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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 Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 7:140,270,678...140,291,722
Ensembl chr 7:140,270,692...140,291,620
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:30311386, 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 Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
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 Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 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 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 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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:16770791, PMID:17041906, PMID:17440445, PMID:18752307, PMID:19449031, PMID:19937601, PMID:20031633, PMID:20301298, PMID:20805873, PMID:21515508, PMID:22906800, PMID:23299919, PMID:23536893, PMID:24033266, PMID:24135430, PMID:25244321, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 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 Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 3:95,733,810...95,954,987 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:30311386, 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 Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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 Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
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 Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
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 Pax6 paired box 6 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
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 Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
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 Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
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 Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
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 Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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 mRNA:increased expression:muscle RGD PMID:24710205 RGD:14695084 NCBI chr 5:152,533,362...152,547,138
Ensembl chr 5:152,533,349...152,547,179
JBrowse link
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, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:30311386 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
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: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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: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:30311386, 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:27197992, PMID:27305979, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28750076, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, 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
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, PMID:30311386 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 OMIM
ClinVar
PMID:9150160, PMID:10330340, PMID:18055493, PMID:19556129, PMID:22443334, PMID:26467025, PMID:27259757, 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: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, PMID:30311386 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 Annotator: match by term: Limb-girdle muscular dystrophy autosomal 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, PMID:30311386 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, PMID:30311386 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:23861362, PMID:24001739, PMID:24033266, PMID:24721642, PMID:25741868, PMID:26467025, PMID:26602028, PMID:27896052, PMID:28492532, PMID:28679633, PMID:28785654, PMID:30311386 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:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 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:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 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: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: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:30311386, 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 Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637, PMID:25741868 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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: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:24488599, PMID:24838345, PMID:25135358, PMID:25143362, PMID:25312915, PMID:25326637, PMID:25493284, 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:26404900, PMID:26436962, PMID:26467025, PMID:26579332, PMID:26671124, PMID:26806107, PMID:26916285, PMID:27066573, 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:30311386, 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: Duchenne-like autosomal recessive muscular dystrophy, type 2
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:30311386, 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: 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: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 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, PMID:30311386 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, PMID:30311386 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:17446099, PMID:17554798, PMID:17559086, PMID:17952692, PMID:17994539, 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: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:25048216, PMID:25560911, PMID:25741868, PMID:25987458, PMID:26363967, PMID:26436962, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:27439679, PMID:27671536, PMID:27848944, PMID:27854218, PMID:27884173, PMID:28454995, PMID:28492532, PMID:28688748, PMID:28931339, PMID:30003095, PMID:30311386, 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:17976239, 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: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: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: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: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:29361395, PMID:29386531, PMID:29447731, PMID:29540445, PMID:29691892, PMID:29970176, PMID:30311386, PMID:30371277, PMID:30429050, PMID:30535219, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 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, PMID:30311386 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:30311386, 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: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:30311386, 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 Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:16835936, PMID:19006240, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26038974, PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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
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 Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:18487244, PMID:21301859, PMID:21880868, PMID:22000311, PMID:22114710, PMID:22357363, PMID:24033266, PMID:24508722, PMID:25203713, PMID:25741868, PMID:26095671, PMID:27854218, PMID:27987238, PMID:28337550, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
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: 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:30311386, PMID:30937090, PMID:30961548 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: 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:30311386, PMID:30937090, PMID:30961548 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:30311386, 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:21109228, PMID:25741868, PMID:28492532, PMID:30311386, 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:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, 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: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:7981747, PMID:8223790, PMID:8279470, PMID:8281150, PMID:8301652, PMID:8322822, PMID:8401537, PMID:8504498, PMID:8652023, PMID:8840119, PMID:8902723, PMID:9170393, PMID:9224530, PMID:9410897, PMID:9544849, PMID:10832829, PMID:11039581, PMID:11053684, PMID:11404124, PMID:11710958, PMID:11879882, PMID:12522557, PMID:12632325, PMID:12754707, PMID:14600829, 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:23092449, PMID:23263593, 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:28580208, PMID:28859693, PMID:28878402, PMID:29581631, PMID:29641567, PMID:29973226 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:17259292, PMID:19937601, PMID:23757202, PMID:24033266, PMID:25447171, PMID:25741868, PMID:26467025, PMID:28492532 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
