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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 chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 PMID:25891276 PMID:28492532 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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
RGD
ClinVar
PMID:7720071 PMID:9150160 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 RGD:1600769 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G CAV3 caveolin 3 susceptibility ISO DNA:missense mutation, deletion RGD PMID:9537420 RGD:1599529 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
JBrowse link
G CHKB choline kinase beta ISO DNA:nonsense mutations, missense mutations, deletion:multiple RGD PMID:21665002 RGD:6483361 NCBI chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758
JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20716577 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
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
RGD
ClinVar
PMID:9536084 PMID:25741868 PMID:28492532 PMID:30564623 RGD:1600940 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G DAG1 dystroglycan 1 ISO protein:decreased glycosylation:skeletal muscle RGD PMID:11381262 RGD:1358757 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Muscular dystrophy
CTD
ClinVar
PMID:1549142 PMID:2063877 PMID:9327405 PMID:10465346 PMID:10797403 PMID:11185740 PMID:16030524 PMID:17440445 PMID:18752307 PMID:19449031 PMID:20031633 PMID:20301298 PMID:20805873 PMID:22906800 PMID:23299919 PMID:24033266 PMID:24135430 PMID:25244321 PMID:25741868 PMID:28492532 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G DTHD1 death domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23105016 PMID:28492532 NCBI chr 3:75,542,333...75,603,732
Ensembl chr 3:75,542,653...75,606,145
JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy RGD
ClinVar
PMID:9731526 PMID:21522182 PMID:24033266 PMID:25741868 PMID:27884173 PMID:28492532 RGD:1598789 NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
G FKRP fukutin related protein ISO DNA:missense mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Muscular dystrophy
RGD
ClinVar
PMID:11592034 PMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740 RGD:11064865 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FKTN fukutin ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:exon:multiple
DNA:missense mutations:exon:c.340G>A, c.527T>C (human)
DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple
CTD
RGD
PMID:10852541 PMID:16531417 PMID:19179078 PMID:19342235 PMID:20961758 RGD:11070464 RGD:11576323 RGD:11576325 RGD:11576326 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23768512 PMID:24033266 PMID:24780531 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:29437916 PMID:30060766 PMID:30684953 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 chr 9:10,201,625...10,220,688 JBrowse link
G LAMA2 laminin subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation, nonsense mutation
CTD
RGD
PMID:7550355 PMID:18074402 PMID:22906800 RGD:1600200 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy RGD
ClinVar
PMID:11381262 PMID:17878207 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1358757 NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC476149 nebulin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:52,720,427...52,921,064
Ensembl chr19:52,569,894...52,919,792
JBrowse link
G MYH2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr 5:34,810,791...34,838,177
Ensembl chr 5:34,810,921...34,837,904
JBrowse link
G MYH8 myosin heavy chain 8 ISO protein:increased expression:muscle: RGD PMID:3513005 RGD:12914761 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574
JBrowse link
G MYOT myotilin ISO Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 RGD PMID:10958653 RGD:1599673 NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO DNA:mutations: :multiple RGD PMID:16575835 RGD:11532686 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)
ClinVar Annotator: match by term: Muscular dystrophy
RGD
ClinVar
PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 RGD:11532760 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G PRIMA1 proline rich membrane anchor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 8:62,843,314...62,903,238
Ensembl chr 8:62,843,300...62,903,444
JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO RGD PMID:24789910 RGD:12859039 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,661,278...52,711,969
Ensembl chr19:52,661,155...52,709,279
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 2:74,134,448...74,149,585 JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Muscular dystrophy RGD
ClinVar
PMID:8069911 PMID:9192266 PMID:9744877 PMID:22303798 PMID:25741868 PMID:26934379 PMID:28492532 RGD:13605611 RGD:1599344 RGD:1599345 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
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 chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
JBrowse link
G SGCD sarcoglycan delta ISO Limb-girdle muscular dystrophies (LGMD), OMIM:601411 RGD PMID:8841194 RGD:1599341 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
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 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10235436 RGD:10449464 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
G TRIM63 tripartite motif containing 63 ISO mRNA:increased expression:muscle RGD PMID:24710205 RGD:14695084 NCBI chr 2:73,841,868...73,918,371
Ensembl chr 2:73,888,689...73,909,414
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 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 OMIM NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
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 OMIM NCBI chr 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240
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 OMIM NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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 OMIM NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
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 OMIM NCBI chr14:7,639,276...7,722,453
Ensembl chr14:7,639,558...7,722,351
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 OMIM NCBI chr32:6,401,266...6,408,006
Ensembl chr32:6,402,762...6,407,845
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 OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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 OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:18055493 PMID:18414213 PMID:18854868 PMID:18854869 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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 chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
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 chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:21465660 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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
RGD
ClinVar
PMID:17923109 RGD:11532762 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
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 chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
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 chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
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 chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
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 chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:27066507 PMID:28492532 PMID:28822653 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 OMIM NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
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 chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
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 OMIM NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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 OMIM NCBI chr12:62,597,020...62,615,062
Ensembl chr12:62,484,472...62,601,339
