OMIM ClinVar |
PMID:10655062 PMID:15582318 PMID:16911908 PMID:18414213 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 PMID:20474083 PMID:21530252 PMID:22194935 PMID:23299917 PMID:23479141 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25055047 PMID:25298746 PMID:25326637 PMID:25741868 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:27618135 PMID:28166811 PMID:28492532 PMID:30871747 PMID:31303467 PMID:32451364 More...
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NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
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G |
Astn2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Sarcotubular myopathy |
ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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G |
Trim32 |
tripartite motif-containing 32 |
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ISO |
ClinVar Annotator: match by term: Sarcotubular myopathy |
OMIM ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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G |
Fkrp |
fukutin related protein |
treatment |
ISO |
DNA:deletion, missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human) DNA:missense mutation:exon:p.L276I (826C>A) (human) DNA:missense mutation: :pP89A (human) DNA:duplications, missense mutations:exon:multiple DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human) DNA:missense mutations: :1364C>A, 1486T>A (human) |
ClinVar OMIM RGD |
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:22983245 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27302555 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30060766 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:32419263 PMID:34008892 PMID:34653404 PMID:11741828 PMID:17994539 PMID:15580560 PMID:17113772 PMID:16634037 PMID:21296577 PMID:18671187 PMID:25048216 More...
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RGD:1598944, RGD:11063285, RGD:11667967, RGD:11667966, RGD:11667965, RGD:11667964, RGD:11667963, RGD:11667961 |
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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G |
Strn4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 |
OMIM ClinVar |
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22475360 PMID:22526018 PMID:22820391 PMID:23033978 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23446887 PMID:23478172 PMID:23486992 PMID:23518707 PMID:23606733 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24011988 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24476948 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24636144 PMID:24667040 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25037085 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25363768 PMID:25447171 PMID:25448463 PMID:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25798586 PMID:25825243 PMID:25889363 PMID:25979592 PMID:26084686 PMID:26272908 PMID:26383259 PMID:26392295 PMID:26395554 PMID:26406308 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26522830 PMID:26559152 PMID:26597493 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26735901 PMID:26773040 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27066551 PMID:27194543 PMID:27273923 PMID:27321809 PMID:27400856 PMID:27418678 PMID:27532257 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27662471 PMID:27788187 PMID:27796757 PMID:27813223 PMID:27843123 PMID:27854218 PMID:27854229 PMID:27863505 PMID:27868399 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28295036 PMID:28403181 PMID:28416588 PMID:28487569 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28606400 PMID:28611029 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28798025 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29029073 PMID:29093449 PMID:29099038 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29382405 PMID:29386531 PMID:29435569 PMID:29447731 PMID:29511324 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29892087 PMID:29961767 PMID:29970176 PMID:29997562 PMID:30086531 PMID:30238059 PMID:30365001 PMID:30371277 PMID:30429050 PMID:30535219 PMID:30609410 PMID:30615648 PMID:30666435 PMID:30724488 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31028938 PMID:31127727 PMID:31215789 PMID:31317183 PMID:31395899 PMID:31481236 PMID:31489791 PMID:31539150 PMID:31589614 PMID:31795264 PMID:31847883 PMID:31983221 PMID:32039858 PMID:32246154 PMID:32403337 PMID:32528171 PMID:32597815 PMID:32659924 PMID:32746448 PMID:32778822 PMID:32815318 PMID:32934002 PMID:33297573 PMID:33333461 PMID:33449170 PMID:34106991 PMID:34135346 PMID:34137518 PMID:34540771 PMID:34918981 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Aif1l |
allograft inflammatory factor 1-like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,229,476...15,254,033
Ensembl chr 3:15,229,524...15,254,023
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G |
Exosc2 |
exosome component 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
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G |
Fam78a |
family with sequence similarity 78, member A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,355,958...15,376,330
Ensembl chr 3:15,355,955...15,373,812
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G |
Fibcd1 |
fibrinogen C domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,092,681...15,126,399
Ensembl chr 3:15,092,681...15,126,399
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G |
Lamc3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Plpp7 |
phospholipid phosphatase 7 (inactive) |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,384,461...15,398,820
Ensembl chr 3:15,384,492...15,398,883
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11 |
OMIM ClinVar |
PMID:9536098 PMID:11053679 PMID:12369018 PMID:14678799 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:19763152 PMID:20307669 PMID:20816175 PMID:21102627 PMID:22323514 PMID:22406018 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27159402 PMID:27193224 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28182637 PMID:28492532 PMID:28556411 PMID:30060766 PMID:30426380 PMID:31311558 PMID:32528171 PMID:32860008 More...
