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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)
For additional species annotation, visit the Alliance of Genome Resources.



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3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar
OMIM
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
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 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 IAGP ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency ClinVar
OMIM
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
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 IAGP ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 More... NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 IAGP ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 More... NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179 PMID:10508519 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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 IAGP ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
ClinVar
OMIM
PMID:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 More... NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CCN2 cellular communication network factor 2 IEP mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar
OMIM
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,107...112,657,592
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051
JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
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 ISO RGD PMID:14506614 RGD:1581765 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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 IAGP ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: Mental retardation and muscular atrophy
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar
OMIM
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 More... NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
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 IEP RGD PMID:20680636 RGD:5148026 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP
EXP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
RGD
PMID:632821 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 More... NCBI chr15:89,209,869...89,223,179
Ensembl chr15:89,209,869...89,221,614
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 IAGP OMIM NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G PAX3 paired box 3 IAGP DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
RGD
PMID:24033266 PMID:25741868 PMID:15313887 RGD:1580944 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PAX7 paired box 7 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866
JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714
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 IAGP OMIM NCBI chr17:81,977,550...82,017,669
Ensembl chr17:81,976,807...82,017,406
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IEP
IAGP
DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865 PMID:8666549 PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
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 IAGP ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar
OMIM
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21 ClinVar NCBI chr 5:139,273,752...139,283,184
Ensembl chr 5:139,274,102...139,284,899
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 IAGP OMIM NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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 IAGP ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
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 IAGP
ISO
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
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:12920062 PMID:15140538 PMID:15475483 PMID:15998779 PMID:17377071 More... RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 More... NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17761684 PMID:18414213 PMID:22995991 More... NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant ClinVar
OMIM
PMID:21391237 PMID:21636032 PMID:23812740 PMID:24033266 PMID:25741868 More... NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar PMID:15358028 PMID:15556047 PMID:15757018 PMID:17125710 PMID:18414213 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH7 myosin heavy chain 7 IAGP DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar
OMIM
RGD
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... RGD:12792959 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E ClinVar
OMIM
PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 PMID:20682716 More... NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO3 transportin 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F ClinVar
OMIM
PMID:9536098 PMID:11222786 PMID:17576681 PMID:23543484 PMID:23667635 More... NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G ClinVar
OMIM
PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
OMIM
ClinVar
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9642272 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar
OMIM
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2
ClinVar
OMIM
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr17:64,449,006...64,496,469
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar
OMIM
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 ClinVar
OMIM
PMID:23352259 PMID:25741868 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G SPEG striated muscle enriched protein kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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 IAGP ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy, atypical, autosomal recessive
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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 IAGP ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:23606453 PMID:24022920 More... NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070
JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 More... NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:17559086 PMID:22323514 PMID:23757202 PMID:24033266 PMID:25741868 More... NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar
RGD
PMID:17923109 RGD:11532762 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 More... NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCB sarcoglycan beta IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 More... NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299
JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 More... NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:16199547 PMID:18285821 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:22335739 PMID:22526018 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:23396983 PMID:23861362 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23
ClinVar
OMIM
PMID:9158149 PMID:21953594 PMID:22166137 PMID:24957499 PMID:25525159 More... NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23