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 OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25326637 NCBI chr31:37,230,900...37,247,170 JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:27854218 PMID:28492532 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
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 chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G DYSF dysferlin ISO OMIM NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:30744660 NCBI chr37:25,811,491...25,818,838 JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
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 chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
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 OMIM
RGD
PMID:28284983 RGD:13605613 NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
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
IEA
Muscular dystrophy, limb-girdle, type R6 (LGMDR6) OMIM
OMIA
PMID:15474686 PMID:18371037 PMID:28702169 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
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 OMIM NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
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 OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591
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 OMIM NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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 9:52,944,925...52,966,953
Ensembl chr 9:52,947,570...52,966,894
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 9:53,266,396...53,276,236
Ensembl chr 9:53,266,401...53,276,677
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 9:52,805,512...52,818,197
Ensembl chr 9:52,805,927...52,818,190
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 9:53,073,859...53,106,266
Ensembl chr 9:53,073,027...53,103,937
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
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 9:52,970,313...53,028,817
Ensembl chr 9:52,970,306...53,028,821
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
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 9:52,781,110...52,796,763
Ensembl chr 9:52,781,020...52,796,433
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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 9:52,642,916...52,702,203
Ensembl chr 9:52,528,970...52,702,203
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 9:53,110,763...53,113,743
Ensembl chr 9:53,112,586...53,112,996
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 OMIM NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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 OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30937090 PMID:30961548 PMID:33175337 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G C20H3orf62 chromosome 20 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
JBrowse link
G C20H3orf84 chromosome 20 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
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 chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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 chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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 chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
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 chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
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 chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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 chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
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 chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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 chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
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 chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
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 OMIM NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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 OMIM NCBI chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
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 OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
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 chr19:22,958,778...22,968,489
Ensembl chr19:22,963,363...22,964,382
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765
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 OMIM NCBI chr12:62,542,274...62,581,110
Ensembl chr12:62,545,666...62,579,548
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 LOC106557472 torsin-1A-interacting protein 2-like ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161
JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 ISO OMIM NCBI chr 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307
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 OMIM NCBI chr33:23,122,682...23,150,863
Ensembl chr33:23,121,563...23,148,678
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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 OMIM NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:12632325 PMID:17259292 PMID:19206170 PMID:19793655 PMID:19937601 PMID:21396098 PMID:21399986 PMID:22910583 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:28878402 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
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 chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD
ClinVar
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID: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 chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
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 chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
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 chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622
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:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr25:47,783,241...47,796,806 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 chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
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 OMIM NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
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 OMIM NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477
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 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962
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 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557
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 OMIM NCBI chr 7:42,368,898...42,369,686 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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO OMIM
RGD
PMID:28714989 RGD:13605609 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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 chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC476149 nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,720,427...52,921,064
Ensembl chr19:52,569,894...52,919,792
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,661,278...52,711,969
Ensembl chr19:52,661,155...52,709,279
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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G ITGA7 integrin subunit alpha 7 ISO OMIM NCBI chr10:91,782...110,839
Ensembl chr10:91,391...110,817
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 OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
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 OMIM NCBI chr 9:45,660,445...45,680,407
Ensembl chr 9:45,660,446...45,680,363
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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
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 OMIM NCBI chr30:28,851,314...28,908,991
Ensembl chr30:28,851,374...28,908,940
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 OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 chr14:31,117,375...31,153,916
Ensembl chr14:31,118,013...31,153,874
