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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:autosomal recessive limb-girdle muscular dystrophy
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Accession:DOID:0110274 term browser browse the term
Definition:A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: recessive limb-girdle muscular dystrophy
 primary_id: MESH:C538640
 xref: OMIM:PS253600;   ORDO:102015
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:23606453 PMID:24022920 More... NCBI chr 1:101,086,490...101,187,547
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, Recessive ClinVar 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, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 1:77,479,641...77,486,954
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 PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:17559086 PMID:22323514 PMID:23757202 PMID:24033266 PMID:25741868 More... NCBI chr 3:15,520,717...15,538,579
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: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 ClinVar
RGD		 PMID:18414213 PMID:25741868 PMID:27457812 PMID:27854218 PMID:28492532 More... RGD:11532762 NCBI chr 6:106,755,462...106,794,849
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 chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 More... NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 PMID:9631401 More... NCBI chr14:34,563,614...34,578,614
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 PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 More... NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:16199547 PMID:18285821 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 5:79,005,139...79,016,615
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, autosomal recessive
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 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: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:22335739 PMID:22526018 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23		 ClinVar
OMIM		 PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:12100448 More... NCBI chr 1:17,672,675...18,320,641
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 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 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		 ClinVar
OMIM		 PMID:25741868 PMID:27066570 PMID:28492532 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Popdc3 popeye domain containing 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar		 PMID:31610034 NCBI chr20:48,772,382...48,800,364
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: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar		 PMID:33861953 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy
ClinVar Annotator: match by term: Calpainopathy
ClinVar Annotator: match by OMIM:253600		 ClinVar
OMIM
RGD		 PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... RGD:734687 NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
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 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253601		 OMIM
ClinVar
CTD		 PMID:1483054 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 7:128,987,981...129,037,677
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 Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type		 ClinVar PMID:18285821 PMID:18398442 PMID:18414213 PMID:19031088 PMID:19208398 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)
ClinVar Annotator: match by OMIM:253700		 OMIM
ClinVar
RGD		 PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9536098 More... RGD:13605619 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 8:108,890,926...108,955,611
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 chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgca sarcoglycan, alpha treatment ISO ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by OMIM:608099		 OMIM
ClinVar
RGD		 PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr10:79,904,698...79,922,813
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 chr15:35,388,836...35,435,072
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:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:29671837 More... NCBI chr 7:130,113,214...130,116,880
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 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: Limb-girdle muscular dystrophy, type 2E
ClinVar Annotator: match by OMIM:604286
ClinVar Annotator: match by null		 OMIM
ClinVar
RGD		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605613, RGD:13605614 NCBI chr14:34,563,614...34,578,614
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 ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
ClinVar Annotator: match by term: Delta-sarcoglycanopathy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601287		 OMIM
ClinVar
CTD		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr10:31,346,480...32,328,364
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G
ClinVar Annotator: match by OMIM:601954		 OMIM
ClinVar		 PMID:10655062 PMID:15582318 PMID:16911908 PMID:18414213 PMID:18585512 More... NCBI chr10:83,381,719...83,382,887
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: Sarcotubular myopathy 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 ClinVar Annotator: match by term: Sarcotubular myopathy
ClinVar Annotator: match by OMIM:254110		 OMIM
ClinVar		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:79,005,139...79,016,615
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 DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:missense mutation: :pP89A (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)
ClinVar Annotator: match by OMIM:607155		 ClinVar
OMIM
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1598944, RGD:11063285, RGD:11667967, RGD:11667966, RGD:11667965, RGD:11667964, RGD:11667963, RGD:11667961 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 1:77,482,267...77,511,862
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 Ttn titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr 3:61,652,432...61,924,912
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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Aif1l allograft inflammatory factor 1-like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,229,476...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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:14,962,930...14,973,645
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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,092,681...15,126,399
Ensembl chr 3:15,092,681...15,126,399 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,384,461...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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
ClinVar Annotator: match by OMIM:609308		 OMIM
ClinVar		 PMID:9536098 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 3:15,433,357...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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
ClinVar Annotator: match by OMIM:611307
DNA:duplications, nonsense mutation, missense mutation:exon:multiple
DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... RGD:11570561, RGD:11570558, RGD:11066746 NCBI chr 1:101,086,490...101,187,547
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 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
ClinVar Annotator: match by OMIM:611588		 OMIM
ClinVar		 PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:68,339,803...68,396,412
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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
ClinVar Annotator: match by OMIM:613158		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17878207 PMID:17923109 PMID:18414213 More... NCBI chr 6:106,755,462...106,794,849