ClinVar PMID:9536098 PMID:17576681 PMID:23830518 PMID:25741868 PMID:28492532 More... NCBI chr 4:183,659,277...183,713,592
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
ClinVar
OMIM
PMID:25741868 PMID:27066570 PMID:28492532 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
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 BVES-AS1 BVES antisense RNA 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 ClinVar PMID:31610034 NCBI chr 6:105,137,687...105,169,945
Ensembl chr 6:105,136,308...105,169,952
JBrowse link
G POPDC3 popeye domain containing 3 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar
PMID:31610034 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014
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 IAGP OMIM NCBI chr14:105,140,981...105,168,776
Ensembl chr14:105,140,982...105,168,824
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
IAGP
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy
ClinVar Annotator: match by term: Calpainopathy
ClinVar
OMIM
RGD
PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... RGD:734687 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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 IAGP ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G DYSF dysferlin IAGP
EXP
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1483054 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G VDR vitamin D receptor IEP protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18285821 PMID:18398442 PMID:18414213 PMID:19031088 PMID:19208398 More... NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
DNA:mutation:cds: c.787G>A (p.Glu263Lys)(human)
ClinVar
OMIM
RGD
PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9536098 More... RGD:13605619 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 IDA protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SGCA sarcoglycan alpha treatment IAGP
IDA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar
OMIM
RGD
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:29671837 More... NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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 IAGP
IDA
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E
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
OMIM
RGD
PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605613, RGD:13605614 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299
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 IAGP
EXP
ClinVar Annotator: match by term: Delta-sarcoglycanopathy
ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, limb girdle 2F
ClinVar
CTD
OMIM
PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G
ClinVar
OMIM
PMID:10655062 PMID:15582318 PMID:16911908 PMID:18414213 PMID:18585512 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
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 IAGP ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Sarcotubular myopathy OMIM
ClinVar
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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 IAGP
IMP
DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:missense mutation: :pP89A (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)
ClinVar
OMIM
RGD
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1598944, RGD:11063285, RGD:11667967, RGD:11667966, RGD:11667965, RGD:11667964, RGD:11667963, RGD:11667961 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar
OMIM
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 More... NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar PMID:1745277 PMID:9536098 PMID:9804419 PMID:10462489 PMID:11717165 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G AIF1L allograft inflammatory factor 1 like IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,096,531...131,123,144
Ensembl chr 9:131,096,476...131,123,152
JBrowse link
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,704,894
JBrowse link
G FAM78A family with sequence similarity 78 member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,258,078...131,281,928
Ensembl chr 9:131,258,076...131,276,510
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,902,440...130,939,247
Ensembl chr 9:130,902,438...130,939,286
JBrowse link
G LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473
JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,586...131,234,663
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,289,694...131,309,261
Ensembl chr 9:131,289,459...131,359,022
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
PMID:9536098 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 More... NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986
JBrowse link
G PRRC2B proline rich coiled-coil 2B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,373,651...131,500,193
Ensembl chr 9:131,373,636...131,500,197
JBrowse link
G QRFP pyroglutamylated RFamide peptide IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,892,707...130,896,812
Ensembl chr 9:130,892,707...130,896,812
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 IAGP DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
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)
ClinVar
OMIM
RGD
PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... RGD:11066746, RGD:11570561, RGD:11570558 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G FKTN fukutin IAGP DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
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 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13
ClinVar
OMIM
PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
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 NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17878207 PMID:17923109 PMID:18414213 More... NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar
OMIM
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232
JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,177,539...49,192,684
Ensembl chr 3:49,177,634...49,191,858
JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar
OMIM
PMID:9536098 PMID:14678799 PMID:15367484 PMID:17576681 PMID:20234391 More... NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,198,428...49,258,106
Ensembl chr 3:49,198,428...49,258,106
JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,171,120...49,176,487
Ensembl chr 3:49,171,598...49,176,486
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G NICN1 nicolin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,206...49,416,475
JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q ClinVar
OMIM
PMID:11851880 PMID:15810881 PMID:21109228 PMID:22854623 PMID:25741868 More... NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,153...143,976,734
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S
ClinVar Annotator: match by term: Autosomal recessive limb girdle muscular dystrophy type 2S
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 More... NCBI chr 4:183,659,277...183,713,592
