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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:muscle tissue disease
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Accession:DOID:66 term browser browse the term
Definition:A muscular disease located in the muscle tissue. (DO)
Synonyms:exact_synonym: muscle tissue disorder
 xref: MONDO:0003939
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
muscle tissue disease 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: Muscle tissue disorder ClinVar NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscle tissue disorder ClinVar NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Muscle tissue disorder ClinVar NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle tissue disorder ClinVar NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
3-methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253 		JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211 		JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912 		JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166 		JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,289,702...80,290,829 JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Fam131a family with sequence similarity 131, member A ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511 		JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677 		JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784 		JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515 		JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208 		JBrowse link
3-methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
3-methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:11170888 PMID:11181649 PMID:14680978 PMID:16010683 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
Abdominal Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb10 ATP binding cassette subfamily B member 10 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:51,952,655...51,982,910
Ensembl chr19:51,952,681...51,982,753 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 More... NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156 		JBrowse link
G C19h1orf198 similar to human chromosome 1 open reading frame 198 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,604,060...52,629,436
Ensembl chr19:52,604,060...52,629,436 		JBrowse link
G Capn9 calpain 9 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,549,448...52,586,413
Ensembl chr19:52,549,448...52,586,413 		JBrowse link
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,493,901...52,532,667
Ensembl chr19:52,493,932...52,526,874 		JBrowse link
G Disc1 DISC1 scaffold protein ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778 		JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777 		JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491 		JBrowse link
G Fam89a family with sequence similarity 89, member A ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,710,002...52,722,630
Ensembl chr19:52,710,019...52,722,631 		JBrowse link
G Fsaf1 40S small subunit processome assembly factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,807,932...52,822,259
Ensembl chr19:52,807,934...52,822,267 		JBrowse link
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,213,226...52,324,816
Ensembl chr19:52,213,351...52,324,813 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 NCBI chr 8:65,909,821...65,911,558 JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
G Pgbd5 piggyBac transposable element derived 5 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
G Taf5l1 TATA-box binding protein associated factor 5 like 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:51,991,704...52,011,001
Ensembl chr19:51,991,708...52,011,295 		JBrowse link
G Trim67 tripartite motif-containing 67 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,763,991...52,805,906
Ensembl chr19:52,764,387...52,800,422 		JBrowse link
G Tsnax translin-associated factor X ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,975,848...52,989,886
Ensembl chr19:52,975,659...52,989,878 		JBrowse link
G Ttc13 tetratricopeptide repeat domain 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,637,599...52,692,196
Ensembl chr19:52,637,431...52,692,198 		JBrowse link
G Urb2 URB2 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr19:52,011,019...52,036,607
Ensembl chr19:52,011,112...52,036,597 		JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097 		JBrowse link
Adult-Onset Muscular Dystrophy with Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Aggressive fibromatosis ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IEP RGD PMID:14506614 RGD:1581765 NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO
ISS		 ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy
OMIM:300523
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:		 ClinVar
CTD
OMIM
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma		 CTD
ClinVar
OMIM
RGD		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... RGD:1580944 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pax7 paired box 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968 		JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904 		JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human) 		RGD PMID:18671865 PMID:8666549 PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
ISS		 OMIM:606070
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
atrophic muscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Spinopontine atrophy ClinVar PMID:25741868 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Distal lower limb amyotrophy ClinVar PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 PMID:30122514 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal lower limb amyotrophy ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF ClinVar PMID:17008356 PMID:19590496 PMID:25741868 PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28053302 More... NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852 		JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592 		JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		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 2:173,939,751...173,960,423
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 6:94,537,088...94,848,085
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 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 More... NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant OMIM
ClinVar		 PMID:18230648 PMID:18313022 PMID:18414213 PMID:20435227 PMID:21214875 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS ClinVar PMID:25741868 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
DNA:missense mutation: :p.R1845W (23014C>T) (human)		 OMIM
ClinVar
RGD		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... RGD:12792959 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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 CTD Direct Evidence: marker/mechanism
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		 OMIM
CTD
ClinVar		 PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 More... NCBI chr 4:5,452,683...5,556,679
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 4:58,067,666...58,070,628 JBrowse link
G Calu calumenin ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr 4:57,949,086...57,976,589
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 4:58,034,088...58,061,882
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 4:58,127,577...58,140,665
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 More... NCBI chr 4:58,142,954...58,220,365
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, autosomal dominant 4 OMIM
ClinVar		 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17486094 PMID:18504129 PMID:19664747 PMID:21378381 PMID:21646632 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:2007407 PMID:2733290 PMID:4684700 PMID:9500556 PMID:10580070 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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:17008331 PMID:17576681 PMID:18414213 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: 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 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:2764718 PMID:9536098 PMID:10766988 PMID:11257469 PMID:12796534 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: 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 PMID:10838249 PMID:11592034 PMID:11741828 PMID:12666124 PMID:12707425 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 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:11102973 PMID:12920062 PMID:15475483 PMID:15998779 More... NCBI chr 2:173,939,751...173,960,423
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 7:107,887,764...107,949,100
