RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: autosomal recessive limb-girdle muscular dystrophy
Accession: DOID:0110274
browse the term
Definition: A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms: exact_synonym: recessive limb-girdle muscular dystrophy
primary_id: MESH:C538640
xref: OMIM:PS253600 ; ORDO:102015
For additional species annotation, visit the
Alliance of Genome Resources .
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Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar
PMID:18414213 PMID:23606453 PMID:24022920 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31395899
NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
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Astn2
astrotactin 2
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:18055493 PMID:18414213 PMID:18854868 PMID:18854869 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532
NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
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Cav3
caveolin 3
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar
PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:18509671 PMID:19380584 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25630502 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862
NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
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Dysf
dysferlin
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:22213072 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27666772 PMID:28492532 PMID:30564623
NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
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Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532
NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
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Lmna
lamin A/C
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
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748
NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
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Pomt1
protein-O-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:23757202 PMID:24033266 PMID:25741868
NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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Pomt2
protein-O-mannosyltransferase 2
ISO
DNA:missense mutation:exon:p.T184M, (c.551C>T) (human) ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:17923109
RGD:11532762
NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
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Sgca
sarcoglycan, alpha
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar
PMID:9032047 PMID:9192266 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
NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
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Sgcb
sarcoglycan, beta
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 PMID:19770540 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
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Sgcd
sarcoglycan, delta
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532
NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
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Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
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Trim32
tripartite motif-containing 32
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
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Tspan1
tetraspanin 1
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748
NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
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Ttn
titin
ISO
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:27066507 PMID:28492532 PMID:28822653
NCBI chr 3:63,565,160...63,837,815
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Lama2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar OMIM
PMID:9158149 PMID:21953594 PMID:22166137 PMID:24957499 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27353517 PMID:27854218 PMID:28492532
NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
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Trappc11
trafficking protein particle complex subunit 11
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar
PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891
NCBI chr16:47,874,993...47,920,822
Ensembl chr16:47,874,993...47,920,823
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Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
ClinVar OMIM
PMID:25741868 PMID:27066570
NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
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Popdc3
popeye domain containing 3
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26
OMIM ClinVar
PMID:31610034
NCBI chr20:50,394,617...50,422,551
Ensembl chr20:50,394,650...50,422,560
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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy ClinVar Annotator: match by term: Calpainopathy ClinVar Annotator: match by OMIM:253600
ClinVar OMIM
PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 PMID:8624690 PMID:9150160 PMID:9246005 PMID:9266733 PMID:9452114 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: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: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:22378277 PMID:22443334 PMID:22505582 PMID:22926650 PMID:23169433 PMID:23553538 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:25741868 PMID:25987458 PMID:26060040 PMID:26301378 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:27854218 PMID:27884173 PMID:28300015 PMID:28403181 PMID:28492532 PMID:28602176 PMID:28881388 PMID:28915917 PMID:29685414 PMID:29797799 PMID:29970176 PMID:30028523 PMID:30056071 PMID:30107846 PMID:30323756 PMID:30564623 PMID:30919934 PMID:31555977 PMID:205172126 , PMID:10814721
