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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 myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)
Synonyms:exact_synonym: muscular dystrophies;   myodystrophica;   myodystrophies;   myodystrophy
 xref: EFO:0000757;   GARD:7922;   MESH:D009136;   MONDO:0020121;   NCI:C84910


show annotations for term's descendants           Sort by:
muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:21186264 PMID:23606453 PMID:25741868 PMID:25891276 PMID:26886200 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Capn3 calpain 3 susceptibility ISO Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations
ClinVar Annotator: match by term: Muscular dystrophy		 ClinVar
RGD		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... RGD:1600769 NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Cav3 caveolin 3 susceptibility ISO DNA:missense mutation, deletion RGD PMID:9537420 RGD:1599529 NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Chkb choline kinase beta ISO DNA:nonsense mutations, missense mutations, deletion:multiple
DNA:deletion
ClinVar Annotator: match by term: Muscular dystrophy		 ClinVar
RGD		 PMID:25741868 PMID:21665002 PMID:21750112 RGD:6483361, RGD:6483363 NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20716577 NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:24801232 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:missense mutation
ClinVar Annotator: match by term: Muscular dystrophy		 ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30564623 More... RGD:1600940 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:decreased glycosylation:skeletal muscle RGD PMID:11381262 RGD:1358757 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		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 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23105016 PMID:28492532 NCBI chr14:50,773,694...50,877,217 JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar
RGD		 PMID:17698709 PMID:20301480 PMID:21522182 PMID:24033266 PMID:25741868 More... RGD:1598789 NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Fkrp fukutin related protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416
DNA:missense mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Muscular dystrophy		 CTD
MouseDO
ClinVar
RGD		 PMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:29571322 More... RGD:11064865 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:c.340G>A, c.527T>C (human)
DNA:missense mutations, nonsense mutation:exon:multiple
DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple		 CTD
RGD		 PMID:16531417 PMID:10852541 PMID:19342235 PMID:19179078 PMID:20961758 RGD:11576326, RGD:11576325, RGD:11576323, RGD:11070464 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar NCBI chr10:105,028,106...105,045,365
Ensembl chr10:104,529,747...104,546,836 		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 More... NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		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:25741868 PMID:28492532 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625 		JBrowse link
G Lama2 laminin subunit alpha 2 susceptibility ISO DNA:splice-site mutation, nonsense mutation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy		 CTD
ClinVar
RGD		 PMID:18074402 PMID:22906800 PMID:25741868 PMID:28492532 PMID:7550355 RGD:1600200 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar
RGD		 PMID:17878207 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 More... RGD:1358757 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:8619549 PMID:9106535 PMID:10080180 PMID:10739764 PMID:10814726 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr10:52,355,739...52,382,235
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Myh8 myosin heavy chain 8 ISO protein:increased expression:muscle: RGD PMID:3513005 RGD:12914761 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Myot myotilin ISO Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 RGD PMID:10958653 RGD:1599673 NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:18414213 PMID:25205138 PMID:25741868 PMID:28492532 PMID:31980526 More... NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) RGD PMID:17030669 RGD:1599152 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:mutations: :multiple RGD PMID:16575835 RGD:11532686 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		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		 ClinVar
RGD		 PMID:15894594 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... RGD:11532760 NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 6:128,094,686...128,155,592
Ensembl chr 6:122,338,370...122,389,921 		JBrowse link
G Pten phosphatase and tensin homolog treatment ISO RGD PMID:24789910 RGD:12859039 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25205138 PMID:25741868 PMID:28492532 PMID:31980526 PMID:32721234 More... NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:36,554,697...36,603,617 		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:16199547 More... NCBI chr 5:152,032,330...152,046,707
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar
RGD		 PMID:7668821 PMID:8069911 PMID:9032047 PMID:9192266 PMID:12746421 More... RGD:1599344, RGD:1599345, RGD:13605611 NCBI chr10:80,397,158...80,416,165
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcb sarcoglycan, beta ISO autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 RGD PMID:9631401 RGD:1599343 NCBI chr14:34,917,663...34,932,661
Ensembl chr14:34,563,608...34,578,583 		JBrowse link
G Sgcd sarcoglycan, delta ISO Limb-girdle muscular dystrophies (LGMD), OMIM:601411
ClinVar Annotator: match by term: Muscular dystrophy		 ClinVar
RGD		 PMID:25741868 PMID:8841194 RGD:1599341 NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665 		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 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10235436 RGD:10449464 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23830518 PMID:25326635 PMID:25741868 PMID:26322222 PMID:26912795 More... NCBI chr16:51,465,631...51,512,003
Ensembl chr16:44,733,169...44,779,322 		JBrowse link
G Trim32 tripartite motif-containing 32 susceptibility ISO Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N RGD PMID:11822024 RGD:1624127 NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Trim63 tripartite motif containing 63 IEP
IMP		 mRNA:increased expression:muscle
dexamethaso-induced and hindlimb denervation		 RGD PMID:24710205 PMID:24710205 RGD:14695084, RGD:14695084 NCBI chr 5:151,817,209...151,831,026
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Trim63em1(hiLuc) tripartite motif containing 63; ZFN targeted mutation 1 IMP dexamethaso-induced and hindlimb denervation RGD PMID:24710205 RGD:14695084
G Ttn titin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:27869827 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Adult-Onset Muscular Dystrophy with Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:99,184,109...99,197,291 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606070
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)		 ClinVar
OMIM
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... RGD:2306094, RGD:12791020, RGD:12791273, RGD:11062274 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:123,977,625...123,992,825 		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 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 More... NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant OMIM
ClinVar		 PMID:18230648 PMID:18313022 PMID:18414213 PMID:20435227 PMID:21214875 More... NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT		 ClinVar
OMIM
RGD		 PMID:1975 PMID:177788 PMID:564455 PMID:737223 PMID:901918 More... RGD:12792959 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant ClinVar PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:31071488 More... NCBI chr 4:59,108,278...59,197,012
Ensembl chr 4:58,143,001...58,220,433 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:16199547 More... NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:5,452,683...5,556,659 		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 Atp6v1f ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:59,033,020...59,035,980 JBrowse link
G Calu calumenin ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:57,948,997...57,976,593 		JBrowse link
G Ccdc136 coiled-coil domain containing 136 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:58,963,196...58,992,962
Ensembl chr 4:57,997,853...58,027,646 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Kcp kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:59,048,209...59,083,522
Ensembl chr 4:58,082,857...58,109,768 		JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:58,942,685...58,945,825
Ensembl chr 4:57,977,313...57,980,457 		JBrowse link
G Tnpo3 transportin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 More... NCBI chr 4:59,108,278...59,197,012
Ensembl chr 4:58,143,001...58,220,433 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr14:9,861,716...9,867,945
Ensembl chr14:9,557,425...9,562,506 		JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: CAPN3-related disorder | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM
ClinVar		 PMID:2725975 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2733290 PMID:4684700 PMID:4740717 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		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: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:23541687 PMID:25351777 PMID:25741868 PMID:28492532 PMID:29921608 More... NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:2764718 PMID:9536098 PMID:9731526 PMID:10766988 PMID:11257469 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:10838249 PMID:11592034 PMID:11741828 PMID:12666124 PMID:12707425 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:9536098 PMID:11102973 PMID:12920062 PMID:15475483 PMID:15998779 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:1236901 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15522202 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar
RGD		 PMID:15894594 PMID:16199547 PMID:17878207 PMID:17923109 PMID:18414213 More... RGD:11532762 NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		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 PMID:28492532 NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... NCBI chr10:80,397,158...80,416,165
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 More... NCBI chr14:34,917,663...34,932,661