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Prdm12 |
PR/SET domain 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
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G |
Prrc2b |
proline-rich coiled-coil 2B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,433,357...15,519,105
Ensembl chr 3:15,465,294...15,519,104
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G |
Qrfp |
pyroglutamylated RFamide peptide |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,088,045...15,088,419
Ensembl chr 3:15,088,045...15,088,425
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G |
Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L DNA:duplications, nonsense mutation, missense mutation:exon:multiple DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human) DNA:mutations:exon, intron:multiple |
OMIM ClinVar RGD |
PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 PMID:17576681 PMID:18414213 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23169617 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25326637 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:26911675 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28187523 PMID:28492532 PMID:28888072 PMID:30564623 PMID:30919934 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31931849 PMID:32367299 PMID:32419263 PMID:32819793 PMID:34008892 PMID:22742934 PMID:20096397 PMID:23606453 More...
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RGD:11570561, RGD:11570558, RGD:11066746 |
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G |
Fktn |
fukutin |
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ISO |
DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) |
RGD |
PMID:17044012 |
RGD:11576328 |
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13 |
OMIM ClinVar |
PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20620061 PMID:20961758 PMID:21520333 PMID:22275357 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28680109 PMID:30060766 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 |
ClinVar |
PMID:25741868 PMID:27854218 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 |
OMIM ClinVar |
PMID:9536098 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:24002165 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27854218 PMID:28492532 PMID:29175898 PMID:30060766 PMID:32528171 PMID:33200426 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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G |
Lurap1 |
leucine rich adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O |
ClinVar |
PMID:28492532 |
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NCBI chr 5:129,618,926...129,628,651
Ensembl chr 5:129,614,137...129,628,766
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 |
OMIM ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22419172 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33175337 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33175337 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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G |
Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
OMIM ClinVar |
PMID:9536098 PMID:14678799 PMID:15367484 PMID:17576681 PMID:20234391 PMID:21388311 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29036200 PMID:29134705 PMID:29337005 PMID:29485843 PMID:31097590 More...
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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G |
Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
LOC498675 |
hypothetical LOC498675 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
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G |
LOC680045 |
hypothetical protein LOC680045 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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G |
Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Tcta |
T-cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Usp4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:20234391 PMID:28492532 |
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NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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G |
Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 |
OMIM ClinVar |
PMID:9536098 PMID:11851880 PMID:15810881 PMID:17576681 PMID:21109228 PMID:22854623 PMID:23757202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29453417 PMID:30919572 PMID:31319225 PMID:32017015 More...
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Trappc11 |
trafficking protein particle complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26322222 PMID:26467025 PMID:26912795 PMID:27707803 PMID:27862579 PMID:28482373 PMID:28492532 PMID:29158550 PMID:29855340 PMID:31575891 More...
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NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 |
OMIM ClinVar |
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28456886 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30069288 PMID:30257713 PMID:30684953 PMID:34008892 More...