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:11865138, PMID:15689448, PMID:16130093, PMID:18414213, PMID:18852439, PMID:19949035, PMID:20302629, PMID:20981092, PMID:22426012, PMID:23040494, PMID:23564457, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28492532, PMID:30311386, 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:10329467, PMID:10419498, 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:18852439, PMID:19344236, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20301468, PMID:20302629, PMID:20576434, PMID:20882040, PMID:20976770, PMID:20981092, PMID:21280092, PMID:21520333, PMID:22075033, PMID:22426012, PMID:22975586, PMID:23040494, PMID:23326386, PMID:23564457, 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:30311386, 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: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:11381124, PMID:11865138, PMID:11932968, PMID:15563506, PMID:15689448, PMID:16935502, PMID:17537636, PMID:17785673, PMID:17886299, PMID:18366090, PMID:18378883, PMID:18414213, PMID:18825676, PMID:18852439, PMID:19344236, PMID:19564581, PMID:19949035, PMID:20976770, PMID:20981092, PMID:21280092, PMID:22995991, PMID:23040494, PMID:23175733, PMID:23564457, 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:30311386, 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: Muscular dystrophy, congenital, merosin-deficient 1A
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:30311386, 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
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, PMID:30311386 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 ClinVar PMID:22265013, PMID:24677762, PMID:24773188, PMID:25741868, PMID:27149304, PMID:28492532, PMID:28617417, PMID:30311386, 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, PMID:30311386 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:30311386, 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, PMID:30311386 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:30311386, 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: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:30311386, 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:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, 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, PMID:30311386 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, PMID:30311386 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:30311386, 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 Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
PMID:11320179, PMID:12369018, PMID:15037715, PMID:15637732, PMID:16575835, PMID:16717220, PMID:17559086, PMID:17869517, PMID:17878207, PMID:18414213, PMID:18513969, PMID:18640039, PMID:18752264, PMID:19222032, PMID:19299310, PMID:20816175, PMID:22323514, PMID:22549409, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25326635, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:28556411, PMID:30311386, 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, PMID:30311386 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:24084573, 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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
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:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
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, PMID:30311386 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:21520333, PMID:21620354, PMID:24033266, PMID:25741868, PMID:26436962, PMID:26467025, PMID:27296017, PMID:28356264, PMID:28492532, PMID:30311386 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:26467025, PMID:26806107, PMID:26916285, PMID:27602406, PMID:27647186, 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:30311386, 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, PMID:30311386 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:22961002, PMID:25342199, PMID:26182879, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
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 myopathy Markesbery-Griggs type
ClinVar Annotator: match by term: Distal muscle weakness
ClinVar PMID:15064763, PMID:15549395, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, 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:24862862, PMID:24863639, PMID:25025039, 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:30311386, 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:30311386, PMID:30511546, PMID:30871747, PMID:31333075, 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, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:30311386 NCBI chr 9:96,210,750...96,288,903
Ensembl chr 9:96,210,750...96,288,903
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:19608031, 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:26701604, PMID:26718681, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27585509, PMID:27788187, PMID:27854218, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, 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:29970176, PMID:30311386, PMID:30535219, PMID:30924900, PMID:30993396, PMID:31127727 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:30311386, PMID:30511546, PMID:30871747, PMID:31333075, 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 ClinVar
OMIM
PMID:25741868, PMID:26506222 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:2677830, 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:7981747, PMID:8034300, PMID:8149204, PMID:8160755, PMID:8199594, PMID:8223790, 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:8652023, PMID:8784808, PMID:8789442, PMID:8840119, PMID:8902723, PMID:9007319, PMID:9028449, PMID:9040743, PMID:9067763, PMID:9073314, PMID:9143930, PMID:9170393, PMID:9170407, PMID:9195228, PMID:9224530, 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:11404124, PMID:11409318, PMID:11409421, PMID:11524473, PMID:11710958, PMID:11879882, 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:12966700, PMID:13679720, PMID:14571009, PMID:14600829, 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: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:23092449, PMID:23251671, PMID:23263593, 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:28580208, 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:30311386, 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 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:30311386, 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 Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked, UMLS OMIM term: EMD1
ClinVar
CTD
PMID:7894480, PMID:8595406, PMID:8655156, PMID:9536090, PMID:10323252, PMID:10382909, PMID:10393813, PMID:17067998, PMID:19997654, PMID:21697856, PMID:25741868, PMID:26415001, PMID:26675233, 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: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
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: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:30311386, 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 with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by term: EPIDERMOLYSIS 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:20052759, PMID:20665883, PMID:21109228, PMID:21263134, PMID:23289980, PMID:23774525, PMID:24033266, PMID:25454730, PMID:25556389, PMID:25741868, PMID:25987458, PMID:26467025, PMID:27392081, PMID:27766310, PMID:28447722, PMID:28492532, PMID:29050564, PMID:29797489, PMID:30311386, 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