Ensembl chr14:34,563,608...34,578,583 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:8841194 PMID:10735275 PMID:10838250 PMID:10974018 PMID:12794684 More... NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:1303286 PMID:7481775 PMID:8923014 PMID:9536098 PMID:9673983 More... NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:23830518 PMID:26322222 PMID:28327206 PMID:28492532 PMID:30105108 NCBI chr16:51,465,631...51,512,003
Ensembl chr16:44,733,169...44,779,322 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:23541687 PMID:25351777 PMID:25741868 PMID:28492532 PMID:29921608 More... NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:22335739 PMID:22526018 PMID:23396983 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar NCBI chr 3:35,936,328...35,942,213
Ensembl chr 3:15,538,591...15,544,465 		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 L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 ClinVar PMID:25741868 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM
ClinVar		 PMID:8957020 PMID:9158149 PMID:9536098 PMID:9541105 PMID:9674786 More... NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 ClinVar PMID:9536098 PMID:17576681 PMID:23830518 PMID:25741868 PMID:28492532 More... NCBI chr16:51,465,631...51,512,003
Ensembl chr16:44,733,169...44,779,322 		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 cAMP effector 3 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM
ClinVar		 PMID:31610034 PMID:35075722 PMID:35842834 PMID:37104941 NCBI chr20:50,354,775...50,383,050
Ensembl chr20:48,772,462...48,800,593 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: JAG2-related condition | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33861953 NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: SNUPN deficiency muscular dystrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 8:66,242,940...66,286,651
Ensembl chr 8:57,348,130...57,380,912 		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
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
CTD Direct Evidence: marker/mechanism
OMIM:253600		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1691480 PMID:2725975 PMID:3258171 PMID:7318636 PMID:7720071 More... RGD:734687 NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A ClinVar PMID:25326637 PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Ganc glucosidase, alpha; neutral C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A ClinVar PMID:10330340 PMID:15689361 PMID:28492532 NCBI chr 3:127,807,132...127,858,995
Ensembl chr 3:107,353,369...107,405,241 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25500235 PMID:25741868 PMID:26820064 PMID:27854218 PMID:28492532 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Palld palladin, cytoskeletal associated protein ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25326637 PMID:28492532 NCBI chr16:33,238,943...33,632,236
Ensembl chr16:27,981,354...28,621,337 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Dysf dysferlin ISO
ISS		 OMIM:253601
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:1483054 PMID:1707005 PMID:2606004 PMID:2764718 PMID:2766772 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3		 ClinVar PMID:16199547 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:28492532 PMID:31263448 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		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 Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:18285821 PMID:19770540 PMID:22095924 PMID:28492532 NCBI chr15:39,102,301...39,227,915
Ensembl chr15:34,926,207...35,051,727 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:16832103 PMID:18285821 PMID:18398442 PMID:18414213 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgcg sarcoglycan, gamma ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Maghrebian myopathy | ClinVar Annotator: match by term: SGCG-related condition
OMIM:253700
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1303286 PMID:3076484 PMID:7481775 PMID:8923014 PMID:8968757 More... RGD:13605619 NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:18285821 PMID:19770540 PMID:22095924 PMID:28492532 NCBI chr15:39,268,305...39,334,566
Ensembl chr15:35,092,206...35,180,795 		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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:25106685 PMID:28492532 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgca sarcoglycan, alpha treatment ISO
ISS		 ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy
OMIM:608099
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr10:80,397,158...80,416,165
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:17584854 PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 More... NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186 		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
ISS		 OMIM:604286
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605614, RGD:13605613 NCBI chr14:34,917,663...34,932,661
Ensembl chr14:34,563,608...34,578,583 		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
ISS		 OMIM:601287
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,280,511...31,724,840 		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
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
OMIM:601954
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,381,719...83,382,887 		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: Autosomal recessive limb-girdle muscular dystrophy type 2H | ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2H | ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition
CTD Direct Evidence: marker/mechanism
OMIM:254110		 OMIM
ClinVar
CTD
MouseDO		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:78,999,389...79,022,018 		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
ISS		 DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
OMIM:607155
DNA:missense mutation: :pP89A (human)
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)
DNA:deletion, missense mutations, nonsense mutation: :multiple
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:duplications, missense mutations:exon:multiple		 ClinVar
MouseDO
OMIM
RGD		 PMID:10838249 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 More... RGD:11667964, RGD:11667966, RGD:11063285, RGD:11667963, RGD:11667961, RGD:1598944, RGD:11667967, RGD:11667965 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I ClinVar PMID:25741868 PMID:32190976 PMID:36543139 PMID:36651276 NCBI chr 1:86,614,193...86,639,959
Ensembl chr 1:77,482,094...77,511,858 		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 Axin2 axin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25741868 PMID:26467025 PMID:27153395 PMID:27854218 PMID:28492532 More... NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 More... NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 ClinVar PMID:25326637 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:159,659,242...159,688,018 		JBrowse link
G Ttn titin ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Autosomal recessive titinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
OMIM:608807
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1745277 PMID:3125138 PMID:9536098 PMID:9804419 PMID:10053013 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Aif1l allograft inflammatory factor 1-like ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,627,239...35,651,793
Ensembl chr 3:15,229,524...15,254,023 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:14,962,917...14,973,575 		JBrowse link
G Fam78a family with sequence similarity 78, member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,753,712...35,771,600
Ensembl chr 3:15,355,955...15,373,812 		JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,490,459...35,524,142
Ensembl chr 3:15,092,681...15,126,399 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,562,989...35,624,460
Ensembl chr 3:15,165,220...15,226,697 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,652,841...35,738,323
Ensembl chr 3:15,255,119...15,340,568 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,782,215...35,796,577
Ensembl chr 3:15,384,492...15,398,883 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,322,962...35,341,878
Ensembl chr 3:14,928,628...14,943,331 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,831,017...35,916,854
Ensembl chr 3:15,465,294...15,519,104 		JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 3:35,485,579...35,487,902
Ensembl chr 3:15,088,045...15,088,425 		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
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
OMIM:611307
CTD Direct Evidence: marker/mechanism
DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)
DNA:duplications, nonsense mutation, missense mutation:exon:multiple
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... RGD:11570558, RGD:11570561, RGD:11066746 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Fktn fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 OMIM
ClinVar		 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17576681 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		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 Lurap1 leucine rich adaptor protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O ClinVar PMID:19299310 PMID:20816175 PMID:21447391 PMID:26908613 PMID:27391550 More... NCBI chr 5:134,855,643...134,865,366
Ensembl chr 5:129,614,137...129,628,766 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED OMIM
ClinVar		 PMID:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED ClinVar PMID:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		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: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,002,336...118,019,337
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Dag1 dystroglycan 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
OMIM:613818		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10875918 PMID:14678799 PMID:16112887 PMID:17576681 More... NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:109,261,363...109,263,194 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:109,217,376...109,261,359 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:109,268,079...109,274,499 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 OMIM
ClinVar		 PMID:9536098 PMID:10652002 PMID:11851880 PMID:15206692 PMID:15810881 More... NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		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 subunit 11 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: TRAPPC11-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 More... NCBI chr16:51,465,631...51,512,003
Ensembl chr16:44,733,169...44,779,322 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 OMIM
ClinVar		 PMID:16199547 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 More... NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		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