Ensembl chr 4:183,659,267...183,713,594
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
ClinVar
OMIM
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C7
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
ClinVar
OMIM
PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2w
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25589244 PMID:25741868 PMID:28492532 NCBI chr 2:127,638,421...127,681,786
Ensembl chr 2:127,638,381...127,681,786
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BVES blood vessel epicardial substance IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X ClinVar
OMIM
PMID:25741868 PMID:26642364 PMID:31119192 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157
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 LOC112577517 Sharpr-MPRA regulatory region 13766 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 PMID:28492532 NCBI chr 1:179,882,554...179,882,848 JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar
OMIM
PMID:4856141 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24856141 More... NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077
JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 1:179,839,976...179,877,803
Ensembl chr 1:179,839,967...179,877,803
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z ClinVar
OMIM
PMID:27807076 NCBI chr 3:119,468,955...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
autosomal recessive 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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
OMIM
ClinVar
PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
autosomal recessive 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 RNASEH1 ribonuclease H1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:25741868 PMID:26094573 NCBI chr 2:3,531,813...3,558,367
Ensembl chr 2:3,541,430...3,558,333
JBrowse link
autosomal recessive 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 TK2 thymidine kinase 2 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
autosomal recessive 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 DGUOK deoxyguanosine kinase IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 ClinVar
OMIM
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G DGUOK-AS1 DGUOK antisense RNA 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 ClinVar PMID:25741868 NCBI chr 2:73,957,967...73,981,439
Ensembl chr 2:73,947,322...73,981,441
JBrowse link
autosomal recessive 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 TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
ClinVar
OMIM
PMID:25741868 PMID:29290614 NCBI chr17:18,269,958...18,314,996
Ensembl chr17:18,271,428...18,315,007
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,476,642
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP
EXP
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin IAGP ClinVar Annotator: match by term: Becker muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type
ClinVar Annotator: match by term: Becker muscular dystrophy, atypical
ClinVar Annotator: match by term: Muscular dystrophy, Becker
ClinVar
OMIM
PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 More... NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,755...32,896,777
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7695699 PMID:8218237 PMID:9536098 PMID:11707460 PMID:15689448 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Bethlem myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 More... NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,160...46,155,579
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC105760.1 novel transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,048,599...237,056,167
Ensembl chr 2:237,048,599...237,056,167
JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,537,131...236,582,358
Ensembl chr 2:236,567,787...236,582,354
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility IAGP Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
RGD
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 More... RGD:1600934 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility IAGP Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
RGD
PMID:1788629 PMID:4271325 PMID:4793163 PMID:7695699 PMID:7785673 More... RGD:1600934 NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 More... NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COPS8 COP9 signalosome subunit 8 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,085,889...237,100,474
Ensembl chr 2:237,085,882...237,100,474
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,160...46,155,579
JBrowse link
G LOC110121230 VISTA enhancer hs1951 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,313,177...237,316,630 JBrowse link
G LOC112840913 Sharpr-MPRA regulatory region 9900 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,968,106...236,968,400 JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar
OMIM
RGD
PMID:8841193 PMID:9367679 PMID:9536098 PMID:10914677 PMID:16199547 More... RGD:734618 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
JBrowse link
G ATP2A1-AS1 ATP2A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:17882224 PMID:24707176 PMID:26467025 PMID:28492532 NCBI chr16:28,878,957...28,879,921
Ensembl chr16:28,878,957...28,879,920
JBrowse link
G ATXN2L ataxin 2 like IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr16:28,822,999...28,837,237
Ensembl chr16:28,822,999...28,837,237
JBrowse link
G LOC112340393 Sharpr-MPRA regulatory region 4004 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr16:28,863,268...28,863,562 JBrowse link
G MIR4721 microRNA 4721 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr16:28,843,919...28,844,007
Ensembl chr16:28,843,919...28,844,007
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... NCBI chr16:28,904,421...28,925,238
Ensembl chr16:28,904,421...28,936,526
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Carney triad
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 5:218,309...264,816
Ensembl chr 5:218,241...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
central core disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ATP13A4 ATPase 13A4 IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 3:193,398,967...193,593,114
Ensembl chr 3:193,398,967...193,593,111
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:1,755,778...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G RYR1 ryanodine receptor 1 IAGP
EXP
ClinVar Annotator: match by term: Myopathy, Central Core
ClinVar Annotator: match by term: Shy-Magee syndrome
ClinVar Annotator: match by term: Central core disease of muscle
ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Congenital myopathy with cores
ClinVar Annotator: match by term: Central core disease, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12434 PMID:1256913 PMID:1743490 PMID:4149045 PMID:7547049 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP
ISS
ClinVar Annotator: match by term: Myopathy, centronuclear
ClinVar Annotator: match by term: Centronuclear myopathy
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 More... NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G KLHL31 kelch like family member 31 ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 6:53,647,916...53,665,854
Ensembl chr 6:53,647,916...53,665,756
JBrowse link
G MTM1 myotubularin 1 IAGP
ISS
ClinVar Annotator: match by term: Myotubular myopathy
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
PMID:18414213 NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,621...150,673,143
JBrowse link
G PLN phospholamban ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
centronuclear myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 1
ClinVar
OMIM
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 More... NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,621...150,673,143
JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356 PMID:25741868 NCBI chr 3:9,649,465...9,702,393
Ensembl chr 3:9,649,433...9,702,393
JBrowse link
G MYF6 myogenic factor 6 IAGP ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880
JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:80,424,261...80,680,273
Ensembl chr12:80,402,178...80,680,273
JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17676042 PMID:18414213 PMID:20142620 More... NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G LOC112806045 Sharpr-MPRA regulatory region 572 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr 2:127,064,773...127,065,067 JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC78 coiled-coil domain containing 78 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 4 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr16:722,578...726,880
Ensembl chr16:722,582...726,954
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIC4-AS1 ASIC4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 2:219,481,732...219,517,086 JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 More... NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar
OMIM
PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION ClinVar
OMIM
PMID:16760198 PMID:27816943 NCBI chr 2:173,075,435...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:150,766,336...150,898,717
Ensembl chr  X:150,766,336...150,898,816
JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 More... NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G GPR50 G protein-coupled receptor 50 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:151,176,584...151,182,855
Ensembl chr  X:151,176,584...151,181,465
JBrowse link
G GPR50-AS1 GPR50 antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:151,175,198...151,177,836
Ensembl chr  X:151,175,192...151,177,836
JBrowse link
G HMGB3 high mobility group box 3 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:150,980,507...150,990,773
Ensembl chr  X:150,980,509...150,990,771
JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar
OMIM
PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 More... NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,621...150,673,143
JBrowse link
G MTMR1 myotubularin related protein 1 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:150,692,962...150,765,108
Ensembl chr  X:150,692,971...150,765,108
JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5 ClinVar
OMIM
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr17:64,449,006...64,496,469
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia, proximal myopathy, and sudden death ClinVar PMID:8265770 PMID:8786060 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar PMID:29398297 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP
EXP
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD
RGD
PMID:17923349 PMID:12565911 PMID:17420318 PMID:16401742 PMID:12975295 More... RGD:8694170, RGD:8694204, RGD:8694183, RGD:8694163, RGD:737726 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar PMID:21646632 PMID:21951382 PMID:24741716 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar
RGD
PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility IAGP DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar
RGD
PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 More... RGD:1600544 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar PMID:25741868 NCBI chr12:57,797,376...57,818,734
Ensembl chr12:57,797,376...57,818,704
JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS ClinVar PMID:22167769 PMID:25326637 PMID:28492532 PMID:30661052 NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar
OMIM
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar
OMIM
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 More... NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 More... NCBI chr  X:130,110,633...130,184,873
Ensembl chr  X:130,171,962...130,184,870
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPHOSPH9 M-phase phosphoprotein 9 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:123,152,324...123,244,014
Ensembl chr12:123,152,320...123,244,014
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar
OMIM
PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 More... NCBI chr12:123,233,436...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
Compton-North congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN1 contactin 1 IAGP ClinVar Annotator: match by term: Myopathy, congenital, compton-north ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 More... NCBI chr12:40,692,429...41,072,415
Ensembl chr12:40,692,439...41,072,415
JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 9
ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar
OMIM
RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O ClinVar
OMIM
PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 More... NCBI chr 1:155,139,891...155,140,573
Ensembl chr 1:155,139,891...155,140,595
JBrowse link
congenital fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Congenital fiber-type disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar
OMIM
PMID:10528865 PMID:12921789 PMID:15468086 PMID:17387733 PMID:18414213 More... NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr17:63,917,193...63,958,852 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:15358028 PMID:15757018 PMID:17125710 PMID:19150014 PMID:21127202 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH7 myosin heavy chain 7 IEA
IAGP
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
MouseDO
ClinVar
PMID:1430197 PMID:1472461 PMID:1552912 PMID:1638703 PMID:1944483 More... NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:32453731 PMID:33731536 NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G RYR1 ryanodine receptor 1 IEA
IAGP
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion
MouseDO
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:4149045 PMID:7299413 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,