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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G |
Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U |
OMIM ClinVar |
PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868 |
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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G |
Bin1 |
bridging integrator 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263
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G |
Ercc3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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G |
Gpr17 |
G protein-coupled receptor 17 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:23,576,212...23,583,177
Ensembl chr18:23,577,242...23,582,966
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G |
Iws1 |
interacts with SUPT6H, CTD assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172
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G |
Lims2 |
LIM zinc finger domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25589244 PMID:25741868 PMID:28492532 |
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NCBI chr18:23,553,813...23,592,137
Ensembl chr18:23,553,937...23,592,137
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G |
Map3k2 |
mitogen activated protein kinase kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433
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G |
Myo7b |
myosin VIIb |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Bves |
blood vessel epicardial substance |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X |
OMIM ClinVar |
PMID:25741868 PMID:26642364 PMID:31119192 |
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NCBI chr20:48,819,241...48,860,282
Ensembl chr20:48,822,308...48,857,472
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G |
Tor1aip1 |
torsin 1A interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y |
OMIM ClinVar |
PMID:4856141 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24856141 PMID:25193337 PMID:25741868 PMID:27342937 PMID:28492532 More...
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NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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G |
Tor1aip2 |
torsin 1A interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y |
ClinVar |
PMID:24856141 PMID:25193337 |
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NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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G |
Poglut1 |
protein O-glucosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z |
OMIM ClinVar |
PMID:25741868 PMID:27807076 |
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NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:9536098 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30936349 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32234506 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rnaseh1 |
ribonuclease H1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
OMIM ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 |
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NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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G |
Tk2 |
thymidine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
OMIM ClinVar |
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 PMID:21937588 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29602790 More...
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Dguok |
deoxyguanosine kinase |
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ISO |
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
OMIM ClinVar |
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:25741868 PMID:26874653 PMID:28492532 PMID:30956829 PMID:31664448 More...
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NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29290614 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 PMID:28611552 PMID:29100920 PMID:29506241 PMID:30457409 PMID:31529555 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Axial myopathy, late-onset |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type |
OMIM ClinVar |
PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 PMID:1996328 PMID:2677830 PMID:7041906 PMID:7599634 PMID:7599638 PMID:7611292 PMID:7668256 PMID:7849724 PMID:7881286 PMID:7951253 PMID:7981690 PMID:8279470 PMID:8281150 PMID:8301652 PMID:8322822 PMID:8401537 PMID:8504498 PMID:8789442 PMID:8840119 PMID:9067763 PMID:9170407 PMID:9410897 PMID:9536098 PMID:9544849 PMID:9805122 PMID:10094565 PMID:10320864 PMID:10464635 PMID:10533061 PMID:10832829 PMID:10909857 PMID:11039581 PMID:11053684 PMID:11524473 PMID:11710958 PMID:12233050 PMID:12354438 PMID:12359139 PMID:12467752 PMID:12522557 PMID:12632325 PMID:12754707 PMID:13679720 PMID:14659407 PMID:14695533 PMID:14973546 PMID:15253946 PMID:15351422 PMID:15643612 PMID:15655674 PMID:15952989 PMID:16199547 PMID:16566881 PMID:16770791 PMID:16834926 PMID:17041906 PMID:17145200 PMID:17253928 PMID:17259292 PMID:17435279 PMID:17576681 PMID:17726484 PMID:17854090 PMID:17880784 PMID:18583217 PMID:18652600 PMID:18663755 PMID:18846679 PMID:19074751 PMID:19158079 PMID:19206170 PMID:19367636 PMID:19409785 PMID:19449031 PMID:19530190 PMID:19602481 PMID:19760747 PMID:19783145 PMID:19793655 PMID:19937601 PMID:19959795 PMID:20098710 PMID:20485447 PMID:20696926 PMID:21104870 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21520333 PMID:21525508 PMID:21681106 PMID:21969337 PMID:21972111 PMID:22223181 PMID:22678781 PMID:22894145 PMID:22910583 PMID:23251671 PMID:23299917 PMID:23453023 PMID:23536893 PMID:23756440 PMID:23757202 PMID:23871722 PMID:24033266 PMID:24055113 PMID:24265581 PMID:24292997 PMID:24300647 PMID:24349052 PMID:24690944 PMID:25007885 PMID:25163546 PMID:25231023 PMID:25244321 PMID:25333069 PMID:25447171 PMID:25474345 PMID:25525159 PMID:25612904 PMID:25636106 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26046366 PMID:26260725 PMID:26284620 PMID:26350204 PMID:26365249 PMID:26455815 PMID:26467025 PMID:26594346 PMID:26743743 PMID:26911353 PMID:26934379 PMID:26968818 PMID:27122458 PMID:27178005 PMID:27263301 PMID:27593222 PMID:27708273 PMID:27750387 PMID:27896284 PMID:27930565 PMID:28100912 PMID:28116794 PMID:28181471 PMID:28318817 PMID:28416588 PMID:28492532 PMID:28701297 PMID:28750076 PMID:28798025 PMID:28859693 PMID:28878402 PMID:29196072 PMID:29511324 PMID:29581631 PMID:29604111 PMID:29610182 PMID:29641567 PMID:29792937 PMID:29847600 PMID:29874176 PMID:29973226 PMID:30086531 PMID:30564623 PMID:30833962 PMID:31081998 PMID:31333075 PMID:31412794 PMID:31568572 PMID:31648988 PMID:33644936 More...