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U
OMIM:616052		 OMIM
ClinVar
MouseDO		 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 More... NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		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 Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:24,157,831...24,188,543
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr18:23,850,460...23,857,381
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:23,969,352...24,011,560
Ensembl chr18:23,695,425...23,736,172 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar Annotator: match by term: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25589244 PMID:25741868 More... NCBI chr18:23,828,164...23,866,363
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Map3k2 mitogen activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:24,081,444...24,153,940
Ensembl chr18:23,807,218...23,871,433 		JBrowse link
G Myo7b myosin VIIb ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:23,862,533...23,944,081
Ensembl chr18:23,588,307...23,669,809 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:24,038,596...24,049,061
Ensembl chr18:23,764,368...23,775,133 		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 Popdc1 popeye domain cAMP effector 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: BVES-related condition OMIM
ClinVar		 PMID:25741868 PMID:26642364 PMID:28492532 PMID:31119192 PMID:35660068 NCBI chr20:50,401,611...50,442,653
Ensembl chr20:48,822,308...48,857,472 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y OMIM
ClinVar		 PMID:4856141 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24856141 More... NCBI chr13:70,746,941...70,776,382
Ensembl chr13:68,196,681...68,225,862 		JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y ClinVar PMID:24856141 PMID:25193337 NCBI chr13:70,775,483...70,806,794
Ensembl chr13:68,230,009...68,256,536
Ensembl chr13:68,230,009...68,256,536 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z | ClinVar Annotator: match by term: POGLUT1-related condition OMIM
ClinVar		 PMID:24387993 PMID:25741868 PMID:27807076 PMID:28492532 PMID:29569780 More... NCBI chr11:75,704,119...75,731,964
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,951,104...218,983,495
Ensembl chr 2:216,276,631...216,309,013 		JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:219,019,025...219,049,648
Ensembl chr 2:216,343,822...216,375,242 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:151,475,907...151,479,361
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,767,205...218,769,772
Ensembl chr 2:216,093,363...216,094,154 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500		 OMIM
ClinVar
MouseDO		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,927,724...218,942,111
Ensembl chr 2:216,234,774...216,267,841 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:216,013,005...216,074,750 		JBrowse link
Becker disease 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: Becker disease | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive OMIM
ClinVar		 PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Fam131b family with sequence similarity 131, member B ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form ClinVar PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 More... NCBI chr 4:72,167,667...72,176,924
Ensembl chr 4:71,201,038...71,210,228 		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
ISS		 ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Becker's muscular dystrophy | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type
OMIM:300376		 OMIM
ClinVar
MouseDO		 PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709 		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
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810		 CTD
ClinVar
MouseDO		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 1A 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 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,487,382...97,922,870
Ensembl chr 9:90,039,605...90,470,958 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,869,899...100,924,030
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,364,915...101,392,711
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,001,939...101,007,425
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,566,852...99,588,321
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Asb18 ankyrin repeat and SOCS box-containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,979,018...98,043,609
Ensembl chr 9:90,531,596...90,595,848 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,729,772...101,761,456
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,670,729...101,681,834
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:25741868 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar
OMIM
RGD		 PMID:963533 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 More... RGD:1600934 NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,655,031...98,664,861
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,657,276...100,662,206
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,796,287...101,815,727
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,920,249...100,921,624 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,404,512...99,412,383
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,358,907...99,385,439
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,501,061...101,609,092
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,823,815...101,836,507
Ensembl chr 9:94,376,174...94,389,174 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,957,304...97,959,883
Ensembl chr 9:90,509,633...90,512,212 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,843,645...100,871,458
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,974,580...100,995,330
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,449,375...99,451,343
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,413,981...99,436,262
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,772,845...101,793,734
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Iqca1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,074,389...98,190,233
Ensembl chr 9:90,626,744...90,742,618 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,389,982...99,400,295
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:20848652 PMID:25741868 PMID:32524016 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,039,590...99,167,805
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,138,408...101,148,516
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,955,036...98,990,566
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,281,560...101,286,236
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,844,261...101,849,917
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,495,938...100,496,876
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,664,378...100,667,882
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,291,673...101,333,288
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,333,472...101,358,589
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,991,628...98,996,515
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,001,044...99,014,340
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,213,031...99,263,696
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,178,706...99,204,344
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,921,053...100,933,748
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,337,796...99,358,487
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,465,535...101,498,766
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,221,497...101,281,401
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,609,218...101,621,458
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,689,935...101,729,656
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,293,506...99,328,690
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B ClinVar
OMIM		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:28306225 More... NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Collagen VI-related Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:15563506 PMID:15689448 PMID:16141002 PMID:16935502 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15		 OMIM
CTD
ClinVar		 PMID:19576565 PMID:25741868 PMID:28492532 PMID:28803818 PMID:29246662 More... NCBI chr 2:176,974,290...176,974,805
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		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 Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative ClinVar PMID:21681106 PMID:25666259 PMID:27854218 NCBI chr 2:146,293,449...146,351,061
Ensembl chr 2:144,135,319...144,174,734 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A ClinVar PMID:21665257 PMID:24448499 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A ClinVar PMID:21665257 PMID:24448499 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient ClinVar PMID:25741868 NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO
ISS		 ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative
OMIM:607855
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 More... RGD:13605609 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy ClinVar PMID:124622 PMID:12826609 PMID:25326637 PMID:25741868 PMID:26619011 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		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 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254100 MouseDO NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		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 More... NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy		 ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:10612827 PMID:10739764 PMID:10939567 PMID:11503164 PMID:12032588 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:36,613,716...36,811,574 		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:17878207 PMID:18195152 PMID:18691338 PMID:19067344 PMID:20981092 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:36,554,697...36,603,617 		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 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Itga7 integrin subunit alpha 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613204
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 More... RGD:13601979 NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G Tmt1b thiol methyltransferase 1B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr 7:1,973,334...1,975,980
Ensembl chr 7:1,388,879...1,391,526 		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
ISS		 ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
