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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:muscular dystrophy
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Accession:DOID:9884 term browser browse the term
Definition:A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Synonyms:exact_synonym: Myodystrophica;   muscular dystrophies;   myodystrophicas;   myodystrophies;   myodystrophy
 primary_id: MESH:D009136
 alt_id: RDO:0000546
 xref: GARD:7922;   NCI:C84910
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 PMID:25891276 PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Capn3 calpain 3 susceptibility ISO Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations
ClinVar Annotator: match by term: Muscular dystrophy
ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17236769 PMID:17318636 PMID:17702496 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25135358 PMID:25741868 PMID:26467025 PMID:26501342 PMID:27142102 PMID:28492532, PMID:9150160 RGD:1600769 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cav3 caveolin 3 susceptibility ISO DNA:missense mutation, deletion RGD PMID:9537420 RGD:1599529 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Chkb choline kinase beta ISO DNA:nonsense mutations, missense mutations, deletion:multiple
DNA:deletion
RGD PMID:21665002, PMID:21750112 RGD:6483361, RGD:6483363 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20716577 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25535305 PMID:25741868 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:missense mutation
ClinVar Annotator: match by term: Muscular dystrophy
ClinVar PMID:25741868 PMID:28492532 PMID:30564623, PMID:9536084 RGD:1600940 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Dag1 dystroglycan 1 ISO protein:decreased glycosylation:skeletal muscle RGD PMID:11381262 RGD:1358757 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscular dystrophy
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:1549142 PMID:2063877 PMID:9327405 PMID:10465346 PMID:10797403 PMID:11185740 PMID:16030524 PMID:17440445 PMID:18752307 PMID:19449031 PMID:20031633 PMID:20301298 PMID:20805873 PMID:22906800 PMID:23299919 PMID:24033266 PMID:24135430 PMID:25244321 PMID:25741868 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23105016 PMID:28492532 NCBI chr14:48,612,893...48,677,023
Ensembl chr14:48,629,983...48,676,829
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:21522182 PMID:24033266 PMID:25741868 PMID:27884173 PMID:28492532, PMID:9731526 RGD:1598789 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Fkrp fukutin related protein ISO
ISS
DNA:missense mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Muscular dystrophy
OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416
ClinVar
MouseDO
PMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740, PMID:11592034 RGD:11064865 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:c.340G>A, c.527T>C (human)
DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation:exon:multiple
CTD PMID:16531417, PMID:10852541, PMID:19342235, PMID:20961758, PMID:19179078 RGD:11576326, RGD:11576325, RGD:11070464, RGD:11576323 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23768512 PMID:24033266 PMID:24780531 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:29437916 PMID:30060766 PMID:30684953 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:21549339 PMID:23449775 PMID:24458321 PMID:28492532 PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Lama2 laminin subunit alpha 2 susceptibility ISO DNA:splice-site mutation, nonsense mutation
CTD Direct Evidence: marker/mechanism
CTD PMID:18074402 PMID:22906800, PMID:7550355 RGD:1600200 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:17878207 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532, PMID:11381262 RGD:1358757 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:1839274 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10739764 PMID:10814726 PMID:10939567 PMID:11503164 PMID:11731280 PMID:11792809 PMID:11792810 PMID:12032588 PMID:12628721 PMID:12649505 PMID:12673789 PMID:12920062 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15148145 PMID:15372542 PMID:15744034 PMID:16218190 PMID:16386954 PMID:17136397 PMID:17377071 PMID:18035086 PMID:18035816 PMID:18396274 PMID:18414213 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18646565 PMID:19524666 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21179469 PMID:21520333 PMID:21632249 PMID:21818408 PMID:21840938 PMID:21970986 PMID:22326558 PMID:22883396 PMID:23150259 PMID:23183350 PMID:23427149 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24990833 PMID:25741868 PMID:25948554 PMID:25987458 PMID:26443318 PMID:26467025 PMID:27034135 PMID:27220833 PMID:27673727 PMID:27854218 PMID:28492532 PMID:29057633 PMID:29907918 PMID:30055862 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh8 myosin heavy chain 8 ISO protein:increased expression:muscle: RGD PMID:3513005 RGD:12914761 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Myot myotilin ISO Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 RGD PMID:10958653 RGD:1599673 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) RGD PMID:17030669 RGD:1599152 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:mutations: :multiple RGD PMID:16575835 RGD:11532686 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy
DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)
ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532, PMID:17634419 RGD:11532760 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Prima1 proline rich membrane anchor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 6:127,075,954...127,127,985
Ensembl chr 6:127,075,954...127,127,413
JBrowse link
G Pten phosphatase and tensin homolog treatment ISO RGD PMID:24789910 RGD:12859039 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link
G Selenon selenoprotein N ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy
CTD
ClinVar
PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:17123513 PMID:17365175 PMID:17951086 PMID:18313359 PMID:18713863 PMID:19067361 PMID:21670436 PMID:23394784 PMID:24033266 PMID:24988964 PMID:26467025 PMID:28492532 PMID:30921636 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:22303798 PMID:25741868 PMID:26934379 PMID:28492532, PMID:9192266, PMID:9744877, PMID:8069911 RGD:1599344, RGD:13605611, RGD:1599345 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sgcb sarcoglycan, beta ISO autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 RGD PMID:9631401 RGD:1599343 NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
JBrowse link
G Sgcd sarcoglycan, delta ISO Limb-girdle muscular dystrophies (LGMD), OMIM:601411 RGD PMID:8841194 RGD:1599341 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:cds: c.323C>T, p.N108S(human) RGD PMID:25091525 RGD:13209008 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10235436 RGD:10449464 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Trim32 tripartite motif-containing 32 susceptibility ISO Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N RGD PMID:11822024 RGD:1624127 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
JBrowse link
G Trim63 tripartite motif containing 63 IEP
IMP
mRNA:increased expression:muscle
dexamethaso-induced and hindlimb denervation
RGD PMID:24710205, PMID:24710205 RGD:14695084, RGD:14695084 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
G Trim63em1(hiLuc) tripartite motif containing 63; ZFN targeted mutation 1 IMP dexamethaso-induced and hindlimb denervation RGD PMID:24710205 RGD:14695084
G Ttn titin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826 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:28492532 PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274 PMID:1849984 PMID:2280636 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739764 PMID:10814726 PMID:10939567 PMID:11138304 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12649505 PMID:12673789 PMID:12748643 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15668447 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16218190 PMID:16386954 PMID:16440304 PMID:16772334 PMID:17136397 PMID:17274801 PMID:17377071 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18604166 PMID:18646565 PMID:18795223 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19882644 PMID:19933576 PMID:20301609 PMID:20376791 PMID:20498703 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21315846 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21840938 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22431096 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23077635 PMID:23183350 PMID:23328570 PMID:23349452 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24237251 PMID:24349489 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:24990833 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25326637 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25948554 PMID:25982065 PMID:25987458 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26443318 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27220833 PMID:27532257 PMID:27585670 PMID:27717888 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29057633 PMID:29149195 PMID:29237675 PMID:29676528 PMID:29753763 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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
OMIM
PMID:17761684 PMID:18414213 PMID:21572417 PMID:22287014 PMID:23352163 PMID:23959263 PMID:24123366 PMID:24123876 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25976027 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 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:30275942 PMID:30564623 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:17761684 PMID:18414213 PMID:22995991 PMID:25179549 PMID:25214167 PMID:25587064 PMID:25741868 PMID:26094658 PMID:26467025 PMID:27632638 PMID:28074886 PMID:28492532 PMID:28798025 NCBI chr 6:98,884,269...99,153,551 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