RGD:734687
NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar
PMID:25741868 PMID:31263448
NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
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Dysf
dysferlin
ISO
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:253601
OMIM ClinVar CTD
PMID:1483054 PMID:2764718 PMID:8808603 PMID:9731526 PMID:9731527 PMID:10196377 PMID:10766988 PMID:11053681 PMID:11468312 PMID:11532985 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:16606933 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17562833 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:21173544 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 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:26467025 PMID:26579332 PMID:26671124 PMID:26764160 PMID:26806107 PMID:26916285 PMID:27066573 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:30098242 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:32860008
NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar
PMID:25741868 PMID:31263448
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Vdr
vitamin D receptor
ISO
protein:increased expression:muscle:
RGD
PMID:27558075
RGD:13210781
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
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Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human) ClinVar Annotator: match by OMIM:253700
OMIM ClinVar
PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9658457 PMID:9673983 PMID:9781048 PMID:10447257 PMID:10874299 PMID:10942431 PMID:12040521 PMID:12566530 PMID:14981741 PMID:15322984 PMID:15479193 PMID:16832103 PMID:18285821 PMID:18414213 PMID:18421900 PMID:19770540 PMID:20345928 PMID:20623375 PMID:22095924 PMID:22240777 PMID:23929688 PMID:24033266 PMID:24534832 PMID:24552312 PMID:25605665 PMID:25741868 PMID:25802879 PMID:26467025 PMID:27708273 PMID:28492532 PMID:32214227 , PMID:25802879
RGD:13605619
NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
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Dag1
dystroglycan 1
ISO
protein:increased degradation:skeletal muscle
RGD
PMID:15833425
RGD:11073211
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
G
Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
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Sgca
sarcoglycan, alpha
treatment
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar Annotator: match by term: Sarcoglycanopathies ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D ClinVar Annotator: match by OMIM:608099
OMIM ClinVar
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 PMID:8866424 PMID:9032047 PMID:9153448 PMID:9192266 PMID:9266733 PMID:9455986 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: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:25135358 PMID:25214167 PMID:25741868 PMID:26404900 PMID:26453141 PMID:26467025 PMID:26916285 PMID:26934379 PMID:26944168 PMID:27066551 PMID:27120200 PMID:27363342 PMID:28403181 PMID:28492532 PMID:29351619 PMID:30107846 PMID:30345904 PMID:30703231 PMID:30764848 PMID:30919934 , PMID:17653106
RGD:13605612
NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
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Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY
ClinVar
PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:30744660
NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
G
Sgcb
sarcoglycan, beta
treatment
ISO
ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E ClinVar Annotator: match by OMIM:604286 ClinVar Annotator: match by null
OMIM ClinVar
PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 PMID:9631401 PMID:10660328 PMID:10662809 PMID:10874299 PMID:10942431 PMID:10993494 PMID:11166169 PMID:11369190 PMID:12566530 PMID:12868499 PMID:15032976 PMID:15938573 PMID:15938574 PMID:16524571 PMID:17994539 PMID:18285821 PMID:18996010 PMID:19770540 PMID:20071171 PMID:21480868 PMID:22095924 PMID:23349452 PMID:25135358 PMID:25337728 PMID:25525159 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:26990548 PMID:27671536 PMID:28403181 PMID:28492532 PMID:28687063 PMID:28883879 PMID:29970176 , PMID:28284983 , PMID:10678176
RGD:13605613 , RGD:13605614
NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
G
Sgcd
sarcoglycan, delta
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2f, digenic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:601287
OMIM ClinVar CTD
PMID:8841194 PMID:9832045 PMID:10735275 PMID:10838250 PMID:10974018 PMID:12794684 PMID:14564412 PMID:16432241 PMID:17164264 PMID:17994539 PMID:18285821 PMID:18414213 PMID:19259135 PMID:19770540 PMID:19771157 PMID:20675662 PMID:22095924 PMID:22337857 PMID:23695275 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 PMID:26077850 PMID:26084686 PMID:26467025 PMID:26633542 PMID:26968544 PMID:27532257 PMID:28401079 PMID:28492532 PMID:28687063
NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
G
Tcap
titin-cap
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G ClinVar Annotator: match by OMIM:601954
OMIM ClinVar
PMID:10655062 PMID:15582318 PMID:16911908 PMID:18414213 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 PMID:20474083 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25326637 PMID:25741868 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:28492532 PMID:30871747 PMID:31303467
NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
G
Astn2
astrotactin 2
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:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
G
Trim32
tripartite motif-containing 32
ISO
ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar Annotator: match by OMIM:254110
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:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
G
Fkrp
fukutin related protein
treatment
ISO
DNA:deletion, missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED 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 Annotator: match by OMIM:607155
ClinVar OMIM
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: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:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 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:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28454995 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 , PMID:11741828 , PMID:17994539 , PMID:15580560 , PMID:17113772 , PMID:16634037 , PMID:21296577 , PMID:18671187 , PMID:25048216
RGD:1598944 , RGD:11063285 , RGD:11667967 , RGD:11667966 , RGD:11667965 , RGD:11667964 , RGD:11667963 , RGD:11667961
NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
G
Strn4
striatin 4
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
ClinVar
PMID:25741868
NCBI chr 1:78,739,930...78,765,696
Ensembl chr 1:78,735,678...78,765,692
G
Ttn
titin
ISO
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:9804419 PMID:10053013 PMID:10462489 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22820391 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23446887 PMID:23478172 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 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:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26084686 PMID:26272908 PMID:26383259 PMID:26392295 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27321809 PMID:27400856 PMID:27418678 PMID:27532257 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27813223 PMID:27854218 PMID:27854229 PMID:27863505 PMID:27868399 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28295036 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29386531 PMID:29447731 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30086531 PMID:30365001 PMID:30371277 PMID:30429050 PMID:30535219 PMID:30615648 PMID:30724488 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31028938 PMID:31127727 PMID:31215789 PMID:31317183 PMID:31539150 PMID:31795264 PMID:31983221 PMID:32934002
NCBI chr 3:63,565,160...63,837,815
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
G
Aif1l
allograft inflammatory factor 1-like
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:9,237,944...9,262,628
Ensembl chr 3:9,237,944...9,262,628
G
Exosc2
exosome component 2
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:10,151,734...10,161,997
Ensembl chr 3:10,151,284...10,161,989
G
Fam78a
family with sequence similarity 78, member A
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:11,086,016...11,105,151
Ensembl chr 3:11,087,299...11,102,515
G
Fibcd1
fibrinogen C domain containing 1
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:9,365,866...9,399,578
Ensembl chr 3:9,366,053...9,396,450
G
Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532
NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
G
Lamc3
laminin subunit gamma 3
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
G
Nup214
nucleoporin 214
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:9,227,869...9,236,878 NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736 Ensembl chr 3:9,227,823...9,236,736
G
Plpp7
phospholipid phosphatase 7 (inactive)
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:11,114,551...11,130,427
Ensembl chr 3:11,114,551...11,130,425
G
Pomt1
protein-O-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K ClinVar Annotator: match by OMIM:609308
OMIM ClinVar
PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:20816175 PMID:21102627 PMID:22323514 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:26467025 PMID:28116189 PMID:28182637 PMID:28492532 PMID:28556411 PMID:30060766 PMID:32860008
NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
G
Prdm12
PR/SET domain 12
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:10,181,104...10,199,185
Ensembl chr 3:10,181,924...10,196,626
G
Prrc2b
proline-rich coiled-coil 2B
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:11,165,687...11,252,401
Ensembl chr 3:11,198,401...11,248,558
G
Qrfp
pyroglutamylated RFamide peptide
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar
PMID:28492532
NCBI chr 3:9,402,397...9,404,354
Ensembl chr 3:10,036,461...10,036,841 Ensembl chr 3:10,036,461...10,036,841
G
Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar Annotator: match by OMIM:611307 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
PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25135358 PMID:25326637 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26810512 PMID:26911675 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28492532 PMID:31350120 PMID:31395899 PMID:31931849 PMID:32419263 , PMID:22742934 , PMID:20096397 , PMID:23606453
RGD:11570561 , RGD:11570558 , RGD:11066746
NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
G
Fktn
fukutin
ISO
DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human)
RGD
PMID:17044012
RGD:11576328
NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
G
Fktn
fukutin
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M ClinVar Annotator: match by OMIM:611588
OMIM ClinVar
PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:22275357 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766
NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
G
Pomt2
protein-O-mannosyltransferase 2
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 ClinVar Annotator: match by OMIM:613158
OMIM ClinVar