OMIM:613205
CTD Direct Evidence: marker/mechanism
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:12791283 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		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:9536098 PMID:9541105 PMID:9674786 More... NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability | ClinVar Annotator: match by term: INPP5K-related condition OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr10:60,974,183...60,995,047
Ensembl chr10:60,475,897...60,496,773 		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 Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr10:52,384,810...52,408,698
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
Congenital Muscular Dystrophy with Rapid Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression OMIM
ClinVar		 PMID:25741868 PMID:34779586 NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:32,116,235...32,126,617 		JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type | ClinVar Annotator: match by term: TRIP4-Related Disorders OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr 8:75,248,352...75,334,802
Ensembl chr 8:66,353,248...66,439,774 		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:16199547 PMID:16427280 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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:16199547 PMID:16427280 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		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 A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | 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 A1 ClinVar PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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 A1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		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 Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		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:25741868 PMID:26663670 PMID:28492532 PMID:33290285 NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		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, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:72,807,967...72,840,180
Ensembl chr16:66,105,181...66,136,138 		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 chr16:72,656,929...72,751,696
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388 		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 chr16:72,631,638...72,656,893
Ensembl chr16:65,928,895...65,954,083 		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 chr16:72,608,096...72,612,690
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 1:86,614,193...86,639,959
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID:12966029 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 More... NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type 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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:58,616,251...58,657,634
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:58,555,362...58,615,921
Ensembl chr 6:52,827,661...52,888,628 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM
ClinVar		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:58,662,611...58,722,844
Ensembl chr 6:52,935,387...52,995,540 		JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:58,778,623...58,782,797
Ensembl chr 6:53,051,354...53,055,579 		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 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,877,834...130,903,947
Ensembl chr 8:122,000,389...122,026,447 		JBrowse link
G Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,438,703...130,451,106
Ensembl chr 8:121,561,211...121,573,582 		JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,719,177...130,838,243
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,335,797...130,391,658
Ensembl chr 8:121,457,697...121,502,337 		JBrowse link
G Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,031,012...130,037,702
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,455,622...130,457,592
Ensembl chr 8:121,557,062...121,580,166 		JBrowse link
G Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,488,279...130,521,242
Ensembl chr 8:121,610,787...121,642,942 		JBrowse link
G Hhatl hedgehog acyltransferase-like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,324,510...130,331,580
Ensembl chr 8:121,447,002...121,454,001 		JBrowse link
G Higd1a HIG1 hypoxia inducible domain family, member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,391,658...130,400,888
Ensembl chr 8:121,514,156...121,523,443 		JBrowse link
G Klhl40 kelch-like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,318,793...130,324,309
Ensembl chr 8:121,441,287...121,446,800 		JBrowse link
G Krbox1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,474,743...130,481,529
Ensembl chr 8:121,597,319...121,604,027 		JBrowse link
G Lyzl4 lysozyme-like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,125,641...130,132,872
Ensembl chr 8:121,248,168...121,255,353 		JBrowse link
G Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,255,541...130,298,001
Ensembl chr 8:121,382,436...121,418,314 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chr 8:130,522,607...130,538,273
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,223,349...130,249,079
Ensembl chr 8:121,350,107...121,370,925 		JBrowse link
G Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,657,204...130,711,461
Ensembl chr 8:121,793,302...121,832,323 		JBrowse link
G Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,252,774...130,255,388
Ensembl chr 8:121,375,308...121,377,877 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:129,548,431...129,843,555
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:121,310,248...121,339,585 		JBrowse link
G Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:130,300,255...130,311,874
Ensembl chr 8:121,423,696...121,433,225 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: DAG1-related condition | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
congenital myasthenic syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:254300
ClinVar Annotator: match by term: Congenital myasthenic syndrome 10		 OMIM
CTD
MouseDO
ClinVar		 PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr14:79,890,051...79,924,081
Ensembl chr14:75,666,744...75,699,386 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY		 OMIM
CTD
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
distal myopathy 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: Distal muscle weakness ClinVar PMID:22499103 PMID:25741868 PMID:25891276 PMID:26886200 PMID:27447704 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
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 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 ISS MouseDO NCBI chr 2:243,790,296...243,819,042
Ensembl chr 2:241,130,340...241,159,089 		JBrowse link
G Dysf dysferlin ISS OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 MouseDO NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12325071 PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:25741868 PMID:26976520 PMID:28501893 PMID:29029362 NCBI chr12:45,835,899...45,866,449
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Ldb3 LIM domain binding 3 ISO DNA:missense mutation:exon:p.A165V (human) RGD PMID:17337483 RGD:11068981 NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166 		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 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:7688964 PMID:8644725 PMID:10545037 PMID:10581375 PMID:11437164 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | 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, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY		 CTD
ClinVar		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1052196 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Distal muscle weakness | 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 | ClinVar Annotator: match by term: Distal myopathy | 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 | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
distal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 OMIM
ClinVar		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1052196 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
distal myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Myopathy, distal, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12847162 PMID:34722876 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
distal myopathy 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: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr11:78,976,861...79,123,343
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15824355 PMID:15929027 PMID:16199547 More... NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Frmd1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr 1:63,750,852...63,762,383 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 ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26506222 PMID:27868399 PMID:28268051 More... NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
Distal Myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 More... NCBI chr17:62,835,055...62,902,331
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
Distal Myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked OMIM
ClinVar		 PMID:28492532 PMID:33974137 NCBI chr  X:41,049,354...41,107,323
Ensembl chr  X:37,234,294...37,276,708 		JBrowse link
distal myopathy Tateyama type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:12666119 PMID:15580566 More... NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		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 More... NCBI chr 4:147,058,767...147,077,640
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
distal myopathy with anterior tibial onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2764718 PMID:2766772 PMID:9536098 PMID:9731526 PMID:11053681 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
distal myopathy with rimmed vacuoles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES ClinVar PMID:9536098 PMID:11528398 PMID:12473753 PMID:12473780 PMID:12497639 More... NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles OMIM
ClinVar		 PMID:12374763 PMID:15176995 PMID:16199547 PMID:17129171 PMID:17181397 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 6:75,919,350...76,359,667
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:decreased expression:skeletal muscle
protein:increased degradation:skeletal muscle		 RGD PMID:7630355 PMID:11445638 PMID:15833425 RGD:11552581, RGD:11537476, RGD:11073211 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:58,458,683...58,462,949
Ensembl chr  X:54,488,781...54,491,141 		JBrowse link