ClinVar Annotator: match by OMIM:614302
OMIM
ClinVar
PMID:21391237 PMID:21636032 PMID:23812740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
ClinVar Annotator: match by OMIM:603511
OMIM
ClinVar
PMID:9973293 PMID:10489050 PMID:20682716 PMID:21376592 PMID:22334415 PMID:22366786 PMID:24033266 PMID:24594375 PMID:24920671 PMID:25741868 PMID:26205529 PMID:26371419 PMID:26467025 PMID:26847086 PMID:27642634 PMID:27671536 PMID:28233300 PMID:28492532 PMID:28794355 PMID:30564623 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar
PMID:11222786 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 NCBI chr 4:56,820,023...56,897,310
Ensembl chr 4:56,820,023...56,897,338
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15367920 PMID:24647604 PMID:25741868 PMID:28492532 NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
OMIM
ClinVar
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9642272 PMID:10102422 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16627476 PMID:16650086 PMID:17236769 PMID:17318636 PMID:17994539 PMID:18055493 PMID:19156839 PMID:19556129 PMID:20635405 PMID:21204801 PMID:21984748 PMID:22443334 PMID:25741868 PMID:26467025 PMID:27066545 PMID:27142102 PMID:27259757 PMID:27708273 PMID:28492532 PMID:28602176 PMID:28881388 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12927424 PMID:15205219 PMID:16181372 PMID:16364671 PMID:16415042 PMID:18414213 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19859838 PMID:20130076 PMID:20625965 PMID:21465660 PMID:22224630 PMID:22266370 PMID:22431096 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:26467025 PMID:26602028 PMID:26662654 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 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
JBrowse link
G 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 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G 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
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:21465660 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Trappc11 trafficking protein particle complex 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
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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: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:205172126, PMID:10814721 RGD:734687 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25326637 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:27854218 PMID:28492532 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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: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
JBrowse link
G 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
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
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
JBrowse link
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
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: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:30703231 PMID:30764848, PMID:17653106 RGD:13605612 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:28492532 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
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:28492532 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein treatment ISO DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
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
JBrowse link
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22820391 PMID:23299917 PMID:23396983 PMID:23418287 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:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24667040 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25363768 PMID:25447171 PMID:25498755 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26076356 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:27532257 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27813223 PMID:27854218 PMID:27854229 PMID:27868399 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 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:30371277 PMID:30429050 PMID:30535219 PMID:30615648 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31215789 PMID:31317183 PMID:31795264 PMID:31983221 NCBI chr 3:63,565,160...63,837,815 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: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:31395899, 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
JBrowse link
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
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc11 trafficking protein particle complex 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Becker muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type