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 5:129,634,274...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: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:1236901 PMID:12369018 PMID:14678799 PMID:15522202 PMID:15637732 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: 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 6:106,755,462...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: 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: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: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:9673983 PMID:16199547 PMID:16832103 PMID:18285821 PMID:18414213 More... NCBI chr15:35,388,836...35,435,072
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 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: 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: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:22335739 PMID:22526018 PMID:23396983 More... NCBI chr 3:61,652,432...61,924,912
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 3:15,538,580...15,544,465
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:151,597,270...151,623,776
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 1:17,672,675...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 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 chr20:48,772,397...48,800,677
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:25741868 PMID:28492532 PMID:33861953 NCBI chr 6:131,983,059...132,005,665
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 OMIM 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:3258171 PMID:7318636 PMID:7720071 PMID:7762565 More... RGD:734687 NCBI chr 3:107,407,518...107,457,858
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 chr13:29,493,554...29,715,151
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: Leyden-Moebius muscular dystrophy ClinVar PMID:25500235 PMID:25741868 PMID:26820064 PMID:27854218 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		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
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 4:116,490,877...116,690,709
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 chr18:51,499,670...51,703,976
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 2:173,939,751...173,960,423
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 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		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 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 chr15:34,926,198...35,051,722
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 chr15:35,285,783...35,370,335
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: 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
OMIM:253700
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)		 OMIM
ClinVar
MouseDO
CTD
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
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 chr15:35,092,206...35,158,472
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 chr10:79,883,622...79,900,625
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 8:108,890,926...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
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 chr15:35,388,836...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:17584854 PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 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
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 chr14:34,563,614...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
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 chr10:31,346,480...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
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 chr10:83,381,719...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: 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 5:79,005,139...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
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 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I 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 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 chr18:11,450,392...11,482,476
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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		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 4:159,659,242...159,688,034
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: 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: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: Autosomal recessive limb-girdle muscular dystrophy type 2K 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: 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 3:14,962,930...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: 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 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K 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: 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 3:15,520,717...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: Autosomal recessive limb-girdle muscular dystrophy type 2K 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: 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 1:101,086,490...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
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		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 1:69,299,900...69,303,582
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 5:68,339,803...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: 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:17559086 PMID:17576681 PMID:17634419 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 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:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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: 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:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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 8:109,296,738...109,355,909
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 8:109,146,650...109,161,749
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: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 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 8:109,026,905...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: 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 8:109,256,705...109,261,365
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 8:109,141,594...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: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
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 8:109,264,098...109,264,188 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 8:109,274,629...109,292,802
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 8:109,207,705...109,215,738
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 8:108,991,926...109,025,746
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 8:109,365,056...109,386,512
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 8:108,988,588...108,992,324
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 8:109,190,727...109,201,761
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 8:109,035,402...109,079,382
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 7:107,887,764...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: 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 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:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 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 6:53,120,264...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 Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr18:24,009,731...24,067,267
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 chr18:23,883,613...23,914,326
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 chr18:23,576,232...23,583,153
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 chr18:23,695,496...23,737,363
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 chr18:23,807,218...23,879,722
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 chr18:23,764,367...23,774,816
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: Muscular dystrophy, limb-girdle, type 2X OMIM
ClinVar		 PMID:25741868 PMID:26642364 PMID:28492532 PMID:31119192 PMID:35660068 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 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 chr13:68,196,681...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: Autosomal recessive limb-girdle muscular dystrophy 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: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annot