G Dmd dystrophin treatment ISO
ISS
IMP		 ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
OMIM:310200
CTD Direct Evidence: marker/mechanism
mRNA:decreased stability:muscle		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:1580859, RGD:12879862, RGD:11040981, RGD:12880014, RGD:12880007, RGD:737706, RGD:12880034 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:53,547,274...53,548,251
Ensembl chr  X:49,595,718...49,596,266 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,106,708...54,189,940
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,866,557...54,872,631 JBrowse link
G Mageb10 MAGE family member B10 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr 1:212,239,403...212,240,410
Ensembl chr 1:202,810,179...202,811,167 		JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,778,318...54,784,040
Ensembl chr  X:50,827,563...50,833,151 		JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,816,254...54,817,249
Ensembl chr  X:50,865,484...50,866,479 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,707,658...54,711,786
Ensembl chr  X:50,756,886...50,761,011 		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 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:182,415,546...182,441,280 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,354,755...54,373,930
Ensembl chr  X:50,361,248...50,423,269 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Utrn utrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar
RGD		 PMID:25741868 PMID:9288751 RGD:737706 NCBI chr 1:8,541,061...9,044,487
Ensembl chr 1:6,722,594...7,224,313 		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:1707005 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:15689448 PMID:18378883 PMID:18414213 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,495,396...112,508,186
Ensembl chr 7:110,614,951...110,627,675 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy		 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,704,798...112,731,691
Ensembl chr 7:110,824,375...110,850,702 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,958,348...111,964,948
Ensembl chr 7:110,077,878...110,084,412 		JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,585,341...112,592,938
Ensembl chr 7:110,704,894...110,712,487 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,210,944...112,252,044
Ensembl chr 7:110,330,408...110,359,224 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,097,220...113,103,831 JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,275,759...112,283,665
Ensembl chr 7:110,395,332...110,403,200 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,808,669...111,825,522
Ensembl chr 7:109,928,173...109,947,072 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,756,950...111,782,089
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,032,711...112,057,204
Ensembl chr 7:110,152,272...110,176,741 		JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,971,522...112,989,747
Ensembl chr 7:111,089,445...111,109,193 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,005,278...113,047,854
Ensembl chr 7:111,124,888...111,167,952 		JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr12:20,567,482...20,606,600
Ensembl chr12:15,453,636...15,492,739 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,522,222...112,544,063
Ensembl chr 7:110,627,107...110,663,614 		JBrowse link
G Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,101,998...112,153,280
Ensembl chr 7:110,225,919...110,272,433 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1178008 PMID:1998333 PMID:7294729 PMID:7894480 PMID:8589715 More... RGD:1598907 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,054,751...113,096,898
Ensembl chr 7:111,174,362...111,216,483 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:25741868 PMID:25741874 PMID:39481677 NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,483,183...112,496,359
Ensembl chr 7:110,605,226...110,607,685 		JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,475,572...112,481,920
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,316,530...112,332,249
Ensembl chr 7:110,435,062...110,451,789 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy		 ClinVar PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr 7:113,128,645...113,153,094
Ensembl chr 7:111,248,254...111,272,705 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:110,592,208...110,594,694 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,110,709...113,124,632
Ensembl chr 7:111,230,318...111,244,652 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,927,494...112,954,547
Ensembl chr 7:111,047,094...111,074,151 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,859,556...111,891,869
Ensembl chr 7:109,979,060...110,008,927 		JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,959,632...112,969,858
Ensembl chr 7:111,079,218...111,101,600 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,283,630...112,290,228
Ensembl chr 7:110,403,173...110,404,802 		JBrowse link
G Lmna lamin A/C ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy		 CTD
ClinVar
MouseDO
RGD		 PMID:262236 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2280636 More... RGD:1580516 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25795793 PMID:28492532 More... NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,792,787...112,804,139
Ensembl chr 7:110,912,499...110,923,851 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,191,288...112,209,129
Ensembl chr 7:110,310,812...110,328,653 		JBrowse link
G Micall1 MICAL-like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,557,192...112,587,618
Ensembl chr 7:110,676,775...110,707,177 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,836,079...111,843,651
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,416...144,482 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,373,749...112,379,362
Ensembl chr 7:110,493,246...110,498,907 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,352,971...112,358,419
Ensembl chr 7:110,472,515...110,477,963 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,676,890...112,697,275
Ensembl chr 7:110,797,117...110,816,848 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:28492532 NCBI chr12:20,606,066...20,738,766
Ensembl chr12:15,511,801...15,624,942 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:109,772,593...109,784,561 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,338,087...112,350,659
Ensembl chr 7:110,457,710...110,470,201 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:110,818,274...110,822,069 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy		 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,973,049...111,980,250
Ensembl chr 7:110,092,575...110,099,769 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
protein:altered localization:liver, Golgi (mouse)		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:10044242, RGD:10044242 NCBI chr12:20,510,230...20,555,123
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18570303 More... NCBI chr 7:113,155,766...113,172,950
Ensembl chr 7:111,275,380...111,292,553 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO
ISS		 DNA:deletion:cds:
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:19008300 RGD:13209003 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		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:26467025 PMID:28492532 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,805,512...112,848,398
Ensembl chr 7:110,925,092...110,967,943 		JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:113,103,863...113,109,056
Ensembl chr 7:111,216,571...111,246,799 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:110,506,248...110,562,474 		JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,828,557...111,836,980
Ensembl chr 7:109,948,062...109,957,216 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:134,627,229...134,660,110 		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 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,182,275...110,200,088
Ensembl chr 7:108,301,415...108,319,436 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,052,716...110,076,529
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,574,271...109,576,074
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,200,078...110,210,644
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,947,750...109,950,142
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,697,607...109,718,468
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,928,491...109,931,233
Ensembl chr 7:108,047,831...108,050,573 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,140,243...110,143,176
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,492,808...109,497,719
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,205,812...109,211,650
Ensembl chr 7:107,325,607...107,330,907 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,578,386...108,601,738
Ensembl chr 7:106,689,410...106,712,724 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,932,556...109,936,139
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,166,334...109,169,448
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,842,870...109,846,048
Ensembl chr 7:107,962,207...107,965,366 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,423,209...109,427,771
Ensembl chr 7:107,542,083...107,547,055 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,972,079...109,975,398
Ensembl chr 7:108,091,951...108,094,737 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,261,257...110,269,007
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,532,207...108,533,943
Ensembl chr 7:106,643,232...106,644,733 		JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,815,970...108,820,444
Ensembl chr 7:106,935,761...106,939,689 		JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:109,139,527...109,142,108
Ensembl chr 7:107,258,779...107,261,454 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,521,783...108,527,012
Ensembl chr 7:106,632,797...106,638,023 		JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,506,545...108,508,582
Ensembl chr 7:106,617,561...106,619,598 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,955,876...109,958,909
Ensembl chr 7:108,075,189...108,078,249 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,575,619...109,595,339
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:108,421,350...108,423,461 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,979,344...110,052,800
Ensembl chr 7:108,102,734...108,172,146 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,448,738...109,456,034
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,457,328...109,460,817
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,679,330...109,685,656