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 chr14:31,154,285...31,217,193
Ensembl chr14:31,153,659...31,216,911
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
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 chr14:31,079,128...31,112,986
Ensembl chr14:31,079,220...31,112,982
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G FKRP fukutin related protein 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 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FKTN fukutin ISO 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 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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 OMIM NCBI chr10:6,630,076...6,648,387 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 OMIM NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903
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 chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357
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 chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914
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 chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991
JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229
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 chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125
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 chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
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 OMIM NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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 OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
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 OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 OMIM NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
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 OMIM NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
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 OMIM NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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 OMIM NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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 OMIM NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
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 chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616
JBrowse link
G FLNC filamin C ISO OMIM NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940
JBrowse link
G FRMD1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Myopathy, distal, 4 ClinVar PMID:25741868 NCBI chr 1:55,593,794...55,623,427 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 OMIM NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
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 chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986
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 OMIM NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
distal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
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 chr26:15,337,718...15,349,993
Ensembl chr26:15,336,864...15,355,757
JBrowse link
G LDB3 LIM domain binding 3 ISO DNA:missense mutation:exon:p.A165V (human) RGD PMID:17337483 RGD:11068981 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:15064763 PMID:15549395 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:18316077 PMID:18425620 PMID:18946002 PMID:18957892 PMID:19889647 PMID:20008656 PMID:21285398 PMID:21326314 PMID:21531138 PMID:21840889 PMID:22442078 PMID:22492563 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25326637 PMID:25403865 PMID:25741868 PMID:26085578 PMID:26307494 PMID:26382835 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:28660751 PMID:31188717 PMID:32963807 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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 chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G MYH7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type
ClinVar Annotator: match by term: Myopathy, distal, 1
CTD
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8533830 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10563488 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12379228 PMID:12566107 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12974739 PMID:12975413 PMID:15010274 PMID:15114369 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19412328 PMID:19645038 PMID:19880069 PMID:20031618 PMID:20086309 PMID:20350521 PMID:20474083 PMID:20664766 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22763267 PMID:22765922 PMID:22811549 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26220970 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26846766 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27884173 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28790153 PMID:28798025 PMID:28878402 PMID:29121657 PMID:29178653 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G NEFL neurofilament light ISO ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type ClinVar PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G TTN titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type
ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal muscle weakness
CTD
ClinVar
PMID:1745277 PMID:10053013 PMID:10462489 PMID:11717165 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:20890277 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24892279 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25447171 PMID:25498755 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25889363 PMID:25979592 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27585509 PMID:27788187 PMID:27854229 PMID:27868399 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:29099038 PMID:29221435 PMID:29361395 PMID:29540445 PMID:29590070 PMID:29970176 PMID:30535219 PMID:30847666 PMID:30924900 PMID:30993396 PMID:31127727 PMID:31215789 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
distal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
Distal Myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 ISO OMIM NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479
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 OMIM NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle
RGD PMID:7630355 PMID:11445638 PMID:15833425 RGD:11073211 RGD:11537476 RGD:11552581 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G DMD dystrophin treatment ISO
IEA
Muscular dystrophy, Duchenne type OMIM
RGD
OMIA
PMID:23784375 PMID:24010700 PMID:27634466 PMID:27735844 RGD:12880007 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G ITGA7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr10:91,782...110,839
Ensembl chr10:91,391...110,817
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 chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
JBrowse link
G POSTN periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
G STX1B syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G UTRN utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:35,727,531...36,225,533
Ensembl chr 1:35,677,814...36,224,065
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:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
Dysferlinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Dysferlinopathy ClinVar PMID:8808603 PMID:9731526 PMID:10196377 PMID:11053681 PMID:11198284 PMID:11468312 PMID:11532985 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15477515 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17512949 PMID:17562833 PMID:17698709 PMID:17825554 PMID:17897828 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18392839 PMID:18832576 PMID:18853459 PMID:19084402 PMID:19309282 PMID:19493611 PMID:19528035 PMID:19594366 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:20981092 PMID:21173544 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22057634 PMID:22194990 PMID:22213072 PMID:22246893 PMID:22297152 PMID:22616201 PMID:22849992 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25135358 PMID:25312915 PMID:25326637 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26444858 PMID:26467025 PMID:26579332 PMID:26620441 PMID:26671124 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27104310 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27363342 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28877744 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:29997562 PMID:30098242 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:32860008 NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7894480 PMID:17620497 PMID:20474083 PMID:21697856 PMID:23395478 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1598907 NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524
JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr10:26,074,969...26,103,520
Ensembl chr10:26,075,169...26,100,511
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy
CTD
ClinVar
RGD
PMID:10612827 PMID:10655060 PMID:10814726 PMID:11503164 PMID:12032588 PMID:12196663 PMID:12376891 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17107595 PMID:17274801 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24846508 PMID:25214167 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30055862 PMID:30165862 RGD:1580516 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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)
RGD
ClinVar
PMID:22541428 PMID:28492532 RGD:10044242 NCBI chr 6:15,996,061...16,047,788
Ensembl chr 6:15,997,488...16,047,687
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 chr10:26,055,508...26,074,972
Ensembl chr10:26,055,536...26,074,434
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:19008300 PMID:26467025 PMID:28492532 RGD:13209003 NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD
ClinVar
PMID:28492532 NCBI chr 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240
JBrowse link
G TMEM43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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 chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256
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 chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457
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 chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212
JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156
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 chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
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 chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
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 chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380
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 chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045
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 chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
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 chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345
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 chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257
JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973
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 chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
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 chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974
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 chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591
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 chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342
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 chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
JBrowse link
G PLEC plectin ISO OMIM NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657
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 chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456
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 chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
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 chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
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 chr13:37,530,211...37,550,797 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 chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
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 chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668
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 chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339
JBrowse link
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G DCN decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417
JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G HSP70 heat shock protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:1,285,282...1,287,670 JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
JBrowse link
G LUM lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr15:31,792,872...31,800,444
Ensembl chr15:31,793,233...31,800,912
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
JBrowse link
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRG1 FSHD region gene 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:41,361,347...41,381,088 JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 7:69,521,430...69,580,963 JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO OMIM NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G FKTN fukutin ISO OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
glycogen storage disease VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PFKM phosphofructokinase, muscle IEA
ISO
Glycogen storage disease VII OMIA
OMIM
PMID:1289336 PMID:1840037 PMID:2137952 PMID:2933748 PMID:2940948 PMID:2958437 PMID:2976895 PMID:3155631 PMID:7868469 PMID:8654960 PMID:8702726 PMID:10331362 PMID:11440399 PMID:16783707 PMID:19228357 PMID:21311071 PMID:22446493 NCBI chr27:6,620,300...6,640,649
Ensembl chr27:6,620,300...6,663,670
JBrowse link
GNE 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: Inclusion body myopathy quadriceps sparing ClinVar PMID:8755915 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO OMIM NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231
JBrowse link
G SQSTM1 sequestosome 1 ISO OMIM NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO OMIM NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO OMIM NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO OMIM NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGF epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23455423 RGD:10395280 NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
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 ClinVar PMID:23606453 PMID:24022920 PMID:25741868 PMID:28492532 PMID:31395899 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G BVES blood vessel epicardial substance ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:31119192 NCBI chr12:62,542,274...62,581,110
Ensembl chr12:62,545,666...62,579,548
JBrowse link
G CAV3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant
CTD
ClinVar
PMID:09536092 PMID:11251997 PMID:11884389 PMID:12847114 PMID:14672715 PMID:15318349 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:17556197 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23687351 PMID:30055862 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant
CTD
ClinVar
PMID:22366786 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
JBrowse link
G FKRP fukutin related protein ISO DNA:missense mutation:exon:p.R54W (160C>T) (human)
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy
RGD
ClinVar
PMID:11741828 PMID:12666124 PMID:14523375 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 RGD:11667959 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814726 PMID:12032588 PMID:30055862 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MYOT myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant
CTD
ClinVar
PMID:21336781 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
JBrowse link
G SGCD sarcoglycan delta severity ISO RGD PMID:10481911 RGD:13605616 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant ClinVar PMID:14672715 PMID:15318349 PMID:17556197 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986
JBrowse link
G TRAPPC11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 NCBI chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:18948003 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24395473 PMID:24892279 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHKB choline kinase beta ISO OMIM NCBI chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC481187 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:10852545 PMID:12529715 PMID:19853446 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO OMIM NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
Miyoshi 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: Miyoshi myopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G DYSF dysferlin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
ClinVar Annotator: match by term: Miyoshi myopathy
CTD
ClinVar
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 PMID:17868276 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 chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO OMIM NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO OMIM NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Miyoshi myopathy 3 ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
Muscular Dystrophy, Animal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22795790 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G FKRP fukutin related protein ISO DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) RGD PMID:20675713 PMID:21224063 RGD:11667960 RGD:11667970 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:20008564 RGD:10040985 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22795790 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
muscular dystrophy-dystroglycanopathy 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-dystroglycanopathy ClinVar PMID:2522420 PMID:22522420 PMID:25741868 PMID:28492532 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
RGD
ClinVar
PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 PMID:28492532 PMID:29437916 PMID:30257713 RGD:11530903 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 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 OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED 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:19067344 PMID:19299310 PMID:19679478 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23689641 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26938784 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMK protein O-mannose kinase ISO OMIM NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229
JBrowse link
Muscular Dystrophy-Dystroglycanopathy Type B15 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 OMIM NCBI chr 7:42,368,898...42,369,686 JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO OMIM NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
JBrowse link
MYH7-Related Scapuloperoneal Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263
JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G DES desmin ISO OMIM NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512
JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296
JBrowse link
myofibrillar myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOT myotilin ISO OMIM NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO OMIM NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
Myofibrillar Myopathy, ZASP-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related ClinVar PMID:11696561 PMID:14660611 PMID:14662268 PMID:15668942 PMID:16427346 PMID:17097056 PMID:17235623 PMID:17337483 PMID:17394203 PMID:17438622 PMID:18765652 PMID:19028670 PMID:19377068 PMID:19412328 PMID:20474083 PMID:20590677 PMID:20852297 PMID:21952291 PMID:22337857 PMID:22929165 PMID:23263837 PMID:23299917 PMID:23558691 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24647531 PMID:24668811 PMID:24730657 PMID:25041374 PMID:25163546 PMID:25208129 PMID:25214167 PMID:25326637 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:26350513 PMID:26419279 PMID:26467025 PMID:27135274 PMID:27435932 PMID:27532257 PMID:27561770 PMID:27618136 PMID:27884173 PMID:27896284 PMID:28349680 PMID:28492532 PMID:28798025 PMID:28821295 PMID:29032884 PMID:29247119 PMID:31078652 PMID:31333075 PMID:31568572 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
JBrowse link
Myopathy with Abnormal Lipid Metabolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO OMIM NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
JBrowse link
MYOPATHY, SCAPULOHUMEROPERONEAL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO OMIM NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
myotonia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Myotonia congenita
ClinVar Annotator: match by term: Myotonia levior
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7581380 PMID:7874130 PMID:7951215 PMID:7951242 PMID:7981750 PMID:8112288 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 PMID:8857733 PMID:9040658 PMID:9122265 PMID:9158157 PMID:9566422 PMID:9736066 PMID:9736777 PMID:10051520 PMID:10215406 PMID:10430417 PMID:10533075 PMID:10644771 PMID:10665666 PMID:10690989 PMID:10737121 PMID:10962018 PMID:11113225 PMID:11408615 PMID:11840191 PMID:11933197 PMID:12163078 PMID:12390967 PMID:12456816 PMID:12456818 PMID:12566541 PMID:12661046 PMID:14639587 PMID:15162127 PMID:15241802 PMID:15311340 PMID:15786415 PMID:15980168 PMID:16027167 PMID:16629771 PMID:17097617 PMID:17107341 PMID:17654559 PMID:17932099 PMID:17990293 PMID:18035046 PMID:18220014 PMID:18263754 PMID:18337100 PMID:18337730 PMID:18807109 PMID:19882638 PMID:19949657 PMID:20301529 PMID:20399394 PMID:21221019 PMID:21387378 PMID:21698652 PMID:22094069 PMID:22197187 PMID:22407275 PMID:22521272 PMID:22641783 PMID:22649220 PMID:22995991 PMID:23097607 PMID:23113340 PMID:23152584 PMID:23225051 PMID:23408874 PMID:23417379 PMID:23424641 PMID:23516313 PMID:23739125 PMID:23893571 PMID:23933576 PMID:24033266 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:24530047 PMID:24625573 PMID:24705798 PMID:24920213 PMID:25036107 PMID:25065301 PMID:25088311 PMID:25438602 PMID:25741868 PMID:25749817 PMID:25852444 PMID:26021757 PMID:26036855 PMID:26096614 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27066551 PMID:27098784 PMID:27142102 PMID:27199537 PMID:27266866 PMID:27296017 PMID:27415035 PMID:27580824 PMID:27614575 PMID:27927941 PMID:28427807 PMID:28492532 PMID:29606556 PMID:111113225 RGD:704389 NCBI chr16:6,342,772...6,373,580
Ensembl chr16:6,342,772...6,373,580
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myotonia congenita
CTD
ClinVar
PMID:1316765 PMID:25741868 NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
JBrowse link
Myotonia Congenita, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO OMIM NCBI chr16:6,342,772...6,373,580
Ensembl chr16:6,342,772...6,373,580
JBrowse link
Myotonia Congenita, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO OMIM NCBI chr16:6,342,772...6,373,580
Ensembl chr16:6,342,772...6,373,580
JBrowse link
myotonic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303
JBrowse link
G DMPK DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:109,824,103...109,834,986
Ensembl chr 1:109,824,597...109,834,976
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084293 NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
JBrowse link
myotonic dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMPK DM1 protein kinase ISO OMIM NCBI chr 1:109,824,103...109,834,986
Ensembl chr 1:109,824,597...109,834,976
JBrowse link
G LDB3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
JBrowse link
myotonic dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO OMIM NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303
JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO OMIM NCBI chr10:1,370,340...1,377,769