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 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by OMIM:613157		 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
ClinVar Annotator: match by OMIM:613818		 OMIM
ClinVar		 PMID:9536098 PMID:14678799 PMID:15367484 PMID:17576681 PMID:20234391 More... NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
ClinVar Annotator: match by OMIM:613723		 OMIM
ClinVar		 PMID:11851880 PMID:15810881 PMID:21109228 PMID:22854623 PMID:24033266 More... NCBI chr 7:107,887,764...107,949,100
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: Limb-girdle muscular dystrophy, type 2S
ClinVar Annotator: match by OMIM:615356		 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: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
ClinVar Annotator: match by OMIM:615352		 OMIM
ClinVar		 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr 8:108,737,429...108,767,286
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C7
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7		 ClinVar
OMIM		 PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868 NCBI chr 6:53,120,264...53,397,030
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 Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr18:23,576,212...23,583,177
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2w		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25589244 PMID:25741868 PMID:28492532 NCBI chr18:23,553,813...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bves blood vessel epicardial substance ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X		 ClinVar
OMIM		 PMID:25741868 PMID:26642364 PMID:31119192 NCBI chr20:48,819,241...48,860,282
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 OMIM:617072
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y		 ClinVar
OMIM		 PMID:4856141 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24856141 More... NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862 		JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr13:68,225,226...68,256,536
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: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z ClinVar
OMIM		 PMID:27807076 NCBI chr11:62,198,600...62,226,446
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 ClinVar Annotator: match by OMIM:612937
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O		 ClinVar
OMIM		 PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 More... NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 		JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
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: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2R
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
protein:altered expression:cardiomyocyte:
ClinVar Annotator: match by OMIM:601419		 OMIM
ClinVar
CTD
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 9:76,850,979...76,858,695
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
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 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal recessive disease 3542
                autosomal recessive limb-girdle muscular dystrophy 106
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 2
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 1
                  Congenital Disorder of Glycosylation Type 1O 1
                  autosomal recessive limb-girdle muscular dystrophy type 2A 2
                  autosomal recessive limb-girdle muscular dystrophy type 2B 4
                  autosomal recessive limb-girdle muscular dystrophy type 2C 2
                  autosomal recessive limb-girdle muscular dystrophy type 2D 5
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
                  autosomal recessive limb-girdle muscular dystrophy type 2G 1
                  autosomal recessive limb-girdle muscular dystrophy type 2H 2
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
                  autosomal recessive limb-girdle muscular dystrophy type 2J 1
                  autosomal recessive limb-girdle muscular dystrophy type 2K 12
                  autosomal recessive limb-girdle muscular dystrophy type 2L 2
                  autosomal recessive limb-girdle muscular dystrophy type 2M 1
                  autosomal recessive limb-girdle muscular dystrophy type 2N 1
                  autosomal recessive limb-girdle muscular dystrophy type 2O 2
                  autosomal recessive limb-girdle muscular dystrophy type 2P 13
                  autosomal recessive limb-girdle muscular dystrophy type 2Q 1
                  autosomal recessive limb-girdle muscular dystrophy type 2S 1
                  autosomal recessive limb-girdle muscular dystrophy type 2T 1
                  autosomal recessive limb-girdle muscular dystrophy type 2U 1
                  autosomal recessive limb-girdle muscular dystrophy type 2W 2
                  autosomal recessive limb-girdle muscular dystrophy type 2X 1
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
                  autosomal recessive limb-girdle muscular dystrophy type 2Z 1
                  myofibrillar myopathy 1 43
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        peripheral nervous system disease 2579
          neuropathy 2372
            neuromuscular disease 1888
              muscular disease 1289
                muscle tissue disease 833
                  myopathy 668
                    muscular dystrophy 327
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 2
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 1
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 1
                          Congenital Disorder of Glycosylation Type 1O 1
                          autosomal recessive limb-girdle muscular dystrophy type 2A 2
                          autosomal recessive limb-girdle muscular dystrophy type 2B 4
                          autosomal recessive limb-girdle muscular dystrophy type 2C 2
                          autosomal recessive limb-girdle muscular dystrophy type 2D 5
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
                          autosomal recessive limb-girdle muscular dystrophy type 2G 1
                          autosomal recessive limb-girdle muscular dystrophy type 2H 2
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
                          autosomal recessive limb-girdle muscular dystrophy type 2J 1
                          autosomal recessive limb-girdle muscular dystrophy type 2K 12
                          autosomal recessive limb-girdle muscular dystrophy type 2L 2
                          autosomal recessive limb-girdle muscular dystrophy type 2M 1
                          autosomal recessive limb-girdle muscular dystrophy type 2N 1
                          autosomal recessive limb-girdle muscular dystrophy type 2O 2
                          autosomal recessive limb-girdle muscular dystrophy type 2P 13
                          autosomal recessive limb-girdle muscular dystrophy type 2Q 1
                          autosomal recessive limb-girdle muscular dystrophy type 2S 1
                          autosomal recessive limb-girdle muscular dystrophy type 2T 1
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
                          autosomal recessive limb-girdle muscular dystrophy type 2W 2
                          autosomal recessive limb-girdle muscular dystrophy type 2X 1
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 2
                          autosomal recessive limb-girdle muscular dystrophy type 2Z 1
                          myofibrillar myopathy 1 43
paths to the root