Ensembl chr 7:107,799,497...107,805,230 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,892,136...109,932,403
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,829,721...109,839,054
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec plectin ISO
ISS		 ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:226670		 OMIM
ClinVar
CTD
MouseDO		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,272,307...110,295,452
Ensembl chr 7:108,391,656...108,419,509 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,484,263...109,489,554
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,272,676...109,283,444
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,640,034...109,663,354
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,121,640...110,125,290
Ensembl chr 7:108,240,986...108,244,636 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,056,897...110,059,283
Ensembl chr 7:108,176,608...108,178,626 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,951,336...109,955,552
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,214,017...110,218,202
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,500,933...108,502,349
Ensembl chr 7:106,611,949...106,613,365 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,863,794...109,888,145
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,477,438...109,479,957
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,137,814...110,140,081
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,223,269...109,248,855
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,222,638...110,226,486
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,321,423...109,406,241
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,188,010...109,198,546
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,508,046...109,516,965
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:109,560,298...109,567,256
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:110,244,634...110,258,071
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Dcn decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22796148 NCBI chr16:1,565,290...1,575,317
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:12,819,053...12,822,724
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lum lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:52,805,521...52,809,316
Ensembl chr16:46,072,939...46,076,733 		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 chr16:57,629,221...57,650,188
Ensembl chr16:50,925,803...50,946,661 		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:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,320,479...118,334,810 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:672092 PMID:8723126 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
facioscapulohumeral muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrif1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic OMIM
ClinVar		 PMID:32467133 NCBI chr 2:196,919,606...197,010,713
Ensembl chr 2:194,230,951...194,322,483 		JBrowse link
facioscapulohumeral muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic OMIM
ClinVar		 PMID:25741868 PMID:27153398 PMID:28492532 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124 		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 chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO
ISS		 ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related
OMIM:253800		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... RGD:11537476 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr10:52,384,810...52,408,698
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
glycogen storage disease VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232800 MouseDO NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO
ISS		 OMIM:232800
ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: PFKM DEFICIENCY
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:1833270 PMID:2140573 PMID:7479776 PMID:7513946 PMID:7603526 More... RGD:1599108 NCBI chr 7:131,100,684...131,138,250
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
GNE myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:15266205 PMID:17786384 PMID:22022569 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing		 CTD
ClinVar
OMIM		 PMID:2402797 PMID:2473753 PMID:2808337 PMID:5182749 PMID:9536098 More... NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,419,627...1,464,590
Ensembl chr16:1,410,756...1,457,797 		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 ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		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 ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2		 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		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 ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		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 chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		 CTD
ClinVar		 PMID:23455423 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23455423 RGD:10395280 NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia		 CTD
ClinVar
MouseDO		 PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		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:26467025 PMID:28492532 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11371436 PMID:15221789 PMID:15689361 PMID:16141003 PMID:18854869 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy		 CTD
ClinVar		 PMID:09536092 PMID:11251997 PMID:11884389 PMID:12847114 PMID:14672715 More... NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23687351 PMID:30055862 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699 		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 chr 4:6,010,081...6,232,052
Ensembl chr 4:5,452,683...5,556,659 		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 | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle		 ClinVar
RGD		 PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... RGD:11667959 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:36745799 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814726 PMID:12032588 PMID:30055862 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		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 chr18:36,956,119...36,975,728
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Popdc1 popeye domain cAMP effector 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:31119192 NCBI chr20:50,401,611...50,442,653
Ensembl chr20:48,822,308...48,857,472 		JBrowse link
G Sgcd sarcoglycan, delta severity ISO RGD PMID:10481911 RGD:13605616 NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Sgcg sarcoglycan, gamma ISS MouseDO NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:23830518 PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 More... NCBI chr16:51,465,631...51,512,003
Ensembl chr16:44,733,169...44,779,322 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,272,808...122,274,594
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Chkb choline kinase beta ISO
ISS		 ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:602541		 OMIM
ClinVar
CTD
MouseDO		 PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,323,860...122,326,921
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,331,708...122,335,364
Ensembl chr 7:120,453,932...120,455,737 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,297,971...122,302,423
Ensembl chr 7:120,418,345...120,422,823 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,284,660...122,287,158
Ensembl chr 7:120,405,031...120,407,537 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:8198124 PMID:10721675 PMID:12384772 PMID:17142620 PMID:25741868 More... NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,237,968...122,264,591
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,336,427...122,362,608
Ensembl chr 7:120,456,800...120,482,973 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)		 CTD
ClinVar
OMIM		 PMID:19125351 PMID:19667227 PMID:22176657 PMID:23307888 PMID:24741716 More... NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive		 CTD
ClinVar		 PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		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 ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar		 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		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 ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3
CTD Direct Evidence: marker/mechanism
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9673985 PMID:17008331 PMID:17132147 PMID:18414213 PMID:20096397 More... RGD:11570558 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580 		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:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		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 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:20008564 RGD:10040985 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22795790 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr17:55,958,750...55,982,762
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21549339 PMID:23449775 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625 		JBrowse link
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 28 ClinVar
OMIM		 PMID:25741868 PMID:36745799 PMID:37167966 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:23453667 PMID:25741868 PMID:28492532 PMID:29791932 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
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 chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:10838249 PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:17559086 PMID:17878207 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy		 ClinVar
RGD		 PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 More... RGD:11530903 NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
muscular dystrophy-dystroglycanopathy type B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Fkrp fukutin related protein ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
OMIM:613155		 OMIM
ClinVar
MouseDO		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
muscular dystrophy-dystroglycanopathy type B14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM
ClinVar		 PMID:16199547 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 More... NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		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 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 OMIM
ClinVar		 PMID:31469168 NCBI chr 2:176,974,290...176,974,805
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		JBrowse link
muscular dystrophy-dystroglycanopathy type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17576681 More... NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