PMID:17878207 PMID:17923109 PMID:18414213 PMID:18513969 PMID:19299310 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:30060766
NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
G
Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED ClinVar Annotator: match by OMIM:613157
OMIM ClinVar
PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 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:23689641 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:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30937090 PMID:30961548 PMID:33175337
NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
G
Tspan1
tetraspanin 1
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar
PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 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:23689641 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:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30937090 PMID:30961548 PMID:33175337
NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
G
Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
G
Ccdc71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,236,933...117,251,573
Ensembl chr 8:117,246,376...117,250,280
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P ClinVar Annotator: match by OMIM:613818
OMIM ClinVar
PMID:14678799 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:31097590
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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Gpx1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Iho1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,182,484...117,215,390
Ensembl chr 8:117,183,343...117,211,170
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Klhdc8b
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,232,047...117,236,792
Ensembl chr 8:117,231,769...117,237,229
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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LOC498675
hypothetical LOC498675
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,170,620...117,175,235
Ensembl chr 8:117,170,620...117,175,235
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LOC680045
hypothetical protein LOC680045
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,214,999...117,231,024
Ensembl chr 8:117,221,367...117,231,029
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Nicn1
nicolin 1
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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Tcta
T-cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,079,094...117,082,338
Ensembl chr 8:117,079,095...117,082,162
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Usp4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar
PMID:20234391 PMID:28492532
NCBI chr 8:117,126,692...117,171,012
Ensembl chr 8:117,126,692...117,171,012
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Plec
plectin
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q ClinVar Annotator: match by OMIM:613723
OMIM ClinVar
PMID:15810881 PMID:21109228 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31319225
NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
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Trappc11
trafficking protein particle complex subunit 11
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S ClinVar Annotator: match by OMIM:615356
OMIM ClinVar
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
NCBI chr16:47,874,993...47,920,822
Ensembl chr16:47,874,993...47,920,823
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Gmppb
GDP-mannose pyrophosphorylase B
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 ClinVar Annotator: match by OMIM:615352
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:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953
NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
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Crppa
CDP-L-ribitol pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C7 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
ClinVar OMIM
PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868
NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
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Gpr17
G protein-coupled receptor 17
ISO
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W
ClinVar
PMID:28492532
NCBI chr18:24,733,306...24,739,194
Ensembl chr18:24,734,330...24,735,349
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Lims2
LIM zinc finger domain containing 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2w
ClinVar OMIM
PMID:25589244 PMID:25741868 PMID:28492532
NCBI chr18:24,707,951...24,746,159
Ensembl chr18:24,708,115...24,746,159
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Bves
blood vessel epicardial substance
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X
ClinVar OMIM
PMID:25741868 PMID:26642364 PMID:31119192
NCBI chr20:50,439,885...50,474,678
Ensembl chr20:50,439,883...50,474,678
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Tor1aip1
torsin 1A interacting protein 1
ISO
ClinVar Annotator: match by OMIM:617072 ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y
ClinVar OMIM
PMID:4856141 PMID:24856141 PMID:25193337 PMID:25741868 PMID:27342937 PMID:28492532
NCBI chr13:73,670,649...73,704,668
Ensembl chr13:73,670,141...73,704,678
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Tor1aip2
torsin 1A interacting protein 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y
ClinVar
PMID:24856141 PMID:25193337
NCBI chr13:73,704,088...73,735,339
Ensembl chr13:73,708,815...73,735,339 Ensembl chr13:73,708,815...73,735,339
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Poglut1
protein O-glucosyltransferase 1
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z
ClinVar OMIM