ClinVar Annotator: match by term: Becker muscular dystrophy, atypical
ClinVar Annotator: match by term: Muscular dystrophy, Becker
ClinVar
OMIM
PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 PMID:1996328 PMID:2677830 PMID:7611292 PMID:7881286 PMID:7951253 PMID:8279470 PMID:8281150 PMID:8301652 PMID:8322822 PMID:8401537 PMID:8504498 PMID:8840119 PMID:9410897 PMID:9544849 PMID:10832829 PMID:11039581 PMID:11053684 PMID:11710958 PMID:12522557 PMID:12632325 PMID:12754707 PMID:15351422 PMID:15643612 PMID:16770791 PMID:17041906 PMID:17259292 PMID:17854090 PMID:18583217 PMID:18652600 PMID:19074751 PMID:19206170 PMID:19367636 PMID:19409785 PMID:19530190 PMID:19602481 PMID:19793655 PMID:19937601 PMID:19959795 PMID:20485447 PMID:21104870 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21525508 PMID:21681106 PMID:22223181 PMID:22910583 PMID:23453023 PMID:23536893 PMID:23756440 PMID:23757202 PMID:24033266 PMID:24292997 PMID:24349052 PMID:25007885 PMID:25447171 PMID:25525159 PMID:25612904 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26467025 PMID:26743743 PMID:26911353 PMID:27593222 PMID:27708273 PMID:27930565 PMID:28116794 PMID:28492532 PMID:28859693 PMID:28878402 PMID:29581631 PMID:29641567 PMID:29973226 PMID:30833962 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:12632325 PMID:17259292 PMID:19206170 PMID:19793655 PMID:19937601 PMID:21396098 PMID:21399986 PMID:22910583 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:28878402 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 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:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 9:97,355,881...97,367,455
Ensembl chr 9:97,355,924...97,367,445
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
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
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16130093 PMID:16141002 PMID:16935502 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:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23661642 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 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:8782832 RGD:1600934 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:1788629 PMID:4271325 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16935502 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:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:21520333 PMID:22075033 PMID:23040494 PMID:23138527 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29419890 PMID:30564623 PMID:32860008, PMID:8782832 RGD:1600934 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9536084 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24907562 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 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:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 9:97,772,224...97,782,055
Ensembl chr 9:97,772,184...97,782,067
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Brody myopathy
ClinVar Annotator: match by OMIM:601003
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8841193 PMID:9367679 PMID:10914677 PMID:17882224 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23757202 PMID:23911890 PMID:24033266 PMID:24707176 PMID:25614869 PMID:26248958 PMID:26467025 PMID:28492532, PMID:8841193 RGD:734618 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar Annotator: match by OMIM:607855
OMIM
ClinVar
PMID:0055037 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16216942 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25663498 PMID:25741868 PMID:26104111 PMID:26304763 PMID:26436962 PMID:26467025 PMID:26607181 PMID:26633542 PMID:27159402 PMID:27353517 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27858741 PMID:27858771 PMID:27896284 PMID:27932089 PMID:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29706646 PMID:30055037 PMID:30147969 PMID:30301903 PMID:30373198 PMID:30827497 PMID:32860008, PMID:28714989 RGD:13605609 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 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
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254100 MouseDO NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29260090 PMID:29382405 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Muscular dystrophy, congenital
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Itga7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
ClinVar Annotator: match by OMIM:613204
OMIM
ClinVar
PMID:9590299 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532, PMID:9354797 RGD:13601979 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by OMIM:613205
OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11792809 PMID:12057196 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15622532 PMID:15961312 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17377071 PMID:17881656 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:22090424 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22491857 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:25214167 PMID:25326635 PMID:25637381 PMID:25741868 PMID:26098624 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27876398 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:24508248 RGD:12791283 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY ClinVar
OMIM
PMID:28190456 PMID:28190459 NCBI chr10:63,775,639...63,796,879
Ensembl chr10:63,776,378...63,795,899
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 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
JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type ClinVar
OMIM
PMID:25741868 PMID:27008887 PMID:31794073 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350
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:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,586,754...55,647,650
Ensembl chr 6:55,586,346...55,647,665
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:10738921 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,694,269...55,757,234
Ensembl chr 6:55,694,470...55,711,146
JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,812,820...55,816,994
Ensembl chr 6:55,812,747...55,817,066
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:11320179 PMID:12369018 PMID:15037715 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:28116189 PMID:28492532 PMID:28556411 PMID:31319225 PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:23453667 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by OMIM:613153
OMIM
ClinVar
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 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:26923585 PMID:27439679 PMID:28492532 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
distal muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Myopathy, distal, 4 ClinVar PMID:25741868 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY
ClinVar Annotator: match by term: Myopathy, distal, 4
ClinVar Annotator: match by OMIM:614065
OMIM
ClinVar
PMID:15824355 PMID:21620354 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26666891 PMID:27296017 PMID:28356264 PMID:28492532 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Frmd1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Myopathy, distal, 4 ClinVar PMID:25741868 NCBI chr 1:54,316,651...54,328,405 JBrowse link
distal muscular dystrophy Tateyama type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar
PMID:09536092 PMID:10227634 PMID:10746614 PMID:11251997 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:11884389 PMID:12269726 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14672715 PMID:15318349 PMID:15564037 PMID:15580566 PMID:16723230 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:17556197 PMID:17897828 PMID:18583131 PMID:18930476 PMID:19380584 PMID:20472890 PMID:21404291 PMID:21610159 PMID:23465283 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27061274 PMID:27483260 PMID:27930701 PMID:28492532 PMID:28981925 PMID:29961767 PMID:30055862 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:12269726 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14672715 PMID:15318349 PMID:15564037 PMID:15580566 PMID:16723230 PMID:17556197 PMID:17897828 PMID:18583131 PMID:18930476 PMID:19380584 PMID:20472890 PMID:21404291 PMID:21610159 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27061274 PMID:28492532 PMID:28981925 PMID:30055862 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
distal muscular dystrophy with anterior tibial onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onset
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9731526 PMID:11053681 PMID:11198284 PMID:11468312 PMID:11532985 PMID:12796534 PMID:14678801 PMID:15535137 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16934466 PMID:17070050 PMID:17698709 PMID:17994539 PMID:18276788 PMID:18832576 PMID:18853459 PMID:19528035 PMID:20301480 PMID:20535123 PMID:20544924 PMID:20558759 PMID:21522182 PMID:21816046 PMID:22194990 PMID:22246893 PMID:22297152 PMID:23243261 PMID:24033266 PMID:24488599 PMID:24838345 PMID:25312915 PMID:25493284 PMID:25591676 PMID:25741868 PMID:25868377 PMID:26467025 PMID:26806107 PMID:26916285 PMID:27602406 PMID:27647186 PMID:27821570 PMID:27854218 PMID:28492532 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
distal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Dysf dysferlin ISS OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 MouseDO NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:25741868 PMID:26976520 PMID:28501893 PMID:29029362 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