muscular dystrophy-dystroglycanopathy type B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar		 PMID:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
muscular dystrophy-dystroglycanopathy type B4 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, FKTN-RELATED OMIM
ClinVar		 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		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
ISS		 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5
OMIM:606612
DNA:missense mutations: :p.A455D, p.V405L (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:19,736,282...19,793,737
Ensembl chr 7:17,861,007...17,905,919 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:81,956,777...82,087,392
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:19,696,951...19,725,180
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
OMIM:608840		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... RGD:1358756 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:19,795,393...19,814,875
Ensembl chr 7:17,907,705...17,927,132 		JBrowse link
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:81,778,495...81,843,084
Ensembl chr14:77,553,843...77,618,547 		JBrowse link
G Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr20:12,475,096...12,518,186
Ensembl chr20:12,475,644...12,518,738 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:19,244,032...19,701,571
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:81,920,819...81,930,202
Ensembl chr14:77,696,333...77,705,741 		JBrowse link
muscular dystrophy-dystroglycanopathy type C12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 OMIM
ClinVar		 PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 More... NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 ClinVar PMID:1236901 PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
muscular dystrophy-dystroglycanopathy type C8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 OMIM
ClinVar		 PMID:25741868 PMID:27066570 PMID:28492532 PMID:32570172 PMID:35131284 NCBI chr 8:130,522,607...130,538,273
Ensembl chr 8:121,644,970...121,660,757 		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: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,136,862...84,143,830
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,126,071...84,136,723
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,395,095...83,402,743
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,864,922...83,866,390
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,907,882...83,942,812
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,533,369...83,558,207
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,082,148...84,088,888
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,895,921...83,906,651
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,422,755...83,428,411
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,712,402...83,743,222
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO
ISS		 protein:altered expression:cardiomyocyte:
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
OMIM:601419
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,248,581...84,257,484
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,887,844...83,891,718
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,141,993...84,154,176
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,425,709...83,425,793
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,906,582...83,906,656
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,564,616...83,613,742
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,317,757...83,386,263
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,744,385...83,753,629
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,213,844...84,220,186
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,088,935...84,095,072
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,619,148...83,626,020
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,071,286...84,081,951
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,154,285...84,157,521
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,625,905...83,652,785
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,320,972...83,338,469
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,670,788...83,706,891
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,467,966...83,567,848
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,440,248...83,467,963
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,778,552...83,792,186
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:84,114,170...84,117,115
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:83,591,318...83,613,896
Ensembl chr 9:76,142,227...76,164,856 		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 ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr18:26,281,719...26,316,583
Ensembl chr18:26,007,797...26,042,428 		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 ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure		 ClinVar
CTD
OMIM		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
Myopathy with Abnormal Lipid Metabolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Lipid storage myopathy ClinVar PMID:28492532 NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: FLAD1-related condition | ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 NCBI chr 2:177,117,183...177,126,650
Ensembl chr 2:174,819,453...174,828,977 		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
ISS		 ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... RGD:704389 NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Batten-Turner congenital myopathy		 CTD
ClinVar		 PMID:1316765 PMID:25741868 NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,246,936...91,296,545 		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 chr 4:121,860,102...121,868,976
Ensembl chr 4:120,302,771...120,311,637 		JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 PMID:27030674 NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISS MouseDO NCBI chr 2:146,789,570...146,964,136
Ensembl chr 2:144,670,285...144,814,368 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084293 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita		 CTD
ClinVar		 PMID:1338909 PMID:7980103 PMID:9618291 PMID:9660885 PMID:10682917 More... NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Stau1 staufen double-stranded RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27030674 NCBI chr 3:176,099,053...176,144,947
Ensembl chr 3:155,680,000...155,725,909 		JBrowse link
myotonic dystrophy type 1 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 ClinVar Annotator: match by term: Myotonic Myopathy, Proximal ClinVar PMID:25741868 NCBI chr 4:121,860,102...121,868,976
Ensembl chr 4:120,302,771...120,311,637 		JBrowse link
G Dmpk DM1 protein kinase ISO
ISS		 DNA:trinucleotide expansion:3'UTR
OMIM:160900
ClinVar Annotator: match by term: DMPK-related condition | ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome		 MouseDO
ClinVar
OMIM
RGD		 PMID:18414213 PMID:25637381 PMID:25741868 PMID:8595416 RGD:1600900 NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Ldb3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO protein:increased expression:heart (human) RGD PMID:32109384 RGD:329848958 NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:108,810,628...109,054,691 		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 ClinVar Annotator: match by term: Myotonic dystrophy type 2 OMIM
ClinVar		 PMID:25741868 NCBI chr 4:121,860,102...121,868,976
Ensembl chr 4:120,302,771...120,311,637 		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: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:63,343,186...63,350,589 		JBrowse link
oculopharyngeal muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31332380 NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy | ClinVar Annotator: match by term: PABPN1-related condition		 CTD
ClinVar
OMIM		 PMID:12823221 PMID:16239242 PMID:16648376 PMID:25728001 PMID:25741868 NCBI chr15:32,337,955...32,342,700
Ensembl chr15:28,368,100...28,372,703 		JBrowse link
Oculopharyngeal Muscular Dystrophy 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 ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35484142 NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
oculopharyngodistal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO OMIM NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
oculopharyngodistal myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc1 GIPC PDZ domain containing family, member 1 ISO OMIM NCBI chr19:41,380,125...41,392,078
Ensembl chr19:24,453,123...24,486,997 		JBrowse link
oculopharyngodistal myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rilpl1 Rab interacting lysosomal protein-like 1 ISO ClinVar Annotator: match by term: Oculopharyngodistal myopathy 4 OMIM
ClinVar		 PMID:25741868 NCBI chr12:37,732,847...37,770,659
Ensembl chr12:32,071,693...32,109,938 		JBrowse link
G Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 ISO ClinVar Annotator: match by term: Oculopharyngodistal myopathy 4 ClinVar PMID:25741868 NCBI chr12:37,773,052...37,781,635
Ensembl chr12:32,110,993...32,122,660 		JBrowse link
paramyotonia congenita of Von Eulenburg term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Paramyotonia Congenita | ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1668369 More... NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Potassium Aggravated Myotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Potassium-aggravated myotonia ClinVar PMID:25741868 NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon : p.L1436P		 OMIM
ClinVar
CTD
RGD		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... RGD:13208523 NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:25182138 PMID:27854218 NCBI chr19:68,781,168...68,784,194
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr 2:53,379,457...53,399,807
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:152,239,296...152,262,290
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:152,057,839...152,197,737
Ensembl chr 5:146,775,842...146,913,421 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenon selenoprotein N ISO
ISS		 DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SELENON-related condition | ClinVar Annotator: match by term: SEPN1-related disorder
CTD Direct Evidence: marker/mechanism
OMIM:602771		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... RGD:1599352 NCBI chr 5:152,032,330...152,046,707
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
rippling muscle disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO
ISS		 ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive
OMIM:606072
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 More... NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive ClinVar PMID:1146501 PMID:2705900 PMID:09536092 PMID:09537420 PMID:10227634 More... NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Rippling muscle disease 2 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:147,058,767...147,077,640
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32528171 NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
Scapulohumeroperoneal Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal OMIM
ClinVar		 PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr19:68,781,168...68,784,194
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
scapuloperoneal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISS OMIM:181430 | OMIM:300695 MouseDO NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:32,421,615...32,421,726
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar PMID:25741868 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: SCAPULOPERONEAL MUSCULAR DYSTROPHY | ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type ClinVar PMID:1975 PMID:177788 PMID:564455 PMID:737223 PMID:901918 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr16:57,669,927...57,701,349
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
Thomsen disease 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: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease OMIM
ClinVar		 PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Fam131b family with sequence similarity 131, member B ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form ClinVar PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 More... NCBI chr 4:72,167,667...72,176,924
Ensembl chr 4:71,201,038...71,210,228 		JBrowse link
tibial muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO
ISS		 ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: Tibial muscular dystrophy, tardive | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy
OMIM:600334
ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy		 OMIM
ClinVar
MouseDO		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Ullrich congenital muscular dystrophy 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
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COL6A1-related Disorder
OMIM:254090		 CTD
ClinVar
MouseDO		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254090 MouseDO NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Ullrich congenital muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:7695699 PMID:8218237 PMID:15689448 PMID:16199547 PMID:18366090 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Ullrich congenital muscular dystrophy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Ullrich congenital muscular dystrophy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Ullrich congenital muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: COL12A1-related disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar		 PMID:7642694 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 More... NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cox7a2 cytochrome c oxidase subunit 7A2 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,597,051...89,611,032
Ensembl chr14:51,301,168...51,301,633
Ensembl chr 8:51,301,168...51,301,633 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,641,509...89,836,772
Ensembl chr 8:80,764,604...80,922,549 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Senp6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,868,115...89,951,803
Ensembl chr 8:80,989,052...81,067,170 		JBrowse link
G Tmem30a transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,608,975...89,637,421
Ensembl chr 8:80,729,619...80,753,248 		JBrowse link
Vacuolar Neuromyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES ClinVar PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:16199547 More... NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Plin4 perilipin 4 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:1,016,334...1,025,249
Ensembl chr 9:929,176...938,056 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,718,761...86,725,869
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:118,867,450...119,004,859
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,674,989...86,686,722
Ensembl chr 1:77,546,900...77,558,630 		JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Chemke syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Fkrp fukutin related protein ISO DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1464708 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 More... RGD:11667969 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
DNA:insertion:exon:c.1167insA (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... RGD:1598929, RGD:11576320, RGD:11537406, RGD:11062579 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 5:73,052,565...73,130,292
Ensembl chr 5:68,258,932...68,334,928 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,692,609...86,696,463
Ensembl chr 1:77,564,515...77,568,371 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
DNA:missense mutations, nonsense mutation: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)		 CTD
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11532772, RGD:11065512, RGD:1554293, RGD:11071487 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr 8:130,522,607...130,538,273
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple		 ClinVar
CTD
RGD		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,640,095...86,670,476
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,707,690...86,710,073
Ensembl chr 1:77,579,596...77,581,979 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 CTD
ClinVar		 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:72,857,323...73,037,279
Ensembl chr 5:68,063,618...68,241,909 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,614,193...86,639,959
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:73,206,372...73,212,929
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:73,255,662...73,291,383
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
Welander Distal Myopathy, Swedish Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Welander distal myopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10482271 PMID:16199547 PMID:17576681 PMID:23348830 More... NCBI chr 4:120,410,180...120,440,676
Ensembl chr 4:118,852,837...118,880,586 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 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 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,510,230...20,555,123
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:28492532 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:139,771,962...139,901,771
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:139,944,080...139,969,637
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy OMIM
ClinVar		 PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:139,656,587...139,723,239
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:140,016,938...140,036,348 JBrowse link
X-Linked Scapuloperoneal Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy		 OMIM
CTD
ClinVar		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21629301 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        muscular disease 2233
          muscle tissue disease 1358
            myopathy 1049
              muscular dystrophy 654
                Adult-Onset Muscular Dystrophy with Leukoencephalopathy 1
                Alpha-B Crystallinopathy with Cataract 0
                Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                Bassoe Syndrome 0
                Becker muscular dystrophy 3
                Duchenne muscular dystrophy + 33
                Emery-Dreifuss muscular dystrophy + 134
                MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                Muscular Dystrophy, Animal + 4
                Muscular Dystrophy, Barnes Type 0
                Muscular Dystrophy, Cardiac Type 0
                Muscular Dystrophy, Mabry Type 0
                Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 0
                Myofibrillar Myopathy, ZASP-Related 1
                Myopathy with Abnormal Lipid Metabolism 2
                Oculopharyngeal Muscular Dystrophy 2 1
                Progressive Muscular Dystrophy, Pectorodorsal 0
                Scapulohumeroperoneal Myopathy 1
                Vacuolar Neuromyopathy 2
                autosomal recessive distal hereditary motor neuronopathy 7 1
                congenital muscular dystrophy + 210
                distal myopathy + 35
                facioscapulohumeral muscular dystrophy + 23
                glycogen storage disease VII 2
                limb-girdle muscular dystrophy + 235
                myotonic disease + 25
                oculopharyngeal muscular dystrophy + 4
                oculopharyngodistal myopathy + 4
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  myopathy 1049
                    muscular dystrophy 654
                      Adult-Onset Muscular Dystrophy with Leukoencephalopathy 1
                      Alpha-B Crystallinopathy with Cataract 0
                      Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                      Bassoe Syndrome 0
                      Becker muscular dystrophy 3
                      Duchenne muscular dystrophy + 33
                      Emery-Dreifuss muscular dystrophy + 134
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
                      Muscular Dystrophy, Animal + 4
                      Muscular Dystrophy, Barnes Type 0
                      Muscular Dystrophy, Cardiac Type 0
                      Muscular Dystrophy, Mabry Type 0
                      Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 0
                      Myofibrillar Myopathy, ZASP-Related 1
                      Myopathy with Abnormal Lipid Metabolism 2
                      Oculopharyngeal Muscular Dystrophy 2 1
                      Progressive Muscular Dystrophy, Pectorodorsal 0
                      Scapulohumeroperoneal Myopathy 1
                      Vacuolar Neuromyopathy 2
                      autosomal recessive distal hereditary motor neuronopathy 7 1
                      congenital muscular dystrophy + 210
                      distal myopathy + 35
                      facioscapulohumeral muscular dystrophy + 23
                      glycogen storage disease VII 2
                      limb-girdle muscular dystrophy + 235
                      myotonic disease + 25
                      oculopharyngeal muscular dystrophy + 4
                      oculopharyngodistal myopathy + 4
paths to the root