PMID:27807076
NCBI chr11:64,761,493...64,788,210
Ensembl chr11:64,761,146...64,788,208
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Dpm3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by OMIM:612937 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O
ClinVar OMIM
PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 PMID:31469168
NCBI chr 2:188,583,664...188,584,179
Ensembl chr 2:188,583,664...188,584,179
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,393,619...82,400,537
Ensembl chr 9:82,393,672...82,400,530
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,382,800...82,393,429
Ensembl chr 9:82,382,800...82,393,382
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,644,239...81,652,045
Ensembl chr 9:81,644,355...81,651,989
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,120,059...82,121,527
Ensembl chr 9:82,120,059...82,121,527
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,163,016...82,197,909
Ensembl chr 9:82,163,075...82,195,722
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,783,349...81,808,815
Ensembl chr 9:81,783,349...81,808,805
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,338,865...82,345,262
Ensembl chr 9:82,338,866...82,345,262
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,151,056...82,154,266
Ensembl chr 9:82,151,057...82,154,266
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,672,613...81,677,979
Ensembl chr 9:81,672,758...81,677,979
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
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Des
desmin
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2R ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2r CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY protein:altered expression:cardiomyocyte: ClinVar Annotator: match by OMIM:601419
OMIM ClinVar CTD
PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 PMID:9697706 PMID:9736733 PMID:10430757 PMID:10545598 PMID:10717012 PMID:10905661 PMID:10970245 PMID:11061256 PMID:11073539 PMID:11668632 PMID:11728149 PMID:12410397 PMID:12609507 PMID:12620971 PMID:12766977 PMID:14326018 PMID:14711882 PMID:14724127 PMID:14991347 PMID:15050448 PMID:15477095 PMID:15800015 PMID:16009553 PMID:16217025 PMID:16449718 PMID:16519886 PMID:16806931 PMID:16828798 PMID:16865695 PMID:16890305 PMID:17105773 PMID:17188893 PMID:17221859 PMID:17325244 PMID:17418574 PMID:17439987 PMID:17576681 PMID:17626518 PMID:17720647 PMID:18061454 PMID:18414213 PMID:18539904 PMID:18563598 PMID:18653338 PMID:18765652 PMID:19005210 PMID:19151983 PMID:19181099 PMID:19433360 PMID:19587455 PMID:19716701 PMID:19763525 PMID:19879535 PMID:20171226 PMID:20301672 PMID:20423733 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20718792 PMID:20829228 PMID:20981092 PMID:21262226 PMID:21520333 PMID:21842594 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22395865 PMID:22403400 PMID:22484823 PMID:23032110 PMID:23143191 PMID:23155419 PMID:23168288 PMID:23299917 PMID:23300193 PMID:23349452 PMID:23396983 PMID:23425003 PMID:23575897 PMID:23687351 PMID:23785128 PMID:23806086 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24200904 PMID:24503780 PMID:25171807 PMID:25179549 PMID:25214167 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26265630 PMID:26272908 PMID:26431784 PMID:26467025 PMID:26633545 PMID:26724190 PMID:26789769 PMID:27393313 PMID:27532257 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28703267 PMID:29034897 PMID:29212896 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29447731 PMID:29915097 PMID:29926427 PMID:30055862 PMID:30614851 PMID:30847666 PMID:32093415 , PMID:28341603
RGD:13542086
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,142,981...82,146,855
Ensembl chr 9:82,142,981...82,146,874
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,400,457...82,410,970
Ensembl chr 9:82,400,569...82,410,904
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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Ldb3
LIM domain binding 3
ISS
OMIM:601419
MouseDO
NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,675,275...81,675,359
Ensembl chr 9:81,675,275...81,675,359
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,230,230...82,327,923
Ensembl chr 9:82,230,232...82,327,534
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,816,395...81,844,364
Ensembl chr 9:81,816,872...81,844,364
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,999,368...82,008,620
Ensembl chr 9:81,999,376...82,008,620
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,345,686...82,351,800
Ensembl chr 9:82,345,719...82,351,802
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,873,293...81,880,172
Ensembl chr 9:81,873,171...81,880,105
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,328,007...82,338,576
Ensembl chr 9:82,328,173...82,336,806
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,411,010...82,414,249
Ensembl chr 9:82,411,013...82,414,240
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,880,175...81,908,014
Ensembl chr 9:81,880,177...81,907,273
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,569,289...81,586,469
Ensembl chr 9:81,569,289...81,586,553
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,925,363...81,961,882
Ensembl chr 9:81,940,630...81,954,686
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,717,626...81,818,421
Ensembl chr 9:81,716,876...81,772,851
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,689,802...81,717,623
Ensembl chr 9:81,689,802...81,717,621
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:82,370,887...82,373,843
Ensembl chr 9:82,370,924...82,373,839
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar
PMID:28492532
NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all