G Ldb3 LIM domain binding 3 ISO DNA:missense mutation:exon:p.A165V (human) RGD PMID:17337483 RGD:11068981 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:15064763 PMID:15549395 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:18316077 PMID:18425620 PMID:18946002 PMID:18957892 PMID:19889647 PMID:20008656 PMID:21285398 PMID:21326314 PMID:21531138 PMID:21840889 PMID:22442078 PMID:22492563 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25741868 PMID:26085578 PMID:26307494 PMID:26382835 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:28660751 PMID:31188717 PMID:32963807 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by OMIM:160500
ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myopathy, distal, 1
ClinVar
CTD
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:8533830 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10563488 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:12379228 PMID:12566107 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12974739 PMID:12975413 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19412328 PMID:19645038 PMID:19880069 PMID:20031618 PMID:20086309 PMID:20350521 PMID:20474083 PMID:20664766 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22763267 PMID:22765922 PMID:22811549 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24721642 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:25714468 PMID:25741868 PMID:25937619 PMID:26220970 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26846766 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28790153 PMID:28798025 PMID:28878402 PMID:29121657 PMID:29178653 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type ClinVar PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by OMIM:600334
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type
ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Udd Distal Myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1745277 PMID:10053013 PMID:10462489 PMID:11717165 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:20890277 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24892279 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25447171 PMID:25498755 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25889363 PMID:25979592 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27585509 PMID:27788187 PMID:27854229 PMID:27868399 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:29099038 PMID:29221435 PMID:29361395 PMID:29540445 PMID:29590070 PMID:29970176 PMID:30535219 PMID:30847666 PMID:30924900 PMID:30993396 PMID:31127727 PMID:31215789 NCBI chr 3:63,565,160...63,837,815 JBrowse link
distal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Myopathy, distal, 1
ClinVar Annotator: match by term: Laing early-onset distal myopathy
ClinVar Annotator: match by term: Laing distal myopathy
ClinVar
OMIM
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:9826622 PMID:9829907 PMID:9835779 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10563488 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:12566107 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12974739 PMID:12975413 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15556047 PMID:15563892 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:17125710 PMID:17336526 PMID:17372140 PMID:17438619 PMID:17476457 PMID:17548557 PMID:17560888 PMID:17612745 PMID:17947214 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18555187 PMID:18660445 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19412328 PMID:19477645 PMID:19645038 PMID:19651039 PMID:19666645 PMID:19808347 PMID:19854198 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20086309 PMID:20350521 PMID:20359594 PMID:20474083 PMID:20513729 PMID:20624503 PMID:20664766 PMID:20733148 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21426742 PMID:21499742 PMID:21511876 PMID:21750094 PMID:21811976 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22155079 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22763267 PMID:22765922 PMID:22811549 PMID:22857948 PMID:22918376 PMID:22958901 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:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25214167 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25576864 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:26846766 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27387980 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27930701 PMID:27974200 PMID:28138913 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:28855170 PMID:28878402 PMID:29121657 PMID:29178653 PMID:29212898 PMID:29300372 PMID:29540472 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
Distal Myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adssl1 adenylosuccinate synthase like 1 ISO ClinVar Annotator: match by term: Myopathy, distal, 5 OMIM
ClinVar
PMID:25741868 PMID:26506222 PMID:28268051 PMID:32331917 PMID:32646962 NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
JBrowse link
Distal Myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM
ClinVar
PMID:25741868 PMID:30900782 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle
RGD PMID:15833425, PMID:7630355, PMID:11445638 RGD:11073211, RGD:11552581, RGD:11537476 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dmd dystrophin treatment ISO
IMP
ClinVar Annotator: match by term: Dystrophinopathies
ClinVar Annotator: match by term: Duchenne muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 3B
mRNA:decreased stability:muscle
ClinVar Annotator: match by term: Intermediate muscular dystrophy
ClinVar Annotator: match by OMIM:310200
ClinVar Annotator: match by OMIM:300376
ClinVar
CTD
OMIM
PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 PMID:1483053 PMID:1496988 PMID:1513469 PMID:1549596 PMID:1601417 PMID:1864612 PMID:1868831 PMID:1889805 PMID:2040695 PMID:2063877 PMID:2071150 PMID:2136098 PMID:2261642 PMID:2316519 PMID:2354438 PMID:2383276 PMID:2573997 PMID:2585468 PMID:2691353 PMID:7041906 PMID:7581396 PMID:7599634 PMID:7599638 PMID:7611292 PMID:7649554 PMID:7668256 PMID:7747792 PMID:7825571 PMID:7825572 PMID:7849724 PMID:7853367 PMID:7881286 PMID:7951251 PMID:7951253 PMID:7981590 PMID:7981690 PMID:8034300 PMID:8149204 PMID:8160755 PMID:8199594 PMID:8281150 PMID:8301652 PMID:8317478 PMID:8353493 PMID:8361506 PMID:8364587 PMID:8401539 PMID:8401582 PMID:8413368 PMID:8423832 PMID:8499922 PMID:8533818 PMID:8543940 PMID:8784808 PMID:8789442 PMID:8840119 PMID:9007319 PMID:9028449 PMID:9040743 PMID:9067763 PMID:9073314 PMID:9143930 PMID:9170407 PMID:9195228 PMID:9225508 PMID:9298822 PMID:9441825 PMID:9470882 PMID:9544849 PMID:9619643 PMID:9628192 PMID:9760747 PMID:9800909 PMID:10094565 PMID:10196701 PMID:10320864 PMID:10392746 PMID:10407857 PMID:10464635 PMID:10480348 PMID:10533061 PMID:10541573 PMID:10612827 PMID:10832829 PMID:10841222 PMID:10909857 PMID:10939566 PMID:11039581 PMID:11185740 PMID:11257468 PMID:11381192 PMID:11388892 PMID:11409318 PMID:11409421 PMID:11524473 PMID:11710958 PMID:12111668 PMID:12233050 PMID:12324874 PMID:12354438 PMID:12359139 PMID:12398835 PMID:12467752 PMID:12632325 PMID:12673664 PMID:12674656 PMID:12754415 PMID:12754707 PMID:12920092 PMID:12955720 PMID:12966700 PMID:13679720 PMID:14571009 PMID:14652441 PMID:14659407 PMID:14695533 PMID:14751810 PMID:14973546 PMID:14977063 PMID:15038390 PMID:15253946 PMID:15319032 PMID:15351422 PMID:15637982 PMID:15643612 PMID:15655674 PMID:15684864 PMID:15723292 PMID:15841391 PMID:15845029 PMID:15952989 PMID:15976104 PMID:16030524 PMID:16049303 PMID:16077730 PMID:16122626 PMID:16331671 PMID:16439068 PMID:16566881 PMID:16770791 PMID:16834926 PMID:16883524 PMID:16917894 PMID:16950195 PMID:17024373 PMID:17041906 PMID:17124406 PMID:17141273 PMID:17145200 PMID:17253928 PMID:17259292 PMID:17435279 PMID:17561468 PMID:17726484 PMID:17854090 PMID:17880784 PMID:17952667 PMID:18055393 PMID:18059005 PMID:18261911 PMID:18348289 PMID:18353051 PMID:18403565 PMID:18445268 PMID:18583217 PMID:18646563 PMID:18652600 PMID:18653336 PMID:18663755 PMID:18683213 PMID:18752307 PMID:18853462 PMID:18974567 PMID:19001018 PMID:19040728 PMID:19073314 PMID:19074751 PMID:19084397 PMID:19158079 PMID:19206170 PMID:19230662 PMID:19309154 PMID:19367636 PMID:19409785 PMID:19449031 PMID:19461958 PMID:19475718 PMID:19530190 PMID:19602481 PMID:19760747 PMID:19763152 PMID:19783145 PMID:19793655 PMID:19823873 PMID:19835634 PMID:19837995 PMID:19907931 PMID:19937601 PMID:19959795 PMID:20031633 PMID:20036901 PMID:20098710 PMID:20153965 PMID:20301788 PMID:20307669 PMID:20381484 PMID:20457930 PMID:20485447 PMID:20630757 PMID:20683981 PMID:20696926 PMID:20847377 PMID:20944443 PMID:21104870 PMID:21150048 PMID:21228398 PMID:21273767 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21520333 PMID:21525508 PMID:21815800 PMID:21851881 PMID:21896784 PMID:21969337 PMID:21972111 PMID:22090376 PMID:22092019 PMID:22102647 PMID:22161109 PMID:22223181 PMID:22234188 PMID:22234189 PMID:22379338 PMID:22406018 PMID:22510846 PMID:22678781 PMID:22776072 PMID:22894145 PMID:22910583 PMID:22980762 PMID:23251671 PMID:23276443 PMID:23297412 PMID:23299917 PMID:23299919 PMID:23352160 PMID:23438214 PMID:23453023 PMID:23536893 PMID:23667215 PMID:23695957 PMID:23756440 PMID:23757202 PMID:23818053 PMID:23829870 PMID:23871722 PMID:23914114 PMID:24033266 PMID:24055113 PMID:24099565 PMID:24217213 PMID:24265581 PMID:24292997 PMID:24300647 PMID:24302611 PMID:24349043 PMID:24349052 PMID:24558114 PMID:24690944 PMID:24770780 PMID:24835530 PMID:24871807 PMID:24892813 PMID:24928015 PMID:25007885 PMID:25056178 PMID:25076844 PMID:25108525 PMID:25163546 PMID:25231023 PMID:25244321 PMID:25326637 PMID:25333069 PMID:25348330 PMID:25353622 PMID:25434822 PMID:25447171 PMID:25474345 PMID:25482253 PMID:25525159 PMID:25612904 PMID:25614876 PMID:25636106 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26081009 PMID:26110187 PMID:26140716 PMID:26260725 PMID:26284620 PMID:26455815 PMID:26467025 PMID:26594346 PMID:26676145 PMID:26718981 PMID:26740235 PMID:26743743 PMID:26745801 PMID:26836830 PMID:26911353 PMID:26930420 PMID:26934379 PMID:26968818 PMID:26990548 PMID:27122458 PMID:27206868 