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limb-girdle muscular dystrophy - Ontology Report - Rat Genome Database

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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:limb-girdle muscular dystrophy
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Accession:DOID:11724 term browser browse the term
Definition:A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)
Synonyms:exact_synonym: Erb's muscular dystrophy;   Leyden-Mbius muscular dystrophy;   Limb-Girdle Syndrome;   limb-girdle muscular dystrophies;   myopathic limb-girdle syndrome
 narrow_synonym: limb-girdle muscular dystrophy, dominant;   limb-girdle muscular dystrophy, recessive
 xref: GARD:6907;   ICD10CM:G71.03;   MESH:D049288;   MIM:PS609308;   MONDO:0016971;   NCI:C84828;   ORDO:263
For additional species annotation, visit the Alliance of Genome Resources.

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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 5:78,758,142...79,744,021
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 chr16:44,733,169...44,779,324
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 5:129,646,139...129,659,383
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
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 DNA:missense mutations, nonsense mutation:cds:multiple (human)
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: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:12791020, RGD:2306094, 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 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 4:57,997,825...58,027,598
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 4:58,082,856...58,118,170
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 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457 		JBrowse link
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr14:9,557,430...9,563,659
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 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 5:78,758,142...79,744,021
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: 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: Autosomal recessive limb-girdle muscular dystrophy | 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 chr10:79,904,698...79,922,808
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 chr16:44,733,169...44,779,324
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 5:129,646,139...129,659,383
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: Autosomal recessive limb-girdle muscular dystrophy | 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 chr16:44,733,169...44,779,324
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 8:57,347,412...57,388,345
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
OMIM:253600
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
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 8:33,551,010...33,560,227
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 3:107,353,369...107,406,104
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		 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
OMIM:253601
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
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 chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:39,564,920...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		 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
OMIM:604286
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605613, RGD:13605614 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		 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
OMIM:601287
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
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 5:78,758,142...79,744,021
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
OMIM:254110
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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:deletion, missense mutations, nonsense mutation: :multiple
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:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:missense mutation: :pP89A (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)		 ClinVar
MouseDO
OMIM
RGD		 PMID:10838249 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 More... RGD:1598944, RGD:11063285, RGD:11667967, RGD:11667966, RGD:11667965, RGD:11667964, RGD:11667963, RGD:11667961 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 3:15,229,476...15,254,033
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 3:15,355,958...15,376,330
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 3:15,092,682...15,126,371
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 3:15,384,461...15,398,820
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 3:15,433,357...15,519,105
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 3:15,088,045...15,088,419
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:duplications, nonsense mutation, missense mutation:exon:multiple
DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... RGD:11570561, RGD:11570558, 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 5:129,618,926...129,628,651
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 5:129,646,139...129,659,383
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 8:108,981,620...108,988,127
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 8:109,080,032...109,084,588
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 8:109,131,138...109,140,784
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 8:109,264,100...109,268,560
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 8:109,091,134...109,126,386
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 8:109,261,362...109,263,194
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 8:108,976,393...108,981,620
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 8:109,216,900...109,256,472
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 8:109,268,079...109,274,504
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 chr16:44,733,169...44,779,324
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 8:108,737,429...108,740,437
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 chr18:23,553,937...23,592,137
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 chr18:23,588,307...23,669,841
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
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 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, 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
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
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
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 7:108,301,623...108,319,439
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 7:107,693,572...107,695,375
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 7:107,581,930...107,596,735
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 7:107,816,919...107,842,946
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 7:108,047,831...108,050,573
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 7:108,259,097...108,262,528
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 7:107,325,584...107,330,911
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 7:106,683,749...106,712,802
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 7:106,643,225...106,644,733
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 7:107,258,779...107,261,270
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 7:106,632,800...106,638,003
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 7:106,617,561...106,619,598
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 7:108,098,708...108,172,146
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 7:107,566,212...107,576,469
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 7:108,011,472...108,051,751
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
OMIM:226670
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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 7:107,782,799...107,793,759
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 7:107,603,543...107,608,831
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 PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,391,948...107,402,713
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 7:108,240,986...108,244,636
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 7:107,980,857...108,007,716
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 PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,256,535...108,259,429
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 7:107,338,092...107,368,125
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 7:107,440,694...107,525,451
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 7:107,307,303...107,320,164
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 7:107,627,334...107,636,254
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 7:107,679,597...107,686,556
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 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		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
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 OMIM
ClinVar		 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 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 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		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 8:121,645,106...121,660,761
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 9:76,164,925...76,168,940
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 9:76,447,250...76,457,968
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		 ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
OMIM:601419
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:		 OMIM
ClinVar
MouseDO
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 9:76,693,325...76,705,548
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 9:76,765,179...76,771,824
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 9:76,176,922...76,204,423
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 9:75,871,835...75,889,366
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 9:76,329,882...76,343,523
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 9:76,141,053...76,164,784
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 chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        muscular disease 2233
          muscle tissue disease 1357
            myopathy 1049
              muscular dystrophy 654
                limb-girdle muscular dystrophy 235
                  Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
                  Dysferlinopathy 1
                  Muscular Dystrophy, Hemizygous Lethal Type 0
                  autosomal dominant limb-girdle muscular dystrophy + 19
                  autosomal recessive limb-girdle muscular dystrophy + 146
                  congenital muscular dystrophy with cataracts and intellectual disability 1
                  diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
                  epidermolysis bullosa simplex with muscular dystrophy 64
                  inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      limb-girdle muscular dystrophy 235
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
                        Dysferlinopathy 1
                        Muscular Dystrophy, Hemizygous Lethal Type 0
                        autosomal dominant limb-girdle muscular dystrophy + 19
                        autosomal recessive limb-girdle muscular dystrophy + 146
                        congenital muscular dystrophy with cataracts and intellectual disability 1
                        diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
                        epidermolysis bullosa simplex with muscular dystrophy 64
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
paths to the root