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type |
ClinVar |
PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 More...
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Snta1 |
syntrophin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
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:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19204719 PMID:19344236 PMID:20301676 PMID:20302629 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:28831785 PMID:29419890 PMID:30564623 PMID:32389683 More...
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
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:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 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:29419890 PMID:30564623 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 PMID:31731261 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Ackr3 |
atypical chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:14673707 PMID:25741868 PMID:28492532 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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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 OMIM RGD |
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:16141002 PMID:16199547 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:21943391 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 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:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28877744 PMID:28984114 PMID:29406609 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156 PMID:30895940 PMID:32065942 PMID:32403337 PMID:32528171 PMID:34008892 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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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 OMIM RGD |
PMID:1788629 PMID:4271325 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:21280092 PMID:21520333 PMID:22075033 PMID:22992134 PMID:23040494 PMID:23138527 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:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28600779 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30564623 PMID:31066050 PMID:31965297 PMID:32403337 PMID:32528171 PMID:32860008 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 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:24332716 PMID:24518369 PMID:24907562 PMID:25211533 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29419890 PMID:29894794 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 PMID:31731261 PMID:32065942 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cops8 |
COP9 signalosome subunit 8 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 2 |
OMIM ClinVar |
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Plod3 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder |
OMIM ClinVar |
PMID:18834968 PMID:25741868 PMID:28492532 |
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NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
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G |
H3f3a |
H3.3 histone A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chr13:92,533,294...92,544,903
Ensembl chr13:92,533,298...92,544,908
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G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar OMIM RGD |
PMID:8841193 PMID:9367679 PMID:9536098 PMID:10914677 PMID:15083169 PMID:16199547 PMID:17576681 PMID:17882224 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23757202 PMID:23911890 PMID:24033266 PMID:24707176 PMID:25614869 PMID:25741868 PMID:26248958 PMID:26467025 PMID:28492532 PMID:30688039 PMID:32040565 PMID:8841193 More...
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RGD:734618 |
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Atxn2l |
ataxin 2-like |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:17882224 PMID:24707176 PMID:28492532 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Lat |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 |
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NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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G |
Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 |
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NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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G |
Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 PMID:28492532 PMID:32040565 More...
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NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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G |
Sh2b1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 PMID:28492532 PMID:32040565 More...
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NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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G |
Spns1 |
sphingolipid transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:23911890 PMID:28492532 PMID:32040565 |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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G |
Tufm |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 PMID:28492532 PMID:32040565 More...
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISS ISO |
OMIM:259450 | OMIM:609220 ClinVar Annotator: match by term: Bruck syndrome | ClinVar Annotator: match by term: Osteogenesis imperfecta with congenital joint contractures |
MouseDO ClinVar |
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISS |
OMIM:259450 | OMIM:609220 |
MouseDO |
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32655337 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Bent Spine Syndrome |
ClinVar |
PMID:17486094 PMID:21378381 PMID:24741716 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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