PMID:27263301 PMID:27350676 PMID:27363342 PMID:27425820 PMID:27515321 PMID:27593222 PMID:27708273 PMID:27750387 PMID:27854212 PMID:27854218 PMID:27930565 PMID:28100912 PMID:28116794 PMID:28181471 PMID:28181689 PMID:28247318 PMID:28318817 PMID:28407826 PMID:28416588 PMID:28492532 PMID:28503591 PMID:28526893 PMID:28610567 PMID:28701297 PMID:28750076 PMID:28798025 PMID:28859693 PMID:28878337 PMID:28878402 PMID:29246534 PMID:29304097 PMID:29404407 PMID:29511324 PMID:29581631 PMID:29604111 PMID:29631625 PMID:29641567 PMID:29792937 PMID:29847600 PMID:29901616 PMID:29973226 PMID:30086531 PMID:30342905 PMID:30415094 PMID:30564623 PMID:30816495 PMID:30833962 PMID:31081998 PMID:31139960 PMID:31333075 PMID:31412794 PMID:31568572 PMID:31645977 PMID:31705731 PMID:31727011 PMID:32488064 PMID:32860008, PMID:3055295, PMID:25310701, PMID:22810924, PMID:24010700, PMID:25005781, PMID:23975932, PMID:9288751 RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type ClinVar PMID:25503501 PMID:25741868 PMID:26845104 PMID:28259476 PMID:28492532 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Utrn utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:6,451,809...6,970,040
Ensembl chr 1:6,451,810...6,970,040
JBrowse link
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
Dysferlinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Dysferlinopathy ClinVar PMID:8808603 PMID:9731526 PMID:10196377 PMID:11053681 PMID:11198284 PMID:11468312 PMID:11532985 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15477515 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17512949 PMID:17562833 PMID:17698709 PMID:17825554 PMID:17897828 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18392839 PMID:18832576 PMID:18853459 PMID:19084402 PMID:19309282 PMID:19493611 PMID:19528035 PMID:19594366 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:20981092 PMID:21173544 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22057634 PMID:22194990 PMID:22213072 PMID:22246893 PMID:22297152 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:25312915 PMID:25326637 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26444858 PMID:26467025 PMID:26579332 PMID:26620441 PMID:26671124 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:29997562 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
JBrowse link
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17620497 PMID:20474083 PMID:21697856 PMID:23395478 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:28492532, PMID:7894480 RGD:1598907 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:120,923,274...120,947,723
Ensembl chr 7:120,923,274...120,947,723
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:181350
ClinVar
CTD
PMID:10612827 PMID:10655060 PMID:10814726 PMID:11503164 PMID:12032588 PMID:12376891 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17107595 PMID:17274801 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24846508 PMID:25214167 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30055862 PMID:30165862, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
protein:altered localization:liver, Golgi (mouse)
ClinVar PMID:28492532, PMID:22541428, PMID:22541428 RGD:10044242, RGD:10044242 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:2521088 PMID:25210889 PMID:28492532 NCBI chr 7:120,950,391...120,967,583
Ensembl chr 7:120,951,560...120,967,490
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by OMIM:612998
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
DNA:deletion:cds:
ClinVar
CTD
PMID:26467025 PMID:28492532, PMID:19008300 RGD:13209003 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:226670
OMIM
ClinVar
PMID:8696340 PMID:8830774 PMID:8894687 PMID:10446808 PMID:10652002 PMID:15654962 PMID:15810881 PMID:18414213 PMID:19945614 PMID:20665883 PMID:21263134 PMID:23289980 PMID:23774525 PMID:24033266 PMID:25741868 PMID:25987458 PMID:26467025 PMID:27392081 PMID:28492532 PMID:29050564 PMID:29797489 PMID:31319225 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,599,001...117,601,894 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
JBrowse link
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Dcn decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22796148 NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fat1 FAT atypical cadherin 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lum lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frg1 FSHD region gene 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:53,957,858...53,978,865
Ensembl chr16:53,957,858...53,978,865
JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Weakness of facial musculature
ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:158901
OMIM
ClinVar
CTD
PMID:23143600 PMID:24075187 PMID:25256356 PMID:25370034 PMID:25741868 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:29980640 PMID:30327220 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD